Single-nucleotide polymorphisms in the lipoprotein lipase gene associated with coronary heart disease in Chinese

European Journal of Pharmacology

Volumn 454, Issue 1, 2002, Pages 9-18

  Su, Zhi G ^a   Zhang, Si Z ^a   Hou, Yi P ^b   Li, T ^a   Nebert, Daniel W ^c   Zhang, L ^a   Huang, De J ^a   Liao, Lin C ^b   Xiao, Cui Y ^a  

^a SICHUAN UNIVERSITY   (China)

^b SICHUAN UNIVERSITY   (China)

^c UNIVERSITY OF CINCINNATI MEDICAL CENTER   (United States)

Author keywords

Chinese population study; Coronary heart disease; Dyslipidemia; High density lipoprotein; Lipoprotein lipase gene; Single nucleotide polymorphism; Triglyceride

Indexed keywords

HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; APOLIPOPROTEIN; LIPOPROTEIN;

ADULT; ARTICLE; CHINA; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DNA FLANKING REGION; EXON; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; INTRON; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL; ASIAN; BLOOD; CORONARY ARTERY DISEASE; GENE FREQUENCY; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MIDDLE AGED; PHENOTYPE;

ADULT; APOLIPOPROTEINS; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CORONARY DISEASE; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; LIPOPROTEIN LIPASE; LIPOPROTEINS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS;

EID: 0036843805     PISSN: 00142999     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-2999(02)02427-5     Document Type: Article

References (54)

1. Auwerx J., Leroy P., Schoonjans K. Lipoprotein lipase: recent contributions from molecular biology. Crit. Rev. Clin. Lab. Sci. 29:1992;243-268.
2. Bainton D., Miller N.E., Bolton C.H., Yarnell J.W., Sweetnam P.M., Baker I.A., Lewis B., Elwood P.C. Plasma triglyceride and high density lipoprotein cholesterol as predictors of ischaemic heart disease in British men. The caerphilly and speedwell collaborative heart disease studies. Br. Heart J. 68:1992;60-66.
3. Benlian P., De Gennes J.L., Foubert L., Zhang H., Gagne S.E., Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N. Engl. J. Med. 23:1996;848-854.
4. Bijvoet S., Gagne S.E., Moorjani S., Gagne C., Henderson H.E., Fruchart J.C., Dallongeville J., Alaupovic P., Prins M., Kastelein J.J., Hayden M.R. Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency. J. Lipid Res. 37:1996;640-650.
5. Bond C., LaForge K.S., Tian M., Melia D., Zhang S., Borg L., Gong J., Schluger J., Strong J.A., Leal S.M., Tischfield J.A., Kreek M.J., Yu L. Single-nucleotide polymorphism in the human: opioid receptor gene alters ∃-endorphin binding and activity: possible implications for opiate addiction. Proc. Natl. Acad. Sci. U. S. A. 95:1998;9608-9613.
6. Brookes A.J. The essence of SNPs. Gene. 234:1999;177-186.
7. Bruzell J.D. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;1913-1932 McGraw-Hill, New York.
8. Clark A.G. Inference of haplotypes from PCR-amplified samples of diploid populations. Mol. Biol. Evol. 7:1990;111-122.
9. Clark A.G., Weiss K.M., Nickerson D.A., Taylor S.L., Buchanan A., Stengard J., Salomaa V., Vartiainen E., Perola M., Boerwinkle E., Sing C.F. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am. J. Hum. Genet. 63:1998;595-612.
10. Cullen P., Assmann G. High risk strategies for atherosclerosis. Clin. Chim. Acta. 286:1999;31-45.
11. Cullen P., von Eckardstein A., Assmann G. Diagnosis and management of new cardiovascular risk factors. Eur. Heart J. 19(Suppl. O):1998;13-19.
12. Ehrenborg E., Clee S.M., Pimstone S.N., Reymer P.W., Benlian P., Hoogendijk C.F., Davis H.J., Bissada N., Miao L., Gagne S.E., Greenberg L.J., Henry R., Henderson H., Ordovas J.M., Schaefer E.J., Kastelein J.J., Kotze M.J., Hayden M.R. Ethnic variation and in vivo effects of the -93T>G promoter variant in the lipoprotein lipase gene. Arterioscler. Thromb. Vasc. Biol. 17:1997;2672-2678.
13. Enerback S., Ohlsson B.G., Samuelsson L., Bjursell G. Characterization of the human lipoprotein lipase promoter: evidence of two cis-regulatory regions, LP-∀ and LP-∃, of importance for the differentiation-linked induction of the LPL gene during adipogenesis. Mol. Cell. Biol. 12:1992;4622-4633.
14. Fisher R.M., Humphries S.E., Talmud P.J. Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Atherosclerosis. 135:1997;145-159.
15. Friedewald W.T., Levy R.I., Fredrickson D.S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin. Chem. 18:1972;499-502.
16. Funke H., Assmann G. The low-down on lipoprotein lipase. Nat. Genet. 10:1995;6-7.
17. Gelbert L.M., Gregg R.E. Will genetics really revolutionize the drug discovery process? Curr. Opin. Biotechnol. 8:1997;669-674.
18. Gray I.C., Campbell D.A., Spurr N.K. Single-nucleotide polymorphisms as tools in human genetics. Hum. Mol. Genet. 9:2000;2403-2408.
19. Hayden M.R., Kastelein J.J., Funke H., Brunzell J.D., Ma Y. Phenotypic variation of mutations in the human lipoprotein lipase gene. Biochem. Soc. Trans. 21:1993;506-509.
20. Henderson H.E., Kastelein J.J., Zwinderman A.H., Gagne E., Jukema J.W., Reymer P.W., Groenemeyer B.E., Lie K.I., Bruschke A.V., Hayden M.R., Jansen H. Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins. J. Lipid Res. 40:1999;735-743.
21. Holzl B., Kraft H.G., Wiebusch H., Sandhofer A., Patsch J., Sandhofer F., Paulweber B. Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23. J. Lipid Res. 41:2000;734-741.
22. Humphries S.E., Nicaud V., Margalef J., Tiret L., Talmud P.J. Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides: the European Atherosclerosis Research Study (EARS). Arterioscler. Thromb. Vasc. Biol. 18:1998;526-534.
23. Jemaa R., Fumeron F., Poirier O., Lecerf L., Evans A., Arveiler D., Luc G., Cambou J.P., Bard J.M., Fruchart J.C. Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the Etude Cas Temoin sur l'Infarctus du Myocarde (ECTIM) study. J. Lipid Res. 36:1995;2141-2146.
24. Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22:1999;139-144.
25. Kruglyak L., Nickerson D.A. Variation is the spice of life. Nat. Genet. 27:2000;234-236.
26. Lusis A.J. Atherosclerosis. Nature. 407:2000;233-241.
27. Miesenbock G., Holzl B., Foger B., Brandstatter E., Paulweber B., Sandhofer F., Patsch J.R. Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J. Clin. Invest. 91:1993;448-455.
28. Miller S.A., Dykes D.D., Polesky H.F. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
29. Minnich A., Kessling A., Roy M., Giry C., DeLangavant G., Lavigne J., Lussier-Cacan S., Davignon J. Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent. J. Lipid Res. 36:1995;117-124.
30. Moennig G., Wiebusch H., Enbergs A., Dorszewski A., Kerber S., Schulte H., Vielhauer C., Haverkamp W., Assmann G., Breithardt G., Funke H. Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography. Atherosclerosis. 149:2000;395-401.
31. Murthy V., Julien P., Gagne C. Molecular pathobiology of the human lipoprotein lipase gene. Pharmacol. Ther. 70:1996;101-135.
32. Nebert D.W. Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist? Clin. Genet. 56:1999;247-258.
33. Nebert D.W. "Extreme discordant phenotype" methodology: an intuitive approach to clinical pharmacogenetics. Eur. J. Pharmacol. 410:2000;107-120.
34. Nebert D.W. Suggestions for the nomenclature of human alleles: relevance to ecogenetics, pharmacogenetics and molecular epidemiology. Pharmacogenetics. 10:2000;279-290.
35. Nickerson D.A., Taylor S.L., Weiss K.M., Clark A.G., Hutchinson R.G., Stengard J., Salomaa V., Vartiainen E., Boerwinkle E., Sing C.F. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat. Genet. 19:1998;233-240.
36. Normand T., Bergeron J., Fernandez-Margallo T., Bharucha A., Ven Murthy M.R., Julien P., Gagne C., Dionne C., De Braekeleer M., Ma R. Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec. Hum. Genet. 89:1992;671-675.
37. Paulweber B., Wiebusch H., Miesenboeck G., Funke H., Assmann G., Hoelzl B., Sippl M.J., Friedl W., Patsch J.R., Sandhofer F. Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. Atherosclerosis. 86:1991;239-250.
38. Peacock R.E., Hamsten A., Nilsson-Ehle P., Humphries S.E. Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden. Atherosclerosis. 97:1992;171-185.
39. Pimstone S.N., Clee S.M., Gagne S.E., Miao L., Zhang H.E., Stein A., Hayden M.R. A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers. J. Lipid Res. 37:1996;1675-1684.
40. Previato L., Parrott C.L., Santamarina-Fojo S., Brewer H.B. Jr. Transcriptional regulation of the human lipoprotein lipase gene in 3T3-L1 adipocytes. J. Biol. Chem. 266:1991;18958-18963.
41. Schoonjans K., Staels B., Devos P., Szpirer J., Szpirer C., Deeb S., Verhoeven G., Auwerx J. Developmental extinction of liver lipoprotein lipase mRNA expression might be regulated by an NF-1-like site. FEBS Lett. 329:1993;89-95.
42. Schwertz D.W., Penckofer S. Sex differences and the effects of sex hormones on hemostasis and vascular reactivity. Heart Lung. 30:2001;401-426.
43. Sparkes R.S., Zollman S., Klisak I., Kirchgessner T.G., Komaromy M.C., Mohandas T., Schotz M.C., Lusis A.J. Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics. 1:1987;138-144.
44. Templeton A.R., Clark A.G., Weiss K.M., Nickerson D.A., Boerwinkle E., Sing C.F. Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am. J. Hum. Genet. 66:2000;69-83.
45. Terwilliger J., Ott J. Handbook for Human Genetic Linkage. 1994;Johns Hopkins Univ. Press, Baltimore.
46. Thorn J.A., Chamberlain J.C., Alcolado J.C., Oka K., Chan L., Stocks J., Galton D.J. Lipoprotein and hepatic lipase gene variants in coronary atherosclerosis. Atherosclerosis. 85:1990;55-60.
47. Underhill P.A., Jin L., Lin A.A., Mehdi S.Q., Jenkins T., Vollrath D., Davis R.W., Cavalli-Sforza L.L., Oefner P.J. Nucleotide detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 7:1997;996-1005.
48. Wang C.S., Hartsuck J., McConathy W.J. Structure and functional properties of lipoprotein lipase. Biochim. Biophys. Acta. 1123:1992;1-17.
49. Wang D.G., Fan J.B., Siao C.J., Berno A., Young P., Sapolsky R., Ghandour G., Perkins N., Winchester E., Spencer J., Kruglyak L., Stein L., Hsie L., Topaloglou T., Hubbell E., Robinson E., Mittmann M., Morris M.S., Shen N., Kilburn D., Rioux J., Nusbaum C., Rozen S., Hudson T.J., Lander E.S. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science. 280:1998;1077-1082.
50. Wilson D.E., Emi M., Iverius P.H., Hata A., Wu L.L., Hillas E., Williams R.R., Lalouel J.M. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J. Clin. Invest. 86:1990;735-750.
51. Wion K.L., Kirchgessner T.G., Lusis A.J., Schota M.C., Lawn R.M. Human lipoprotein lipase complementary DNA sequence. Science. 235:1987;1638-1641.
52. Wittekoek M.E., Pimstone S.N., Reymer P.W., Feuth L., Botma G.J., Defesche J.C., Prins M., Hayden M.R., Kastelein J.J. A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia. Circulation. 97:1998;729-735.
53. Zhao J.H., Sham P.C., Curtis D. A program for the Monte Carlo evaluation of significance of the extended transmission/disequilibrium test. Am. J. Hum. Genet. 64:1999;1484-1485.
54. Zhao J.H., Curtis D., Sham P.C. Model-free analysis and permutation test for allelic associations. Hum. Hered. 50:2000;133-139.