Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Middelberg, Rita P S ^a,b   Ferreira, Manuel A R ^a   Henders, Anjali K ^a   Heath, Andrew C ^c   Madden, Pamela A F ^c   Montgomery, Grant W ^a   Martin, Nicholas G ^a   Whitfield, John B ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b THE PRINCE CHARLES HOSPITAL   (Australia)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; C REACTIVE PROTEIN; CHOLINESTERASE; FERRITIN; GAMMA GLUTAMYLTRANSFERASE; GLUCOSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; URIC ACID; 2',5' OLIGOADENYLATE SYNTHETASE; APOLIPOPROTEIN C; APOLIPOPROTEIN C 4, HUMAN; APOLIPOPROTEIN C I, HUMAN; APOLIPOPROTEIN C-4, HUMAN; APOLIPOPROTEIN C-I, HUMAN; APOLIPOPROTEIN C1; APOLIPOPROTEIN C2; APOLIPOPROTEIN E; CARRIER PROTEIN; LIPOPROTEIN LIPASE; OASL PROTEIN, HUMAN; TOMM40 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUSTRALIA; BODY MASS; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHROMOSOME 12; CHROMOSOME 19; CHROMOSOME 8; FEMALE; GENE; GENE CLUSTER; GENE LOCUS; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFLAMMATION; LPL GENE; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE ANALYSIS; OASL GENE; PHENOTYPE; TOMM 40 GENE; TWINS; UNIVARIATE ANALYSIS; ALLELE; GENETIC PREDISPOSITION; GENETICS; RISK;

2',5'-OLIGOADENYLATE SYNTHETASE; ADOLESCENT; ADULT; ALLELES; APOLIPOPROTEIN C-I; APOLIPOPROTEIN C-II; APOLIPOPROTEINS C; APOLIPOPROTEINS E; CARDIOVASCULAR DISEASES; DISEASES IN TWINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LIPOPROTEIN LIPASE; MALE; MEMBRANE TRANSPORT PROTEINS; MULTIVARIATE ANALYSIS; PHENOTYPE; RISK;

EID: 80053173074     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-123     Document Type: Article

References (61)

1. Amos CI, Elston RC, Bonney GE, Keats BJ, Berenson GS. A multivariate method for detecting genetic linkage, with application to a pedigree with an adverse lipoprotein phenotype. Am J Hum Genet 1990, 47(2):247-254. 1683708, 2378349.
2. Almasy L, Dyer TD, Blangero J. Bivariate quantitative trait linkage analysis: pleiotropy versus co-incident linkages. Genet Epidemiol 1997, 14(6):953-958. 10.1002/(SICI)1098-2272(1997)14:6<953::AID-GEPI65>3.0.CO;2-K, 9433606.
3. Williams JT, Van Eerdewegh P, Almasy L, Blangero J. Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. I. Likelihood formulation and simulation results. Am J Hum Genet 1999, 65(4):1134-1147. 10.1086/302570, 1288247, 10486333.
4. Jiang C, Zeng ZB. Multiple trait analysis of genetic mapping for quantitative trait loci. Genetics 1995, 140(3):1111-1127. 1206666, 7672582.
5. Liu J, Pei Y, Papasian CJ, Deng HW. Bivariate association analyses for the mixture of continuous and binary traits with the use of extended generalized estimating equations. Genet Epidemiol 2009, 33(3):217-227. 10.1002/gepi.20372, 2745071, 18924135.
6. Lange C, Silverman EK, Xu X, Weiss ST, Laird NM. A multivariate family-based association test using generalized estimating equations: FBAT-GEE. Biostatistics 2003, 4(2):195-206. 10.1093/biostatistics/4.2.195, 12925516.
7. Ferreira MA, Purcell SM. A multivariate test of association. Bioinformatics 2009, 25(1):132-133. 10.1093/bioinformatics/btn563, 19019849.
8. Ridker PM, Hennekens CH, Buring JE, Rifai N. C-reactive protein and other markers of inflammation in the prediction of cardiovascular disease in women. N Engl J Med 2000, 342(12):836-843. 10.1056/NEJM200003233421202, 10733371.
9. Nakanishi N, Nishina K, Li W, Sato M, Suzuki K, Tatara K. Serum gamma-glutamyltransferase and development of impaired fasting glucose or type 2 diabetes in middle-aged Japanese men. J Intern Med 2003, 254(3):287-295. 10.1046/j.1365-2796.2003.01198.x, 12930239.
10. Cutrin JC, Zingaro B, Camandola S, Boveris A, Pompella A, Poli G. Contribution of gamma glutamyl transpeptidase to oxidative damage of ischemic rat kidney. Kidney Int 2000, 57(2):526-533. 10.1046/j.1523-1755.2000.00871.x, 10652029.
11. Lee DH, Silventoinen K, Hu G, Jacobs DR, Jousilahti P, Sundvall J, Tuomilehto J. Serum gamma-glutamyltransferase predicts non-fatal myocardial infarction and fatal coronary heart disease among 28,838 middle-aged men and women. Eur Heart J 2006, 27(18):2170-2176. 10.1093/eurheartj/ehl086, 16772340.
12. Calderon-Margalit R, Adler B, Abramson JH, Gofin J, Kark JD. Butyrylcholinesterase activity, cardiovascular risk factors, and mortality in middle-aged and elderly men and women in Jerusalem. Clin Chem 2006, 52(5):845-852. 10.1373/clinchem.2005.059857, 16527886.
13. Iwasaki T, Yoneda M, Nakajima A, Terauchi Y. Serum butyrylcholinesterase is strongly associated with adiposity, the serum lipid profile and insulin resistance. Intern Med 2007, 46(19):1633-1639. 10.2169/internalmedicine.46.0049, 17917325.
14. Milman N, Kirchhoff M. Relationship between serum ferritin and risk factors for ischaemic heart disease in 2235 Danes aged 30-60 years. J Intern Med 1999, 245(5):423-433. 10.1046/j.1365-2796.1999.00465.x, 10363742.
15. Tomita M, Mizuno S, Yamanaka H, Hosoda Y, Sakuma K, Matuoka Y, Odaka M, Yamaguchi M, Yosida H, Morisawa H, et al. Does hyperuricemia affect mortality? A prospective cohort study of Japanese male workers. J Epidemiol 2000, 10(6):403-409.
16. Liese AD, Hense HW, Lowel H, Doring A, Tietze M, Keil U. Association of serum uric acid with all-cause and cardiovascular disease mortality and incident myocardial infarction in the MONICA Augsburg cohort. World Health Organization Monitoring Trends and Determinants in Cardiovascular Diseases. Epidemiology 1999, 10(4):391-397. 10.1097/00001648-199907000-00009, 10401873.
17. Whitfield JB, Zhu G, Nestler JE, Heath AC, Martin NG. Genetic covariation between serum gamma-glutamyltransferase activity and cardiovascular risk factors. Clin Chem 2002, 48(9):1426-1431.
18. Whitfield JB. Gamma glutamyl transferase. Crit Rev Clin Lab Sci 2001, 38(4):263-355. 10.1080/20014091084227, 11563810.
19. Arndt V, Brenner H, Rothenbacher D, Zschenderlein B, Fraisse E, Fliedner TM. Elevated liver enzyme activity in construction workers: prevalence and impact on early retirement and all-cause mortality. Int Arch Occup Environ Health 1998, 71(6):405-412. 10.1007/s004200050299, 9766914.
20. Beekman M, Heijmans BT, Martin NG, Pedersen NL, Whitfield JB, DeFaire U, van Baal GC, Snieder H, Vogler GP, Slagboom PE, et al. Heritabilities of apolipoprotein and lipid levels in three countries. Twin Res 2002, 5(2):87-97. 10.1375/1369052022956, 11931686.
21. Friedlander Y, Kark JD, Stein Y. Family resemblance for serum uric acid in a Jerusalem sample of families. Hum Genet 1988, 79(1):58-63. 10.1007/BF00291711, 3366463.
22. Whitfield JB, Martin NG. Plasma lipids in twins. Environmental and genetic influences. Atherosclerosis 1983, 48(3):265-277. 10.1016/0021-9150(83)90044-8, 6685521.
23. Kalousdian S, Fabsitz R, Havlik R, Christian J, Rosenman R. Heritability of clinical chemistries in an older twin cohort: the NHLBI Twin Study. Genet Epidemiol 1987, 4(1):1-11. 10.1002/gepi.1370040102, 3569874.
24. Bathum L, Petersen HC, Rosholm JU, Hyltoft Petersen P, Vaupel J, Christensen K. Evidence for a substantial genetic influence on biochemical liver function tests: results from a population-based Danish twin study. Clin Chem 2001, 47(1):81-87.
25. Valle A, O'Connor DT, Taylor P, Zhu G, Montgomery GW, Slagboom PE, Martin NG, Whitfield JB. Butyrylcholinesterase: association with the metabolic syndrome and identification of 2 gene loci affecting activity. Clin Chem 2006, 52(6):1014-1020. 10.1373/clinchem.2005.065052, 16574762.
26. Njajou OT, Alizadeh BZ, Aulchenko Y, Zillikens MC, Pols HA, Oostra BA, Swinkels DW, van Duijn CM. Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study. Hum Hered 2006, 61(4):222-228. 10.1159/000094777, 16877869.
27. Su S, Snieder H, Miller AH, Ritchie J, Bremner JD, Goldberg J, Dai J, Jones L, Murrah NV, Zhao J, et al. Genetic and environmental influences on systemic markers of inflammation in middle-aged male twins. Atherosclerosis 2008, 200(1):213-220. 10.1016/j.atherosclerosis.2007.12.009, 2599923, 18243214.
28. Lange LA, Burdon K, Langefeld CD, Liu Y, Beck SR, Rich SS, Freedman BI, Brosnihan KB, Herrington DM, Wagenknecht LE, et al. Heritability and expression of C-reactive protein in type 2 diabetes in the Diabetes Heart Study. Ann Hum Genet 2006, 70(Pt 6):717-725.
29. Zhu G, Duffy DL, Eldridge A, Grace M, Mayne C, O'Gorman L, Aitken JF, Neale MC, Hayward NK, Green AC, et al. A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. Am J Hum Genet 1999, 65(2):483-492. 10.1086/302494, 1377947, 10417291.
30. Wright M, De Geus E, Ando J, Luciano M, Posthuma D, Ono Y, Hansell N, Van Baal C, Hiraishi K, Hasegawa T, et al. Genetics of cognition: outline of a collaborative twin study. Twin Res 2001, 4(1):48-56. 10.1375/1369052012146, 11665325.
31. McGregor B, Pfitzner J, Zhu G, Grace M, Eldridge A, Pearson J, Mayne C, Aitken JF, Green AC, Martin NG. Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins. Genet Epidemiol 1999, 16(1):40-53. 10.1002/(SICI)1098-2272(1999)16:1<40::AID-GEPI4>3.0.CO;2-1, 9915566.
32. Wright MJ, Martin NG. Brisbane Adolescent Twin Study: Outline of study methods and research projects. Australian Journal of Psychology 2004, 56(2):65-78.
33. Middelberg RP, Martin NG, Whitfield JB. A longitudinal genetic study of plasma lipids in adolescent twins. Twin Res Hum Genet 2007, 10(1):127-135. 10.1375/twin.10.1.127, 17539372.
34. Heath AC, Whitfield JB, Martin NG, Pergadia ML, Goate AM, Lind PA, McEvoy BP, Schrage AJ, Grant JD, Chou YL, et al. A Quantitative-Trait Genome-Wide Association Study of Alcoholism Risk in the Community: Findings and Implications. Biol Psychiatry 2011, Epub April 27.
35. Sullivan PF, de Geus EJ, Willemsen G, James MR, Smit JH, Zandbelt T, Arolt V, Baune BT, Blackwood D, Cichon S, et al. Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. Mol Psychiatry 2009, 14(4):359-375. 10.1038/mp.2008.125, 2717726, 19065144.
36. Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J, Lee SH, Lambert A, Zhao ZZ, Roseman F, Guo Q, et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet 2011, 43(1):51-54. 10.1038/ng.731, 3019124, 21151130.
37. Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, et al. Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet 2009, 85(5):750-755. 10.1016/j.ajhg.2009.10.009, 2775823, 19896111.
38. Ellinghaus D, Schreiber S, Franke A, Nothnagel M. Current software for genotype imputation. Hum Genomics 2009, 3(4):371-380.
39. Marchini J, Howie B. Genotype imputation for genome-wide association studies. Nat Rev Genet 2010, 11(7):499-511. 10.1038/nrg2796, 20517342.
40. Nothnagel M, Ellinghaus D, Schreiber S, Krawczak M, Franke A. A comprehensive evaluation of SNP genotype imputation. Hum Genet 2009, 125(2):163-171. 10.1007/s00439-008-0606-5, 19089453.
41. StataCorp Stata Statistical Software: Release 7.0. 1997, College Station, Tex: StataCorp, StataCorp.
42. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30(1):97-101. 10.1038/ng786, 11731797.
43. Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, et al. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 2009, 41(1):47-55. 10.1038/ng.269, 2687074, 19060911.
44. Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, et al. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am J Hum Genet 2009, 85(5):628-642. 10.1016/j.ajhg.2009.10.014, 2775832, 19913121.
45. Ma L, Yang J, Runesha HB, Tanaka T, Ferrucci L, Bandinelli S, Da Y. Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. BMC Med Genet 2010, 11:55. 2867786, 20370913.
46. Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, et al. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet 2008, 83(4):520-528. 10.1016/j.ajhg.2008.09.012, 2561937, 18940312.
47. Ronald J, Rajagopalan R, Ranchalis JE, Marshall JK, Hatsukami TS, Heagerty PJ, Jarvik GP. Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Lipids Health Dis 2009, 8:52. 10.1186/1476-511X-8-52, 2794863, 19951432.
48. Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, et al. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet 2008, 82(5):1193-1201. 10.1016/j.ajhg.2008.03.017, 2427318, 18439552.
49. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010, 466(7307):707-713. 10.1038/nature09270, 3039276, 20686565.
50. Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988, 240(4852):622-630. 10.1126/science.3283935, 3283935.
51. Eichner JE, Dunn ST, Perveen G, Thompson DM, Stewart KE, Stroehla BC. Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review. Am J Epidemiol 2002, 155(6):487-495. 10.1093/aje/155.6.487, 11882522.
52. Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 2008, 40(2):189-197. 10.1038/ng.75, 2682493, 18193044.
53. Odom DT, Zizlsperger N, Gordon DB, Bell GW, Rinaldi NJ, Murray HL, Volkert TL, Schreiber J, Rolfe PA, Gifford DK, et al. Control of pancreas and liver gene expression by HNF transcription factors. Science 2004, 303(5662):1378-1381. 10.1126/science.1089769, 3012624, 14988562.
54. Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010, 42(7):579-589. 10.1038/ng.609, 3080658, 20581827.
55. Okada Y, Takahashi A, Ohmiya H, Kumasaka N, Kamatani Y, Hosono N, Tsunoda T, Matsuda K, Tanaka T, Kubo M, et al. Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus. Hum Mol Genet 2011, 20(6):1224-1231. 10.1093/hmg/ddq551, 21196492.
56. Elliott P, Chambers JC, Zhang W, Clarke R, Hopewell JC, Peden JF, Erdmann J, Braund P, Engert JC, Bennett D, et al. Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. Jama 2009, 302(1):37-48. 10.1001/jama.2009.954, 2803020, 19567438.
57. Dehghan A, Dupuis J, Barbalic M, Bis JC, Eiriksdottir G, Lu C, Pellikka N, Wallaschofski H, Kettunen J, Henneman P, et al. Meta-Analysis of Genome-Wide Association Studies in > 80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels. Circulation 2011, 731-738.
58. Erdmann J, Grosshennig A, Braund PS, Konig IR, Hengstenberg C, Hall AS, Linsel-Nitschke P, Kathiresan S, Wright B, Tregouet DA, et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet 2009, 41(3):280-282. 10.1038/ng.307, 2695543, 19198612.
59. Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JH, Song K, Yuan X, Johnson T, Ashford S, et al. LDL-cholesterol concentrations: a genome-wide association study. Lancet 2008, 371(9611):483-491. 10.1016/S0140-6736(08)60208-1, 2292820, 18262040.
60. Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 2008, 40(2):161-169. 10.1038/ng.76, 18193043.
61. Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH, Ripatti S, Aulchenko YS, Zhang W, Yuan X, Lim N, et al. Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease. Arterioscler Thromb Vasc Biol 2010, 30(11):2264-2276. 10.1161/ATVBAHA.109.201020, 20864672.