Genetic variation and atherosclerosis

Current Genomics

Volumn 9, Issue 1, 2008, Pages 29-42

  Biros, Erik ^a   Karan, Mirko ^a   Golledge, Jonathan ^a  

^a JAMES COOK UNIVERSITY   (Australia)

Author keywords

Atherosclerosis; Genetic polymorphism; Risk factors

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A1; ABC TRANSPORTER B10; ABC TRANSPORTER G5; ABC TRANSPORTER G8; ACETYL COENZYME A ACETYLTRANSFERASE; ACETYL COENZYME A ACETYLTRANSFERASE 1; ACYL COENZYME A OXIDASE; APOLIPOPROTEIN; APOLIPOPROTEIN B; APOLIPOPROTEIN E; APOLIPOPROTEIN F; ARACHIDONATE 5 LIPOXYGENASE ACTIVATING PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; CHOLESTEROL 7ALPHA MONOOXYGENASE; CHOLESTEROL ACYLTRANSFERASE; CYTOCHROME P450; CYTOCHROME P450 11A; CYTOCHROME P450 27B1; LEUKOTRIENE A4 HYDROLASE; LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; MATRIX METALLOPROTEINASE; OSTEOPROTEGERIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; SCAVENGER RECEPTOR; SCAVENGER RECEPTOR BI; TOLL LIKE RECEPTOR; TRANSFORMING GROWTH FACTOR BETA1; UNCLASSIFIED DRUG;

ATHEROSCLEROSIS; BLOOD VESSEL CALCIFICATION; CARDIOVASCULAR RISK; FAMILY HISTORY; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; HUMAN; INCIDENCE; INFLAMMATION; INHERITANCE; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN METABOLISM; MODULATION; MUTATIONAL ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 41549108450     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/138920208783884856     Document Type: Review

References (230)

1. Stary, H. C. Composition and classification of human atherosclerotic lesions. Virchows Arch A Pathol. Anat. Histopathol. 1992, 421: 277-290.
2. Ross, R. Atherosclerosis - an inflammatory disease. N. Engl. J. Med. 1999, 340: 115-126.
3. Libby, P. Inflammation in atherosclerosis. Nature 2002, 420: 868-874.
4. Marenberg, M. E., Risch, N., Berkman, L. F., Floderus, B., de Faire, U. Genetic susceptibility to death from coronary heart disease in a study of twins. N. Engl. J. Med. 1994, 330: 1041-1046.
5. Zdravkovic, S., Wienke, A., Pedersen, N. L., Marenberg, M. E., Yashin, A. I., De Faire, U. Heritability of death from coronary heart disease: a 36-year follow-up of 20 966 Swedish twins. J. Intern. Med. 2002, 252: 247-254.
6. Yarnell, J., Yu, S., Patterson, C., Cambien, F., Arveiler, D., Amouyel, P., Ferrieres, J., Luc, G., Evans, A., Ducimetiere, P. Family history, longevity, and risk of coronary heart disease: the PRIME Study. Int. J. Epidemiol. 2003, 32: 71-77.
7. Hattersley, A. T., McCarthy, M. I. What makes a good genetic association study? Lancet 2005, 366: 1315-1323.
8. Dichgans, M., Markus, H. S. Genetic association studies in stroke: methodological issues and proposed standard criteria. Stroke 2005, 36: 2027-2031.
9. Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J., Lander, E. S. High-resolution haplotype structure in the human genome. Nat. Genet. 2001, 29: 229-232.
10. Patil, N., Berno, A. J., Hinds, D. A., Barrett, W. A., Doshi, J. M., Hacker, C. R., Kautzer, C. R., Lee, D. H., Maijoribanks, C., McDonough, D. P., Nguyen, B. T., Norris, M. C., Sheehan, J. B., Shen, N., Stern, D., Stokowski, R. P., Thomas, D. J., Trulson, M. O., Vyas, K. R., Frazer, K. A., Fodor, S. P., Cox, D. R. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 2001, 294: 1719-1723.
11. Dawson, E., Abecasis, G. R., Bumpstead, S., Chen, Y., Hunt, S., Beare, D. M., Pabial, J., Dibling, T., Tinsley, E., Kirby, S., Carter, D., Papaspyridonos, M., Livingstone, S., Ganske, R., Lohmussaar, E., Zernant, J., Tonisson, N., Remm, M., Magi, R., Puurand, T., Vilo, J., Kurg, A., Rice, K., Deloukas, P., Mott, R., Metspalu, A., Bentley, D. R., Cardon, L. R., Dunham, I. A first-generation link-age disequilibrium map of human chromosome 22. Nature 2002, 418: 544-548.
12. Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., Liu-Cordero, S. N., Rotimi, C., Adeyemo, A., Cooper, R., Ward, R., Lander, E. S., Daly, M. J., Altshuler, D. The structure of haplotype blocks in the human genome. Science 2002, 296: 2225-2229.
13. Phillips, M. S., Lawrence, R., Sachidanandam, R., Morris, A. P., Balding, D. J., Donaldson, M. A., Studebaker, J. F., Ankener, W. M., Alfisi, S. V., Kuo, F. S., Camisa, A. L., Pazorov, V., Scott, K. E., Carey, B. J., Faith, J., Katari, G., Bhatti, H. A., Cyr, J. M., Derohannessian, V., Elosua, C., Forman, A. M., Grecco, N. M., Hock, C. R., Kuebler, J. M., Lathrop, J. A., Mockler, M. A., Nachtman, E. P., Restine, S. L., Varde, S. A., Hozza, M. J., Gelfand, C. A., Broxholme, J., Abecasis, G. R., Boyce-Jacino, M. T., Cardon, L. R. Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat. Genet. 2003, 33: 382-387.
14. The International HapMapConsorlium, A second generation human haplotype map of over 3.1 million SNPs, Nature 2007, 851-861.
15. Thomas, P. D., Campbell, M. J., Kejariwal, A., Mi, H., Karlak, B., Daverman, R., Diemer, K., Muruganujan, A., Narechania, A. PANTHER: a library of protein families and subfamilies indexed by function. Genome Res. 2003, 13: 2129-2141.
16. Thomas, P. D., Kejariwal, A. Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc. Natl. Acad. Sci. U. S. A. 2004, 101: 15398-15403.
17. Thomas, P. D., Kejariwal, A., Guo, N., Mi, H., Campbell, M. J., Muruganujan, A., Lazareva-Ulitsky, B. Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools. Nucleic Acids Res. 2006, 34: W645-650.
18. Cardon, L. R., Palmer, L. J. Population stratification and spurious allelic association. Lancet 2003, 361: 598-604.
19. Goldstein, J. L. and. Brown, M. S. Familial hypercholesterolemia: The Metabolic Basis of Inherited Disease 6th ed., McGraw Hill: New York, 1989.
20. Breslow, J. L., Deeb, S., Lalouel, J. M., Le Boeuf, R., Schaefer, E. J., Tyroler, H. A., Wilson, P., Young, S. Genetic susceptibility to atherosclerosis. Circulation 1989, 80: 724-728.
21. Lusis, A. J., Fogelman, A. M., Fonarow, G. C. Genetic basis of atherosclerosis: part I: new genes and pathways. Circulation 2004, 110: 1868-1873.
22. Goldstein, J. L., Brown, M. S. Expression of the familial hypercholesterolemia gene in heterozygotes: model for a dominant disorder in man. Trans. Assoc. Am. Physicians 1974, 87: 120-131.
23. Lindgren, V., Luskey, K. L., Russell, D. W., Francke, U. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc. Natl. Acad. Sci. U.S.A. 1985, 82: 8567-8571.
24. Francke, U., Brown, M. S., Goldstein, J. L. Assignment of the human gene for the low density lipoprotern receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc. Natl. Acad. Sci. U. S. A. 1984, 81: 2826-2830.
25. Yamamoto, T., Davis, C. G., Brown, M. S., Schneider, W. J., Casey, M. L., Goldstein, J. L., Russell, D. W. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984, 39: 27-38.
26. Hobbs, H. H., Brown, M. S., Goldstein, J. L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1992, 1: 445-466.
27. Varret, M., Rabes, J. P., Collod-Beroud, G., Junien, C., Boileau, C., Beroud, C. Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res. 1997, 25: 172-180.
28. Soutar, A. K. Update on low density lipoprotein receptor mutations. Curr. Opin. Lipidol. 1998, 9: 141-147.
29. Heath, K. E., Day, I. N., Humphries, S. E. Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene. J. Med. Genet. 2000, 37: 272-280.
30. Villeger, L., Abifadel, M., Allard, D., Rabes, J. P., Thiart, R., Kotze, M. J., Beroud, C., Junien, C., Boileau, C., Varret, M. The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum. Mutat. 2002, 20: 81-87.
31. Humphries, S., King-Underwood, L., Gudnason, V., Seed, M., Delattre, S., Clavey, V., Fruchart, J. C. Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia. J. Med. Genet. 1993, 30: 273-279.
32. Chaves, F. J., Ping, O., Garcia-Sogo, M., Real, J., Gil, J. V., Ascaso, J., Carmena, R., Armengod, M. E. Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial bypercholesterolemia in Spain. Clin. Genet. 1996, 50: 28-35.
33. Ping, O., Chaves, F. J., Garcia-Sogo, M., Real, J., Gil, J. V., Armengod, M. E. A three-allelic polymorphic system in exon 12 of the LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population. Clin. Genet. 1996, 50: 50-53.
34. Salazar, L. A., Cavalli, S. A., Hirata, M. H., Diament, J., Forti, N., Giannini, S. D., Nakandakare, E. R., Bertolami, M. C., Hirata, R. D. Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia. Braz. J. Med. Biol. Res. 2000, 33: 1301-1304.
35. Mavroidis, N., Traeger-Synodinos, J., Kanavakis, E., Drogari, E., Matsaniotis, N., Humphries, S. E., Day, I. N., Kattamis, C. A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation. Hum. Mutat. 1997, 9: 274-276.
36. Traeger-Synodinos, J., Mavroidis, N., Kanavakis, E., Drogari, E., Humphries, S. E., Day, I. N., Kattamis, C., Matsamotis, N. Analysis of low density lipoprotein receptor gene mutations and micro-satellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands. Hum. Genet. 1998, 102: 343-347.
37. Kane, J. P., Hardman, D. A., Paulus, H. E. Heterogeneity of apolipoprotein B: isolation of a new species from human chylomicrons. Proc. Natl. Acad. Sci. U. S. A. 1980, 77: 2465-2469.
38. Deeb, S. S., Disteche, C., Motulsky, A. G., Lebo, R. V., Kan, Y. W. Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine. Proc. Natl. Acad. Sci. U. S. A. 1986, 83: 419-422.
39. Yang, C. Y., Gu, Z. W., Weng, S. A., Kim, T. W., Chen, S. H., Pownall, H. J., Sharp, P. M., Liu, S. W., Li, W. H., Gotto, A. M. Structure of apolipoprotein B-100 of human low density lipoproteins. Arteriosclerosis 1989, 9: 96-108.
40. Young, S. G. Recent progress in understanding apolipoprotein B. Circulation 1990, 82: 1574-1594.
41. Innerarity, T. L., Weisgraber, K. H., Arnold, K. S., Mahley, R. W., Krauss, R. M., Vega, G. L., Grundy, S. M. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc. Natl. Acad. Sci. U. S. A. 1987, 84: 6919-6923.
42. Schonfeld, G. Familial hypobetalipoproteinemia: a review. J. Lipid Res. 2003, 44: 878-883.
43. Defesche, J. C., Pricker, K. L., Hayden, M. R., van der Ende, B. E., Kastelein, J. J. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. Arch Intern. Med. 1993, 153: 2349-2356.
44. Soria, L. F., Ludwig, E. H., Clarke, H. R., Vega, G. L., Grundy, S. M., McCarthy, B. J. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc. Natl. Acad. Sci. U. S. A. 1989, 86: 587-591.
45. Innerarity, T. L., Mahley, R. W., Weisgraber, K. H., Bersot, T. P., Krauss, R. M., Vega, G. L., Grundy, S. M., Friedl, W., Davignon, J., McCarthy, B. J. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J. Lipid. Res. 1990, 31: 1337-1349.
46. Horvath, A., Ganev, V. The mutation APOB-100 R3500Q in Eastern Europe. Atherosclerosis 2001, 156: 241-242.
47. Schuster, H., Rauh, G., Kormann, B., Hepp, T., Humphries, S., Keller, C., Wolfram, G., Zollner, N. Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich. Arteriosclerosis 1990, 10: 577-581.
48. Gasparovic, J., Basistova, Z., Fabryova, L., Wsolova, L., Vohnout, B., Raslova, K. Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity? Atherosclerosis 2007, 194: e95-107.
49. Pullinger, C. R., Gaffney, D., Gutierrez, M. M., Malloy, M. J., Schumaker, V. N., Packard, C. J., Kane, J. P. The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds. J. Lipid Res. 1999, 40: 318-327.
50. Boren, J., Ekstrom, U., Agren, B., Nilsson-Ehle, P., Innerarity, T. L. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J. Biol. Chem. 2001, 276: 9214-9218.
51. Boerwinkle, E., Chan, L. A three codon insertion/deletion polymorphism in the signal peptide region ofthe human apolipoprotein B (APOB) gene directly typed by the polymerase chain reaction. Nucleic Acids Res. 1989, 17: 4003.
52. Boerwinkle, E., Lee, S. S., Butler, R., Schumaker, V. N., Chan, L. Rapid typing of apolipoprotein B DNA polymorphisms by DNA amplification. Association between Ag epitopes of human apolipoprotein B-100, a signal peptide insertion/deletion polymorphism, and a 3'flanking DNA variable number of tandem repeats polymorphism of the apolipoprotein B gene. Atherosclerosis 1990, 81: 225-232.
53. Visvikis, S., Chan, L., Siest, G., Drouin, P., Boerwinkle, E. An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene. Hum. Genet. 1990, 84: 373-375.
54. Turner, P. R., Talmud, P. J., Visvikis, S., Ehnholm, C., Tiret, L. DNA polymorphisms of the apoprotein B gene are associated with altered plasma lipoprotein concentrations but not with perceived risk of cardiovascular disease: European Atherosclerosis Research Study. Atherosclerosis 1995, 116: 221-234.
55. Renges, H. H., Wile, D. B., McKeigue, P. M., Marmot, M. G., Humphries, S. E. Apolipoprotein B gene polymorphisms are associated with lipid levels in men of South Asian descent. Atherosclerosis 1991, 91: 267-275.
56. Hansen, P. S., Gerdes, L. U., Klausen, I. C., Gregersen, N., Faergeman, O. Polymorphisms in the apolipoprotein B-100 gene contributes to normal variation in plasma lipids in 464 Danish men bom in 1948. Hum. Genet. 1993, 91: 45-50.
57. Kammerer, C. M., VandeBerg, J. L., Haffner, S. M., Hixson, J. E. Apolipoprotein B (apo B) signal peptide length polymorphisms are associated with apo B, low density lipoprotein cholesterol, and glucose levels in Mexican Americans. Atherosclerosis 1996, 120: 37-45.
58. Choong, M. L., Koay, E. S., Khaw, M. C., Ass, T. C. Apolipoprotein B 5′-Ins/Del and 3′-VNTR polymorphisms in Chinese, malay and Indian singaporeans. Hum. Hered. 1999, 49: 31-40.
59. Boekholdt, S. M., Peters, R. J., Fountoulaki, K., Kastelein, J. J., Sijbrands, E. J. Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis. Hum. Genet. 2003, 113: 417-425.
60. Jemaa, R., Mebazaa, A., Fumeron, F. Apolipoprotein B signal peptide polymorphism and plasma LDL-cholesterol response to low-calorie diet. Int. J. Obes. Relat. Metab. Disord. 2004, 28: 902-905.
61. Cantor, R. M., de Bruin, T., Kono, N., Napier, S., van Nas, A., Allayee, H., Lusis, A. J. Quantitative trait loci for apolipoprotein B, cholesterol, and triglycerides in familial combined hyperlipidemia pedigrees. Arterioscler. Thromb. Vasc. Biol. 2004, 24: 1935-1941.
62. Collaku, A., Rankinen, T., Rice, T., Leon, A. S., Rao, D. C., Skinner, J. S., Wilmore, J. H., Bouchard, C. A genome-wide linkage scan for dietary energy and nutrient intakes: the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family Study. Am. J. Clin. Nutr. 2004, 79: 881-886.
63. Hsueh, W. C., St Jean, P. L., Mitchell, B. D., Pollin, T. I., Knowler, W. C., Ehm, M. G., Bell, C. J., Sakul, H., Wagner, M. J., Burns, D. K., Shuldiner, A. R. Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24. Diabetes 2003, 52: 550-557.
64. Baima, J., Nicolaou, M., Schwartz, F., DeStefano, A. L., Manolis, A., Gavras, I., Laffer, C., Elijovich, F., Farrer, L., Baldwin, C. T., Gavras, H. Evidence for linkage between essential hypertension and a putative locus on human chromosome 17. Hypertension 1999, 34: 4-7.
65. Levy, D., DeStefano, A. L., Larson, M. G., O'Donnell, C. J., Lifton, R. P., Gavras, H., Cupples, L. A., Myers, R. H. Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study. Hypertension 2000, 36: 477-483.
66. Priestley, L., Knott, T., Wallis, S., Powell, L., Pease, R., Simon, A., Scott, J. RFLP for the human apolipoprotein B gene: I,BamHI. Nucleic Acids Res. 1985, 13: 6789.
67. Wei, C. F., Chen, S. H., Yang, C. Y., Marcel, Y. L., Milne, R. W., Li, W. H., Sparrow, J. T., Gotto, A. M., Jr., Chan, L. Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100. Proc. Natl. Acad. Sci. U. S. A. 1985, 82: 7265-7269.
68. Pan, J. P., Chiang, A. N., Tat, J. J., Wang, S. P., Chang, M. S. Restriction fragment length polymorphisms of apolipoprotein B gene in Chinese population with coronary heart disease. Clin. Chem. 1995, 41: 424-429.
69. Ludwig, E. H., Hopkins, P. N., Allen, A., Wu, L. L., Williams, R. R., Anderson, J. L., Ward, R. H., Lalouel, J. M., Innerarity, T. L. Association of genetic variations in apolipoprotein B with hypercholesterolemia, coronary artery disease, and receptor binding of low density lipoproteins. J. Lipid Res. 1997, 38: 1361-1373.
70. Corbo, R. M., Scacchi, R., Mureddu, L., Mulas, G., Castrechini, S., Rivasi, A. P. Apolipoprotein B, apolipoprotein E, and angiotensin-converting enzyme polymorphisms in 2 Italian populations at different risk for coronary artery disease and comparison of allele frequencies among European populations. Hum. Biol. 1999, 71: 933-945.
71. Guzman, E. C., Hirata, M. H., Quintao, E. C., Hirata, R. D. Association of the apolipoprotein B gene polymorphisms with cholesterol levels and response to fluvastatin in Brazilian individuals with high risk for coronary heart disease. Clin. Chem. Lab. Med. 2000, 38: 731-736.
72. Yan, S. K., Song, Y. H., Zhu, W. L., Yan, X. W., Xue, H., Du, H., Chen, B. S. Apolipoprotein B gene 3'VNTR polymorphism: association with plasma lipids and coronary heart disease in Han Chinese. Clin. Chem. Lab. Med. 2006, 44: 1199-1205.
73. Mahley, R. W. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988, 240: 622-630.
74. Beisiegel, U., Weber, W., Ihrke, G., Herz, J., Stanley, K. K. The LDL-receptor-related protein, LRP, is an apolipoprotein E-binding protein. Nature 1989, 341: 162-164.
75. Huang, Y., von Eckardstein, A., Wu, S., Maeda, N., Assmann, G. A plasma lipoprotein containing only apolipoprotein E and with gamma mobility on electrophoresis releases cholesterol from cells. Proc. Natl. Acad. Sci. U. S. A. 1994, 91: 1834-1838.
76. Kypreos, K. E., Zannis, V. I. Pathway of biogenesis of apolipoprotein E-containing HDL in vivo with the participation of ABCA1 and LCAT. Biochem. J. 2007, 403: 359-367.
77. Ji, Z. S., Brecht, W. J., Miranda, R. D., Hussain, M. M., Innerarity, T. L., Mahley, R. W. Role of heparan sulfate proteoglycans in the binding and uptake of apolipoprotein E-enriched remnant lipoproteins by cultured cells. J. Biol. Chem. 1993, 268: 10160-10167.
78. Ji, Z. S., Fazio, S., Lee, Y. L., Mahley, R. W. Secretion-capture role for apolipoprotein E in remnant lipoprotein metabolism involving cell surface heparan sulfate proteoglycans. J. Biol. Chem. 1994, 269: 2764-2772.
79. Havel, R. J. Receptor and non-receptor mediated uptake of chylomicron remnants by the liver. Atherosclerosis 1998, 141 Suppl 1: S1-7.
80. Olaisen, B., Teisberg, P., Gedde-Dahl, T., Jr. The locus for apolipoprotein E (apoE) is linked to the complement component C3 (C3) locus on chromosome 19 in man. Hum. Genet. 1982, 62: 233-236.
81. Das, H. K., McPherson, J., Bruns, G. A., Karathanasis, S. K., Breslow, J. L. Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. J. Biol. Chem. 1985, 260: 6240-6247.
82. Lauer, S. J., Walker, D., Elshourbagy, N. A., Reardon, C. A., Levy-Wilson, B., Taylor, J. M. Two copies of the human apolipoprotein C-I gene are linked closely to the apolipoprotein E gene. J. Biol. Chem. 1988, 263: 7277-7286.
83. Paik, Y. K., Chang, D. J., Reardon, C. A., Davies, G. E., Mahley, R. W., Taylor, J. M. Nucleotide sequence and structure of the human apolipoprotein E gene. Proc. Natl. Acad. Sci. U. S. A. 1985, 82: 3445-3449.
84. Utermann, G., Langenbeck, U., Beisiegel, U., Weber, W. Genetics of the apolipoprotein E system in man. Am. J. Hum. Genet. 1980, 32: 339-347.
85. Zannis, V. I., Breslow, J. L. Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification. Biochemistry 1981, 20: 1033-1041.
86. Utermann, G., Steinmetz, A., Weber, W. Genetic control of human apolipoprotein E polymorphism: comparison of one- and two-dimensional techniques of isoprotein analysis. Hum. Genet. 1982, 60: 344-351.
87. Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W. Human apolipoprotein E. The complete amino acid sequence. J. Biol. Chem. 1982, 257: 4171-4178.
88. Weisgraber, K. H., Innerarity, T. L., Mahley, R. W. Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site. J. Biol. Chem. 1982, 257: 2518-2521.
89. Martins, R. N., Clarnette, R., Fisher, C., Broe, G. A., Brooks, W. S., Montgomery, P., Gandy, S. E. ApoE genotypes in Australia: roles in early and late onset Alzheimer's disease and Down's syndrome. Neuroreport 1995, 6: 1513-1516.
90. Gregg, R. E., Brewer, H. B., Jr. The role of apolipoprotein E and lipoprotein receptors in modulating the in vivo metabolism of apolipoprotein B-containing lipoproteins in humans. Clin. Chem. 1988, 34: B28-32.
91. Banares, V. G., Peterson, G., Aguilar, D., Gulayin, R., Sisu, E., Wyszynski, D. F., Pivetta, O. H., Tavella, M. J. Association between the APOE*4 allele and atherosclerosis is age dependent among Argentine males. Hum. Biol. 2005, 77: 247-256.
92. Taylor, J. M., Lauer, S., Elshourbagy, N., Reardon, C., Taxman, E., Walker, D., Chang, D., Paik, Y. K. Structure and evolution of human apolipoprotein genes: identification of regulatory elements of the human apolipoprotein E gene. Ciba Found Symp. 1987, 130: 70-86.
93. Artiga, M. J., Bullido, M. J., Sastre, I., Recuero, M., Garcia, M. A., Aldudo, J., Vazquez, J., Valdivieso, F. Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene. FEBS Lett. 1998, 421: 105-108.
94. Nickerson, D. A., Taylor, S. L., Fullerton, S. M., Weiss, K. M., Clark, A. G., Stengard, J. H., Salomaa, V., Boerwinkle, E., Sing, C. F. Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. Genome Res. 2000, 10: 1532-1545.
95. Roks, G., Cruts, M., Houwing-Duistermaat, J. J., Dermaut, B., Serneels, S., Havekes, L. M., Hofman, A., Breteler, M. M., Van Broeckhoven, C., van Duijn, C. M. Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study. Am. J. Med. Genet. 2002, 114: 570-573.
96. Viiri, L. E., Raitakari, O. T., Huhtala, H., Kahonen, M., Rontu, R., Juonala, M., Hutri-Kahonen, N., Marniemi, J., Viikari, J. S., Karhunen, P. J., Lehtimaki, T. Relations of APOE promoter polymorphisms to LDL cholesterol and markers of subclinical atherosclerosis in young adults. J. Lipid Res. 2006, 47: 1298-1306.
97. Lawn, R. M., Wade, D. P., Garvin, M. R., Wang, X., Schwartz, K., Porter, J. G., Seilhamer, J. J., Vaughan, A. M., Oram, J. F. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J. Clin. Invest. 1999, 104: R25-31.
98. Oram, J. F. HDL apolipoproteins and ABCA1: partners in the removal of excess cellular cholesterol. Arterioscler. Thromb. Vasc. Biol. 2003, 23: 720-727.
99. Wang, N., Tall, A. R. Regulation and mechanisms of ATP-binding cassette transporter Al-mediated cellular cholesterol efflux. Arterioscler. Thromb. Vasc. Biol. 2003, 23: 1178-1184.
100. Bodzioch, M., Orso, E., Klucken, J., Langmann, T., Bottcher, A., Diederich, W., Drobnik, W., Barlage, S., Buchler, C., Porsch-Ozcurumez, M., Kaminski, W. E., Hahmann, H. W., Oette, K., Rothe, G., Aslanidis, C., Lackner, K. J., Schmitz, G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat. Genet. 1999, 22: 347-351.
101. Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L. H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O., Loubser, O., Ouelette, B. F., Fichter, K., Ashbourne-Excoffon, K. J., Sensen, C. W., Scherer, S., Mott, S., Denis, M., Martindale, D., Frohlich, J., Morgan, K., Koop, B., Pimstone, S., Kastelein, J. J., Genest, J., Jr., Hayden, M. R. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat. Genet. 1999, 22: 336-345.
102. Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J. C., Deleuze, J. F., Brewer, H. B., Duverger, N., Denefle, P., Assmann, G. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat. Genet. 1999, 22: 352-355.
103. Remaley, A. T., Rust, S., Rosier, M., Knapper, C., Naudin, L., Broccardo, C., Peterson, K. M., Koch, C., Amould, I., Prades, C., Duverger, N., Funke, H., Assman, G., Dinger, M., Dean, M., Chimini, G., Santamarina-Fojo, S., Fredrickson, D. S., Denefle, P., Brewer, H. B., Jr. Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc. Natl. Acad. Sci. U. S. A. 1999, 96: 12685-12690.
104. Luciani, M. F., Denizot, F., Savary, S., Mattei, M. G., Chimini, G. Cloning of two novel ABC transporters mapping on human chromosome 9. Genomics 1994, 21: 150-159.
105. Wang, J., Burnett, J. R., Near, S., Young, K., Zinman, B., Hanley, A. J., Connelly, P. W., Harris, S. B., Hegele, R. A. Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler. Thromb. Vasc. Biol. 2000, 20: 1983-1989.
106. Clee, S. M., Zwinderman, A. H., Engert, J. C., Zwarts, K. Y., Molhuizen, H. O., Roomp, K., Jukema, J. W., van Wijland, M., van Dam, M., Hudson, T. J., Brooks-Wilson, A., Genest, J., Jr., Kastelein, J. J., Hayden, M. R. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation 2001, 103: 1198-1205.
107. Lutucuta, S., Ballantyne, C. M., Elghannam, H., Gotto, A. M., Jr., Marian, A. J. Novel polymorphisms in promoter region of atp binding cassette transporter gene and plasma lipids, severity, progression, and regression of coronary atherosclerosis and response to therapy. Circ. Res. 2001, 88: 969-973.
108. Zwarts, K. Y., Clee, S. M., Zwinderman, A. H., Engert, J. C., Singaraja, R., Loubser, O., James, E., Roomp, K., Hudson, T. J., Jukema, J. W., Kastelein, J. J., Hayden, M. R. ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. Clin. Genet. 2002, 61: 115-125.
109. Hodoglugil, U., Williamson, D. W., Huang, Y., Mahley, R. W. Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks. Atherosclerosis 2005, 183: 199-212.
110. Saleheen, D., Khanum, S., Haider, S. R., Nazir, A., Ahmad, U., Khalid, H., Hussain, I., Shuja, F., Shahid, K., Habib, A., Frossard, P. M. A novel haplotype in ABCA1 gene effects plasma HDL-C concentration. Int. J. Cardiol. 2007, 115: 7-13.
111. Knoblauch, H., Bauerfeind, A., Toliat, M. R., Becker, C., Luganskaja, T., Gunther, U. P., Rohde, K., Schuster, H., Junghans, C., Luft, F. C., Numberg, P., Reich, J. G. Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum. Mol. Genet. 2004, 13: 993-1004.
112. Tregouet, D. A., Ricard, S., Nicaud, V., Amould, I., Soubigou, S., Rosier, M., Duverger, N., Poirier, O., Mace, S., Kee, F., Morrison, C., Denefle, P., Tiret, L., Evans, A., Deleuze, J. F., Cambien, F. Indepth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Arterioscler. Thromb. Vasc. Biol. 2004, 24: 775-781.
113. Cohen, J. C., Cali, J. J., Jelinek, D. F., Mehrabian, M., Sparkes, R. S., Lusis, A. J., Russell, D. W., Hobbs, H. H. Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12. Genomics 1992, 14: 153-161.
114. Chiang, J. Y. Regulation of bile acid synthesis: pathways, nuclear receptors, and mechanisms. J. Hepatol. 2004, 40: 539-551.
115. Wang, J., Freeman, D. J., Grundy, S. M., Levine, D. M., Guerra, R., Cohen, J. C. Linkage between cholesterol 7alpha-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations. J. Clin. Invest. 1998, 101: 1283-1291.
116. Couture, P., Otvos, J. D., Cupples, L. A., Wilson, P. W., Schaefer, E. J., Ordovas, J. M. Association of the A-204C polymorphism in the cholesterol 7alpha-hydroxylase gene with variations in plasma low density lipoprotein cholesterol levels in the Framingham Offspring Study. J. Lipid Res. 1999, 40: 1883-1889.
117. Holman, M. K., Weggemans, R. M., Zock, P. L., Schouten, E. G., Katan, M. B., Princen, H. M. CYP7A1 A-278C polymorphism affects the response of plasma lipids after dietary cholesterol or cafestol interventions in humans. J. Nutr. 2004, 134: 2200-2204.
118. Lin, J. P., Myers, R. H., Almasy, L., Coon, H. H., Arnett, D. K., Hong, Y., Hunt, S. C. Linkage of the cholesterol 7alpha-hydroxylase gene and low-density lipoprotein cholesterol conditional on apolipoprotein E association: the National Heart, Lung, and Blood Institute Family Heart Study. Chin. Med. J. (Engl). 2005, 118: 362-369.
119. Han, Z., Heath, S. C., Shmulewitz, D., Li, W., Auerbach, S. B., Blundell, M. L., Lehner, T., Ott, J., Stoffel, M., Friedman, J. M., Breslow, J. L. Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia. Am. J. Med. Genet. 2002, 110: 234-242.
120. Klos, K. L., Sing, C. F., Boerwinkle, E., Hamon, S. C., Rea, T. J., Clark, A., Fornage, M., Hixson, J. E. Consistent effects of genes involved in reverse cholesterol transport on plasma lipid and apolipoprotein levels in CARDIA participants. Arterioscler. Thromb. Vasc. Biol. 2006, 26: 1828-1836.
121. Patel, S. B., Salen, G., Hidaka, H., Kwiterovich, P. O., Stalenhoef, A. F., Miettinen, T. A., Grundy, S. M., Lee, M. H., Rubenstein, J. S., Polymeropoulos, M. H., Brownstein, M. J. Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. J. Clin. Invest. 1998, 102: 1041-1044.
122. Lu, K., Lee, M. H., Carpten, J. D., Sekhon, M., Patel, S. B. High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. Eur. J. Hum. Genet. 2001, 9: 364-374.
123. Yu, L., Hammer, R. E., Li-Hawkins, J., Von Bergmann, K., Lutjohann, D., Cohen, J. C., Hobbs, H. H. Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. Proc. Natl. Acad. Sci. U. S. A. 2002, 99: 16237-16242.
124. Berge, K. E., Tian, H., Graf, G. A., Yu, L., Grishin, N. V., Schultz, J., Kwiterovich, P., Shan, B., Barnes, R., Hobbs, H. H. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000, 290: 1771-1775.
125. Hubacek, J. A., Berge, K. E., Cohen, J. C., Hobbs, H. H. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum. Mutat. 2001, 18: 359-360.
126. Lee, M. H., Lu, K., Hazard, S., Yu, H., Shulenin, S., Hidaka, H., Kojima, H., Allikmets, R., Sakuma, N., Pegoraro, R., Srivastava, A. K., Salen, G., Dean, M., Patel, S. B. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat. Genet. 2001, 27: 79-83.
127. Heimerl, S., Langmann, T., Moehle, C., Mauerer, R., Dean, M., Beil, F. U., von Bergmann, K., Schmitz, G. Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. Hum. Mutat. 2002, 20: 151.
128. Bhattacharyya, A. K., Connor, W. E. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J. Clin. Invest. 1974, 53: 1033-1043.
129. Kempen, H. J., de Knijff, P., Boomsma, D. I., van der Voort, H. A., Gevers Leuven, J. A., Havekes, L. Plasma levels of lathosterol and phytosterols in relation to age, sex, anthropometric parameters, plasma lipids, and apolipoprotein E phenotype, in 160 Dutch families. Metabolism 1991, 40: 604-611.
130. Berge, K. E., von Bergmann, K., Lutjohann, D., Guerra, R., Grundy, S. M., Hobbs, H. H., Cohen, J. C. Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J. Lipid Res. 2002, 43: 486-494.
131. Gylling, H., Hallikainen, M., Pihlajamaki, J., Agren, J., Laakso, M., Rajaratnam, R. A., Rauramaa, R., Miettinen, T. A. Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. J. Lipid Res. 2004, 45: 1660-1665.
132. Plat, J., Bragt, M. C., Mensink, R. P. Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. J. Lipid Res. 2005, 46: 68-75.
133. Acalovschi, M., Ciocan, A., Mostean, O., Tirziu, S., Chiorean, E., Keppeler, H., Schirin-Sokhan, R., Lammert, F. Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones. Eur. J. Intern. Med. 2006, 17: 490-494.
134. Miwa, K., Inazu, A., Kobayashi, J., Higashikata, T., Nohara, A., Kawashiri, M., Katsuda, S., Takata, M., Koizumi, J., Mabuchi, H. ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects. Clin. Sci. (Lond). 2005, 109: 183-188.
135. Pandit, B., Ahn, G. S., Hazard, S. E., Gordon, D., Patel, S. B. A detailed Hapmap of the Sitosterolemia locus spanning 69 kb, differences between Caucasians and African-Americans. BMC Med. Genet. 2006, 7: 13.
136. Kajinami, K., Brousseau, M. E., Ordovas, J. M., Schaefer, E. J. Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin. Atherosclerosis 2004, 175: 287-293.
137. Rigotti, A., Acton, S. L., Krieger, M. The class B scavenger receptors SR-BI and CD36 are receptors for anionic phospholipids. J. Biol. Chem. 1995, 270: 16221-16224.
138. Murphy, J. E., Tedbury, P. R., Homer-Vanniasinkam, S., Walker, J. H., Ponnambalam, S. Biochemistry and cell biology of mammalian scavenger receptors. Atherosclerosis 2005, 182: 1-15.
139. Adachi, H., Tsujimoto, M. Endothelial scavenger receptors. Prog. Lipid Res. 2006, 45: 379-404.
140. Cao, G., Garcia, C. K., Wyne, K. L., Schultz, R. A., Parker, K. L., Hobbs, H. H. Structure and localization of the human gene encoding SR-BI/ CLA-1. Evidence for transcriptional control by steroidogenic factor 1. J. Biol. Chem. 1997, 272: 33068-33076.
141. Fox, C. S., Cupples, L. A., Chazaro, I., Polak, J. F., Wolf, P. A., D'Agostino, R. B., Ordovas, J. M., O'Donnell, C. J. Genomewide linkage analysis for internal carotid artery intimal medial thickness: evidence for linkage to chromosome 12. Am. J. Hum. Genet. 2004, 74: 253-261.
142. Acton, S., Osgood, D., Donoghue, M., Corella, D., Pocovi, M., Cenarro, A., Mozas, P., Keilty, J., Squazzo, S., Woolf, E. A., Ordovas, J. M. Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population. Arterioscler. Thromb. Vasc. Biol. 1999, 19: 1734-1743.
143. McCarthy, J. J., Lewitzky, S. and Permutt, A. SR-B1 variants associated with HDL cholesterol levels in three populations. A. J. Hum. Genet. 2001, 69: 383A.
144. McCarthy, J. J., Lehner, T., Reeves, C., Moliterno, D. J., Newby, L. K., Rogers, W. J., Topol, E. J. Association of genetic variants in the HDL receptor, SR-B1, with abnormal lipids in women with coronary artery disease. J. Med. Genet. 2003, 40: 453-458.
145. Imperatore, G., Knowler, W. C., Pettitt, D. J., Kobes, S., Fuller, J. H., Bennett, P. H., Hanson, R. L. A locus influencing total serum cholesterol on chromosome 19p: results from an autosomal genomic scan of serum lipid concentrations in Pima Indians. Arterioscler. Thromb. Vasc. Biol. 2000, 20: 2651-2656.
146. Mahaney, M. C., Almasy, L., Rainwater, D. L., VandeBerg, J. L., Cole, S. A., Hixson, J. E., Blangero, J., MacCluer, J. W. A quantitative trait locus on chromosome 16q influences variation in plasma HDL-C levels in Mexican Americans. Arterioscler. Thromb. Vasc. Biol. 2003, 23: 339-345.
147. Bosse, Y., Chagnon, Y. C., Despres, J. P., Rice, T., Rao, D. C., Bouchard, C., Perusse, L., Vohl, M. C. Genome-wide linkage scan reveals multiple susceptibility loci influencing lipid and lipoprotein levels in the Quebec Family Study. J. Lipid. Res. 2004, 45: 419-426.
148. Feitosa, M. F., Province, M. A., Heiss, G., Arnett, D. K., Myers, R. H., Pankow, J. S., Hopkins, P. N., Borecki, I. B. Evidence of QTL on 15q21 for high-density lipoprotein cholesterol: the National Heart, Lung, and Blood Institute Family Heart Study (NHLBI FHS). Atherosclerosis 2007, 190: 232-237.
149. Chen, W., Li, S., Srinivasan, S. R., Boerwinkle, E., Berenson, G. S. A genome scan for loci influencing levels and trends of lipoprotein lipid-related traits since childhood: The Bogalusa Heart Study. Atherosclerosis 2007, 190: 248-255.
150. Duggirala, R., Blangero, J., Almasy, L., Dyer, T. D., Williams, K. L., Leach, R. J., O'Connell, P., Stern, M. P. A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans. Am. J. Hum. Genet. 2000, 66: 1237-1245.
151. Li, W. D., Dong, C., Li, D., Garrigan, C., Price, R. A. A genome scan for serum triglyceride in obese nuclear families. J. Lipid Res. 2005, 46: 432-438.
152. Abifadel, M., Varret, M., Rabes, J. P., Allard, D., Ouguerram, K., Devillers, M., Cruaud, C., Benjannet, S., Wickham, L., Erlich, D., Derre, A., Villeger, L., Farnier, M., Beucler, L, Bruckert, E., Chambaz, J., Chanu, B., Lecerf, J. M., Luc, G., Moulin, P., Weissenbach, J., Prat, A., Krempf, M., Junien, C., Seidah, N. G., Boileau, C. Mutations in PCSK9 cause amosomal dominant hypercholesterolemia. Nat. Genet. 2003, 34: 154-156.
153. Leren, T. P. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin. Genet. 2004, 65: 419-422.
154. Timms, K. M., Wagner, S., Samuels, M. E., Forbey, K., Goldfine, H., Jammulapati, S., Skolnick, M. H., Hopkins, P. N., Hunt, S. C., Shattuck, D. M. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum. Genet. 2004, 114: 349-353.
155. Allard, D., Amsellem, S., Abifadel, M., Trillard, M., Devillers, M., Luc, G., Krempf, M., Reznik, Y., Girardet, J. P., Fredenrich, A., Junien, C., Varret, M., Boileau, C., Benlian, P., Rabes, J. P. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum. Mutat. 2005, 26: 497.
156. Cohen, J., Pertsemlidis, A., Kotowski, I. K., Graham, R., Garcia, C. K., Hobbs, H. H. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 2005, 37: 161-165.
157. Garcia, C. K., Wilund, K., Arca, M., Zuliani, G., Fellin, R., Maioli, M., Calandra, S., Bertolini, S., Cossu, F., Grishin, N., Barnes, R., Cohen, J. C., Hobbs, H. H. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 2001, 292: 1394-1398.
158. Arca, M., Zuliani, G., Wilund, K., Campagna, F., Fellin, R., Bertolini, S., Calandra, S., Ricci, G., Glorioso, N., Maioli, M., Pintus, P., Carru, C., Cossu, F., Cohen, J., Hobbs, H. H. Autosomal recessive hypercholesterolaemia, in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet 2002, 359: 841-847.
159. Paoletti, R., Gotto, A. M., Jr., Hajjar, D. P. Inflammation in atherosclerosis and implications for therapy. Circulation 2004, 109: III20-26.
160. Yoon, S., Tromp, G., Vongpunsawad, S., Ronkainen, A., Juvonen, T., Kuivaniemi, H. Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms. Biochem. Biophys. Res. Commun. 1999, 265: 563-568.
161. Fujii, D., Brissenden, J.E., Derynck, R., Francke, U. Transforming growth factor beta gene (TGFB) maps to human chromosome 19. Cytogenet. Cell Genet. 1985, 40: 632.
162. Fujii, D., Brissenden, J. E., Derynck, R., Francke, U. Transforming growth factor beta gene maps to human chromosome 19 long arm and to mouse chromosome 7. Somat. Cell Mol. Genet. 1986, 12: 281-288.
163. Blobe, G. C., Schiemann, W. P., Lodish, H. F. Role of transforming growth factor beta in human disease. N. Engl. J. Med. 2000, 342: 1350-1358.
164. Grainger, D. J., Heathcote, K., Chiano, M., Snieder, H., Kemp, P. R., Metcalfe, J. C., Carter, N. D., Spector, T. D. Genetic control of the circulating concentration of transforming growth factor type beta1. Hum. Mol. Genet. 1999, 8: 93-97.
165. Shah, R., Hurley, C. K., Posch, P. E. A molecular mechanism for the differential regulation of TGF-beta1 expression due to the common SNP -509C-T (c. -1347C > T). Hum. Genet. 2006, 120: 461-469.
166. Grainger, D. J., Kemp, P. R., Liu, A. C., Lawn, R. M., Metcalfe, J. C. Activation of transforming growth factor-beta is inhibited in transgenic apolipoprotein(a) mice. Nature 1994, 370: 460-462.
167. Grainger, D. J., Kemp, P. R., Metcalfe, J. C., Liu, A. C., Lawn, R. M., Williams, N. R., Grace, A. A., Schofield, P. M., Chauhan, A. The serum concentration of active transforming growth factor-beta is severely depressed in advanced atherosclerosis. Nat. Med. 1995, 1: 74-79.
168. Mallat, Z., Gojova, A., Marchiol-Fournigault, C., Esposito, B., Kamate, C., Merval, R., Fradelizi, D., Tedgui, A. Inhibition of transforming growth factor-beta signaling accelerates atherosclerosis and induces an unstable plaque phenotype in mice. Circ. Res. 2001, 89: 930-934.
169. Mallat, Z., Tedgui, A. The role of transforming growth factor beta in atherosclerosis: novel insights and future perspectives. Curr. Opin. Lipidol. 2002, 13: 523-529.
170. Sie, M. P., Uitterlinden, A. G., Bos, M. J., Arp, P. P., Breteler, M. M., Koudstaal, P. J., Pols, H. A., Hofman, A., van Duijn, C. M., Witteman, J. C. TGF-beta 1 polymorphisms and risk of myocardial infarction and stroke: the Rotterdam Study. Stroke 2006, 37: 2667-2671.
171. Akira, S., Hemmi, H. Recognition of pathogen-associated molecular patterns by TLR family. Immunol. Lett. 2003, 85: 85-95.
172. Hajjar, A. M., Ernst, R. K., Tsai, J. H., Wilson, C. B., Miller, S. I. Human Toll-like receptor 4 recognizes host-specific LPS modifications. Nat. Immunol. 2002, 3: 354-359.
173. Dybdahl, B., Wahba, A., Lien, E., Flo, T. H., Waage, A., Qureshi, N., Sellevold, O. F., Espevik, T., Sundan, A. Inflammatory response after open heart surgery: release of heat-shock protein 70 and signaling through toll-like receptor-4. Circulation 2002, 105: 685-690.
174. Ueki, K., Tabeta, K., Yoshie, H., Yamazaki, K. Self-heat shock protein 60 induces tumour necrosis factor-alpha in monocyte-derived macrophage: possible role in chronic inflammatory periodontal disease. Clin. Exp. Immunol. 2002, 127: 72-77.
175. Underhill, D. M., Ozinsky, A. Toll-like receptors: key mediators of microbe detection. Curr. Opin. Immunol. 2002, 14: 103-110.
176. Uematsu, S., Akira, S. Toll-like receptors and innate immunity. J. Mol. Med. 2006, 84: 712-725.
177. Pasterkamp, G., Van Keulen, J. K., De Kleijn, D. P. Role of Toll-like receptor 4 in the initiation and progression of atherosclerotic disease. Eur. J. Clin. Invest. 2004, 34: 328-334.
178. Xu, X. H., Shah, P. K., Faure, E., Equils, O., Thomas, L., Fishbein, M. C., Luthringer, D., Xu, X. P., Rajavashisth, T. B., Yano, J., Kaul, S., Arditi, M. Toll-like receptor-4 is expressed by macrophages in murine and human lipid-rich atherosclerotic plaques and upregulated by oxidized LDL. Circulation 2001, 104: 3103-3108.
179. Hoebe, K., Georgel, P., Rutschmann, S., Du, X., Mudd, S., Crozat, K., Sovath, S., Shamel, L., Hartung, T., Zahringer, U., Beutler, B. CD36 is a sensor of diacylglycerides. Nature 2005, 433: 523-527.
180. Seimon, T. A., Obstfeld, A., Moore, K. J., Golenbock, D. T., Tabas, I. Combinatorial pattern recognition receptor signaling alters the balance of life and death in macrophages. Proc. Natl. Acad. Sci. U. S. A. 2006, 103: 19794-19799.
181. Rock, F. L., Hardiman, G., Timans, J. C., Kastelein, R. A., Bazan, J. F. A family of human receptors structurally related to Drosophila, Toll. Proc. Natl. Acad. Sci. U. S. A. 1998, 95: 588-593.
182. Arbour, N. C., Lorenz, E., Schulte, B. C., Zabner, J., Kline, J. N., Jones, M., Frees, K., Watt, J. L., Schwartz, D. A. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat. Genet. 2000, 25: 187-191.
183. Ameziane, N., Beillat, T., Verpillat, P., Chollet-Marlin, S., Aumont, M. C., Seknadji, P., Lamotte, M., Lebret, D., Ollivier, V., de Prost, D. Association of the Toll-like receptor 4 gene Asp299Gly polymorphism with acute coronary events. Arterioscler. Thromb. Vasc. Biol. 2003, 23: e6l-64.
184. Edfeldt, K., Bennet, A. M., Eriksson, P., Frostegard, J., Wiman, B., Hamsten, A., Hansson, G. K., de Faire, U., Yan, Z. Q. Association of hypo-responsive toll-like receptor 4 variants with risk of myocardial infarction. Eur. Heart J. 2004, 25: 1447-1453.
185. Holloway, J. W., Yang, I. A., Ye, S. Variation in the toll-like receptor 4 gene and susceptibility to myocardial infarction. Pharmacogenet. Genomics 2005, 15: 15-21.
186. Hernesniemi, J., Lehtimaki, T., Rontu, R., Islam, M. S., Eklund, C., Mikkelsson, J., Ilveskoski, E., Kajander, O., Goebeler, S., Viiri, L. E., Hurme, M., Karhunen, P. J. Toll-like receptor 4 polymorphism is associated with coronary stenosis but not with the occurrence of acute or old myocardial infarctions. Scand. J. Clin. Lab. Invest. 2006, 66: 667-675.
187. Koch, W., Hoppmann, P., Pfeufer, A., Schomig, A., Kastrati, A. Toll-like receptor 4 gene polymorphisms and myocardial infarction: no association in a Caucasian population. Eur. Heart J. 2006, 27: 2524-2529.
188. Kunjathoor, V. V., Febbraio, M., Podrez, E. A., Moore, K. J., Andersson, L., Koehn, S., Rhee, J. S., Silverstein, R., Hoff, H. F., Freeman, M. W. Scavenger receptors class A-I/II and CD36 are the principal receptors responsible for the uptake of modified low density lipoprotein leading to lipid loading in macrophages. J. Biol. Chem. 2002, 277: 49982-49988.
189. Matsumoto, A., Naito, M., Itakura, H., Ikemoto, S., Asaoka, H., Hayakawa, I., Kanamori, H., Aburatani, H., Takaku, F., Suzuki, H., Kobari, Y., Miyai, T., Takahashi, K., Cohen, E. H., Wydro, R., Housman, D. E., Kodama, T. Human macrophage scavenger receptors: primary structure, expression, and localization in atherosclerotic lesions. Proc. Natl. Acad. Sci. U. S. A. 1990, 87: 9133-9137.
190. Emi, M., Asaoka, H., Matsumoto, A., Itakura, H., Kurihara, Y., Wada, Y., Kanamori, H., Yazaki, Y., Takahashi, E., Lepert, M., Lalouel, J. M., Kodama, T., Mukai, T. Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene. J. Biol. Chem. 1993, 268: 2120-2125.
191. Xu, J., Zheng, S. L., Komiya, A., Mychaleckyj, J. C., Isaacs, S. D., Hu, J. J., Sterling, D., Lange, E. M., Hawkins, G. A., Turner, A., Ewing, C. M., Faith, D. A., Johnson, J. R., Suzuki, H., Bujnovszky, P., Wiley, K. E., DeMarzo, A. M., Bova, G. S., Chang, B., Hall, M. C., McCullough, D. L., Partin, A. W., Kassabian, V. S., Carpten, J. D., Bailey-Wilson, J. E., Trent, J. M., Ohar, J., Bleecker, E. R., Walsh, P. C., Isaacs, W. B., Meyers, D. A. Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat. Genet. 2002, 32: 321-325.
192. Giachelli, C. M., Steitz, S. Osteopontin: a versatile regulator of inflammation and biomineralization. Matrix Biol. 2000, 19: 615-622.
193. Ikeda, T., Shirasawa, T., Esaki, Y., Yoshiki, S., Hirokawa, K. Osteopontin mRNA is expressed by smooth muscle-derived foam cells in human atherosclerotic lesions of the aorta. J. Clin. Invest. 1993, 92: 2814-2820.
194. Fitzpatrick, L. A., Severson, A., Edwards, W. D., Ingram, R. T. Diffuse calcification in human coronary arteries. Association of osteopontin with atherosclerosis. J. Clin. Invest. 1994, 94: 1597-1604.
195. Srivatsa, S. S., Harrity, P. J., Maercklein, P. B., Kleppe, L., Veinot, J., Edwards, W. D., Johnson, C. M., Fitzpatrick, L. A. Increased cellular expression of matrix proteins that regulate mineralization is associated with calcification of native human and porcine xenograft bioprosthetic heart valves. J. Clin. Invest. 1997, 99: 996-1009.
196. Liaw, L., Almeida, M., Hart, C. E., Schwartz, S. M., Giachelli, C. M. Osteopontin promotes vascular cell adhesion and spreading and is chemotactic for smooth muscle cells in vitro. Circ. Res. 1994, 74: 214-224.
197. Senger, D. R., Ledbetter, S. R., Claffey, K. P., Papadopoulos-Sergiou, A., Peruzzi, C. A., Detmar, M. Stimulation of endothelial cell migration by vascular permeability factor/vascular endothelial growth factor through cooperative mechanisms involving the alphavbeta3 integrin, osteopontin, and thrombin. Am. J. Pathol. 1996, 149: 293-305.
198. Crosby, A. H., Lyu, M. S., Lin, K., McBride, O. W., Kerr, J. M., Aplin, H. M., Fisher, L. W., Young, M. F., Kozak, C. A., Dixon, M. J. Mapping of the human and mouse bone sialoprotein and osteopontin loci. Mamm. Genome 1996, 7: 149-151.
199. Taylor, B. C., Schreiner, P. J., Doherty, T. M., Fornage, M., Carr, J. J., Sidney, S. Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study. Hum. Genet. 2005, 116: 525-528.
200. Brenner, D., Labreuche, J., Touboul, P. J., Schmidt-Petersen, K., Poirier, O., Perret, C., Schonfelder, J., Combadiere, C., Lathrop, M., Cambien, F., Brand-Herrmann, S. M., Amarenco, P. Cytokine polymorphisms associated with carotid intima-media thickness in stroke patients. Stroke 2006, 37: 1691-1696.
201. Tan, K. B., Harrop, J., Reddy, M., Young, P., Terrell, J., Emery, J., Moore, G., Truneh, A. Characterization of a novel TNT-like ligand and recently described TNF ligand and TNF receptor superfamily genes and their constitutive and inducible expression in hematopoietic and non-hematopoietic cells. Gene 1997, 204: 35-46.
202. Simonet, W. S., Lacey, D. L., Dunstan, C. R., Kelley, M., Chang, M. S., Luthy, R., Nguyen, H. Q., Wooden, S., Bennett, L., Boone, T., Shimamoto, G., DeRose, M., Elliott, R., Colombero, A., Tan, H. L., Trail, G., Sullivan, J., Davy, E., Bucay, N., Renshaw-Gegg, L., Hughes, T. M., Hill, D., Pattison, W., Campbell, P., Sander, S., Van, G., Tarpley, J., Derby, P., Lee, R., Boyle, W. J. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell 1997, 89: 309-319.
203. Min, H., Morony, S., Sarosi, I., Dunstan, C. R., Capparelli, C., Scully, S., Van, G., Kaufman, S., Kostenuik, P. J., Lacey, D. L., Boyle, W. J., Simonet, W. S. Osteoprotegerin reverses osteoporosis by inhibiting endosteal osteoclasts and prevents vascular calcification by blocking a process resembling osteoclastogenesis. J. Exp. Med. 2000, 192: 463-474.
204. Golledge, J., McCann, M., Mangan, S., Lam, A., Karan, M. Osteoprotegerin and osteopontin are expressed at high concentrations within symptomatic carotid atherosclerosis. Stroke 2004, 35: 1636-1641.
205. Rhee, E. J., Oh, K. W., Jung, C. H., Lee, W. Y., Oh, E. S., Yun, E. J., Baek, K. H., Kang, M. I., Kim, S. W. The relationship between four single nucleotide polymorphisms in the promoter region of the osteoprotegerin gene and aortic calcification or coronary artery disease in Koreans. Clin. Endocrinol. (Oxf). 2006, 64: 689-697.
206. Soufi, M., Schoppet, M., Sattler, A. M., Herzum, M., Maisch, B., Hofbauer, L. C., Schaefer, J. R. Osteoprotegerin gene polymorphisms in men with coronary artery disease. J. Clin. Endocrinol. Metab. 2004, 89: 3764-3768.
207. Greenlee, K. J., Werb, Z., Kheradmand, F. Matrix metalloproteinases in lung: multiple, multifarious, and multifaceted. Physiol. Rev. 2007, 87: 69-98.
208. Loftus, I. M., Naylor, A. R., Goodall, S., Crowther, M., Jones, L., Bell, P. R., Thompson, M. M. Increased matrix metalloproteinase-9 activity in unstable carotid plaques. A potential role in acute plaque disruption. Stroke 2000, 31: 40-47.
209. Ghilardi, G., Biondi, M. L., DeMonti, M., Turri, O., Guagnellini, E., Scorza, R. Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with carotid artery stenosis. Stroke 2002, 33: 2408-2412.
210. Fiotti, N., Altamura, N., Fisicaro, M., Carraro, N., Uxa, L., Grassi, G., Torelli, L., Gobbato, R., Guarnieri, G., Baxter, B. T., Giansante, C. MMP-9 microsatellite polymorphism and susceptibility to carotid arteries atherosclerosis. Arterioscler. Thromb. Vasc. Biol. 2006, 26: 1330-1336.
211. Lange, L. A., Lange, E. M., Bielak, L. F., Langefeld, C. D., Kardia, S. L., Royston, P., Turner, S. T., Sheedy, P. F., 2nd, Boerwinkle, E., Peyser, P. A. Autosomal genome-wide scan for coronary artery calcification loci in sibships at high risk for hypertension. Arterioscler. Thromb. Vasc. Biol. 2002, 22: 418-423.
212. Smith, C. L., Anthony, S., Hubank, M., Leiper, J. M., Vallance, P. Effects of ADMA upon gene expression: an insight into the pathophysiological significance of raised plasma ADMA. PLoS. Med. 2005, 2: e264.
213. Boger, R. H., Vallance, P., Cooke, J. P. Asymmetric dimethylarginine (ADMA): a key regulator of nitric oxide synthase. Atheroscler. Suppl. 2003, 4: 1-3.
214. Wang, D., Yang, H., Quinones, M. J., Bulnes-Enriquez, I., Jimenez, X., De La Rosa, R., Modilevsky, T., Yu, K., Li, Y., Taylor, K. D., Hsueh, W. A., Hodis, H. N., Rotter, J. I. A genome-wide scan for carotid artery intima-media thickness: the Mexican-American Coronary Artery Disease family study. Stroke 2005, 36: 540-545.
215. Pajukanta, P., Cargill, M., Viitanen, L., Nuotio, I., Kareinen, A., Perola, M., Terwilliger, J. D., Kempas, E., Daly, M., Lilja, H., Rioux, J. D., Brettin, T., Viikari, J. S., Ronnemaa, T., Laakso, M., Lander, E. S., Peltonen, L. Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am. J. Hum. Genet. 2000, 67: 1481-1493.
216. Francke, S., Manraj, M., Lacquemant, C., Lecoeur, C., Lepretre, F., Passa, P., Hebe, A., Corset, L., Yan, S. L., Lahmidi, S., Jankee, S., Gunness, T. K., Ramjuttun, U. S., Balgobin, V., Dina, C., Froguel, P. A genome-wide scan for coronary heart disease suggests in Indo-Mauritians a susceptibility locus on chromosome 16p13 and replicates linkage with the metabolic syndrome on 3q27. Hum. Mol. Genet. 2001, 10: 2751-2765.
217. Broeckel, U., Hengstenberg, C., Mayer, B., Holmer, S., Martin, L. J., Comuzzie, A. G., Blangero, J., Numberg, P., Reis, A., Riegger, G. A., Jacob, H. J., Schunkert, H. A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat. Genet. 2002, 30: 210-214.
218. Harrap, S. B., Zammit, K. S., Wong, Z. Y., Williams, F. M., Bahlo, M., Tonkin, A. M., Anderson, S. T. Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2. Arterioscler. Thromb. Vasc. Biol. 2002, 22: 874-878.
219. Hauser, E. R., Crossman, D. C., Granger, C. B., Haines, J. L., Jones, C. J., Mooser, V., McAdam, B., Winkelmann, B. R., Wiseman, A. H., Muhlestein, J. B., Bartel, A. G., Dennis, C. A., Dowdy, E., Estabrooks, S., Eggleston, K., Francis, S., Roche, K., Clevenger, P. W., Huang, L., Pedersen, B., Shah, S., Schmidt, S., Haynes, C., West, S., Asper, D., Booze, M., Sharma, S., Sundseth, S., Middleton, L., Roses, A. D., Hauser, M. A., Vance, J. M., Pericak-Vance, M. A., Kraus, W. E. A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. Am. J. Hum. Genet. 2004, 75: 436-447.
220. Helgadottir, A., Manolescu, A., Thorleifsson, G., Gretarsdottir, S., Jonsdottir, H., Thorsteinsdottir, U., Samani, N. J., Gudmundsson, G., Grant, S. F., Thorgeirsson, G., Sveinbjornsdottir, S., Valdimarsson, E. M., Matthiasson, S. E., Johannsson, H., Gudmundsdottir, O., Gurney, M. E., Sainz, J., Thorhallsdottir, M., Andresdottir, M., Frigge, M. L., Topol, E. J., Kong, A., Gudnason, V., Hakonarson, H., Gulcher, J. R., Stefansson, K. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat. Genet. 2004, 36: 233-239.
221. Wang, Q., Rao, S., Shen, G. Q., Li, L., Moliterno, D. J., Newby, L. K., Rogers, W. J., Cannata, R., Zirzow, E., Elston, R. C., Topol, E. J. Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis. Am. J. Hum. Genet. 2004, 74: 262-271.
222. Samani, N. J., Burton, P., Mangino, M., Ball, S. G., Balmforth, A. J., Barrett, J., Bishop, T., Hall, A. A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study. Am. J. Hum. Genet. 2005, 77: 1011-1020.
223. Helgadottir, A., Manolescu, A., Helgason, A., Thorleifsson, G., Thorsteinsdottir, U., Gudbjartsson, D. F., Gretarsdottir, S., Magnusson, K. P., Gudmundsson, G., Hicks, A., Jonsson, T., Grant, S. F., Sainz, J., O'Brien, S. J., Sveinbjornsdottir, S., Valdimarsson, E. M., Matthiasson, S. E., Levey, A. I., Abramson, J. L., Reilly, M. P., Vaccarino, V., Wolfe, M. L., Gudnason, V., Quyyumi, A. A., Topol, E. J., Rader, D. J., Thorgeirsson, G., Gulcher, J. R., Hakonarson, H., Kong, A., Stefansson, K. A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat. Genet. 2006, 38: 68-74.
224. Peacock, J. M., Arnett, D. K., Atwood, L. D., Myers, R. H., Coon, H., Rich, S. S., Province, M. A., Heiss, G. Genome scan for quantitative trait loci linked to high-density lipoprotein cholesterol: The NHLBI Family Heart Study. Arterioscler. Thromb. Vasc. Biol. 2001, 21: 1823-1828.
225. Gagnon, F., Jarvik, G. P., Badzioch, M. D., Motulsky, A. G., Brunzell, J. D., Wijsman, E. M. Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia. Hum. Genet. 2005, 117: 494-505.
226. Soro, A., Pajukanta, P., Lilja, H. E., Ylitalo, K., Hiekkalinna, T., Perola, M., Cantor, R. M., Viikari, J. S., Taskinen, M. R., Peltonen, L. Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families. Am. J. Hum. Genet. 2002, 70: 1333-1340.
227. Pollin, T. I., Hsueh, W. C., Steinle, N. I., Snitker, S., Shuldiner, A. R., Mitchell, B. D. A genome-wide scan of serum lipid levels in the Old Order Amish. Atherosclerosis 2004, 173: 89-96.
228. Austin, M. A., Edwards, K. L., Monks, S. A., Koprowicz, K. M., Brunzell, J. D., Motulsky, A. G., Mahaney, M. C., Hixson, J. E. Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia. J. Lipid Res. 2003, 44: 2161-2168.
229. Shearman, A. M., Ordovas, J. M., Cupples, L. A., Schaefer, E. J., Harmon, M. D., Shao, Y., Keen, J. D., DeStefano, A. L., Joost, O., Wilson, P. W., Housman, D. E., Myers, R. H. Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study. Hum. Mol. Genet. 2000, 9: 1315-1320.
230. de Lange, M., Spector, T. D., Andrew, T. Genome-wide scan for blood pressure suggests linkage to chromosome 11, and replication of loci on 16, 17, and 22. Hypertension 2004, 44: 872-877.