Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease

European Journal of Human Genetics

Volumn 18, Issue 5, 2010, Pages 604-613

  Kangas Kontio, Tiia ^a   Kakko, Sakari ^a   Tamminen, Minna ^a   Von Rohr, Peter ^b   Hoeschele, Ina ^b   Juvonen, Tatu ^a   Kere, Juha ^c   Savolainen, Markku J ^a  

^a UNIVERSITY OF OULU   (Finland)

^b VIRGINIA BIOINFORMATICS INSTITUTE   (United States)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Atherosclerosis; Complex trait; Linkage analysis; Lipoprotein

Indexed keywords

ANTILIPEMIC AGENT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR DELTA; RETINOID X RECEPTOR BETA; TRIACYLGLYCEROL;

ADULT; ARTICLE; ATHEROSCLEROSIS; BLOOD SAMPLING; BODY MASS; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 10P; CHROMOSOME 15Q; CHROMOSOME 22Q; CHROMOSOME 4P; CHROMOSOME 6P; FEMALE; FINLAND; GENE LOCUS; GENETIC ASSOCIATION; GENOME ANALYSIS; GENOTYPE; HUMAN; ISCHEMIC HEART DISEASE; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; QUANTITATIVE TRAIT LOCUS;

AGE OF ONSET; CHOLESTEROL, HDL; CHROMOSOME MAPPING; CORONARY DISEASE; FEMALE; FINLAND; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; QUANTITATIVE TRAIT LOCI; STATISTICS, NONPARAMETRIC;

EID: 77951623527     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.202     Document Type: Article

References (62)

1. Lusis AJ: Atherosclerosis. Nature 2000; 6801: 233-241.
2. Gordon T, Castelli WP, Hjortland MC, Kannel WB, Dawber TR: High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study. Am J Med 1977; 5: 707-714.
3. Genest Jr JJ, Martin-Munley SS, McNamara JR et al: Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 1992; 6: 2025-2033.
4. Wang X, Paigen B: Genetics of variation in HDL cholesterol in humans and mice. Circ Res 2005; 1: 27-42.
5. Kullo IJ, Turner ST, Boerwinkle E, Kardia SL, de AM: A novel quantitative trait locus on chromosome 1 with pleiotropic effects on HDL-cholesterol and LDL particle size in hypertensive sibships. Am J Hypertens 2005; 8: 1084-1090. (Pubitemid 41139907)
6. Arya R, Lehman D, Hunt KJ et al: Evidence for bivariate linkage of obesity and HDL-C levels in the Framingham Heart Study. BMC Genet 2003; S52.
7. Gagnon F, Jarvik GP, Badzioch MD, Motulsky AG, Brunzell JD, Wijsman EM: Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia. Hum Genet 2005; 117: 494-505.
8. Bielinski SJ, Tang W, Pankow JS et al: Genome-wide linkage scans for loci affecting total cholesterol, HDL-C, and triglycerides: the Family Blood Pressure Program. Hum Genet 2006; 3: 371-380.
9. Dastani Z, Quiogue L, Plaisier C et al: Evidence for a gene influencing high-density lipoprotein cholesterol on chromosome 4q31.21. Arterioscler Thromb Vasc Biol 2006; 2: 392-397.
10. Harrap SB, Wong ZY, Scurrah KJ, Lamantia A: Genome-wide linkage analysis of population variation in high-density lipoprotein cholesterol. Hum Genet 2006; 119: 541-546.
11. Peacock JM, Arnett DK, Atwood LD et al: Genome scan for quantitative trait loci linked to high-density lipoprotein cholesterol: the NHLBI Family Heart Study. Arterioscler Thromb Vasc Biol 2001; 11: 1823-1828.
12. Canizales-Quinteros S, uilar-Salinas CA, Reyes-Rodriguez E et al: Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia. Circ Res 2003; 5: 569-576.
13. Yang Q, Lai CQ, Parnell L et al: Genome-wide linkage analyses and candidate gene fine mapping for HDL3 cholesterol: the Framingham Study. J Lipid Res 2005; 7: 1416-1425.
14. Adeyemo AA, Johnson T, Acheampong J et al: A genome wide quantitative trait linkage analysis for serum lipids in type 2 diabetes in an African population. Atherosclerosis 2005; 2: 389-397.
15. Soro A, Pajukanta P, Lilja HE et al: 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; 5: 1333-1340.
16. Almasy L, Hixson JE, Rainwater DL et al: Human pedigree-based quantitative-trait-locus mapping: localization of two genes influencing HDL-cholesterol metabolism. Am J Hum Genet 1999; 6: 1686-1693.
17. Arya R, Duggirala R, Almasy L et al: Linkage of high-density lipoprotein-cholesterol concentrations to a locus on chromosome 9p in Mexican Americans. Nat Genet 2002; 1: 102-105.
18. Lilja HE, Suviolahti E, Soro-Paavonen A et al: Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia. J Lipid Res 2004; 10: 1876-1884.
19. Bosse Y, Chagnon YC, Despres JP et al: Genome-wide linkage scan reveals multiple susceptibility loci influencing lipid and lipoprotein levels in the Quebec family study. J Lipid Res 2004; 3: 419-426.
20. Hsiao CF, Chiu YF, Chiang FT et al: Genome-wide linkage analysis of lipids in nondiabetic Chinese and Japanese from the SAPPHIRe family study. Am J Hypertens 2006; 12: 1270-1277.
21. Feitosa ME, Rice T, Borecki IB et al: Pleiotropic QTL on chromosome 12q23-q24 influences triglyceride and high-density lipoprotein cholesterol levels: the HERITAGE family study. Hum Biol 2006; 3: 317-327.
22. Feitosa MF, Province MA, Heiss G et al: Evidence of QTL on 15q21 for high-density lipoprotein cholesterol: the National Heart, Lung, and Blood Institute Family Heart Study (NHLBI FHS). Atherosclerosis 2007; 1: 232-237.
23. Yu Y, Wyszynski DF, Waterworth DM et al: Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia. J Lipid Res 2005; 10: 2202-2213.
24. Mahaney MC, Almasy L, Rainwater DL et al: A quantitative trait locus on chromosome 16q influences variation in plasma HDL-C levels in Mexican Americans. Arterioscler Thromb Vasc Biol 2003; 2: 339-345.
25. Pajukanta P, Allayee H, Krass KL et al: Combined analysis of genome scans of Dutch and Finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q. Am J Hum Genet 2003; 4: 903-917.
26. Kathiresan S, Willer CJ, Peloso GM et al: Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 2009; 1: 56-65.
27. Willer CJ, Sanna S, Jackson AU et al: Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 2008; 2: 161-169.
28. Aulchenko YS, Ripatti S, Lindqvist I et al: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 2009; 1: 47-55.
29. Kooner JS, Chambers JC, Guilar-Salinas CA et al: Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat Genet 2008; 2: 149-151.
30. Saxena R, Voight BF, Lyssenko V et al: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007; 5829: 1331-1336.
31. Wallace C, Newhouse SJ, Braund P et al: Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet 2008; 1: 139-149.
32. Sabatti C, Service SK, Hartikainen AL et al: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet 2009; 1: 35-46.
33. Sirtori CR, Calabresi L, Franceschini G et al: Cardiovascular status of carriers of the apolipoprotein A-I(Milano) mutant: the Limone sul Garda study. Circulation 2001; 15: 1949-1954.
34. Jansen H, Verhoeven AJ, Weeks L et al: Common C-to-T substitution at position-480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients. Arterioscler Thromb Vasc Biol 1997; 11: 2837-2842.
35. Peltonen L, Jalanko A, Varilo T: Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999; 10: 1913-1923.
36. Jones PH, Davidson MH, Stein EA et al: Comparison of the efficacy and safety of rosuvastatin versus atorvastatin, simvastatin, and pravastatin across doses (STELLAR* Trial). Am J Cardiol 2003; 2: 152-160.
37. Tobin MD, Sheehan NA, Scurrah KJ, Burton PR: Adjusting for treatment effects in studies of quantitative traits: antihypertensive therapy and systolic blood pressure. Stat Med 2005; 19: 2911-2935.
38. Rantala AO, Kauma H, Lilja M, Savolainen MJ, Reunanen A, Kesäniemi YA: Prevalence of the metabolic syndrome in drug-treated hypertensive patients and control subjects. J Intern Med 1999; 2: 163-174.
39. Dib C, Faure S, Fizames C et al: A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996; 6570: 152-154.
40. Kakko S, Kelloniemi J, von Rohr P et al: ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease. Atherosclerosis 2003; 2: 285-290.
41. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: GRR: graphical representation of relationship errors. Bioinformatics 2001; 8: 742-743.
42. O'connell JR, Weeks DE: PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 1: 259-266.
43. Amos CI: Robust variance-components approach for assessing genetic linkage in pedigrees. Am J Hum Genet 1994; 3: 535-543.
44. Almasy L, Blangero J: Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998; 5: 1198-1211.
45. Sobel E, Lange K: Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996; 6: 1323-1337.
46. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 1: 97-101.
47. Terwilliger JD, Goring HH: Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Hum Biol 2000; 1: 63-132.
48. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE: Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 2005; 10: 2556-2557.
49. Lange EM, Lange K: Powerful allele sharing statistics for nonparametric linkage analysis. Hum Hered 2004; 1: 49-58.
50. Lange K, Cantor R, Horvath S et al: Mendel version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 2001; 69 (Suppl): A1886.
51. Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 3: 241-247.
52. Samani NJ, Erdmann J, Hall AS et al: Genomewide association analysis of coronary artery disease. N Engl J Med 2007; 5: 443-453. (Pubitemid 47204873)
53. Pare G, Serre D, Brisson D et al: Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Am J Hum Genet 2007; 4: 673-682.
54. Pajukanta P, Terwilliger JD, Perola M et al: Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. Am J Hum Genet 1999; 5: 1453-1463.
55. Hager J, Dina C, Francke S et al: A genome-wide scan for human obesity genes reveals a major susceptibility locus on chromosome 10. Nat Genet 1998; 3: 304-308.
56. Pollin TI, Hsueh WC, Steinle NI, Snitker S, Shuldiner AR, Mitchell BD: A genome-wide scan of serum lipid levels in the Old Order Amish. Atherosclerosis 2004; 1: 89-96.
57. Oliver Jr WR, Shenk JL, Snaith MR et al: A selective peroxisome proliferator-activated receptor delta agonist promotes reverse cholesterol transport. Proc Natl Acad Sci USA 2001; 9: 5306-5311.
58. Leibowitz MD, Fievet C, Hennuyer N et al: Activation of PPARdelta alters lipid metabolism in db/db mice. FEBS Lett 2000; 3: 333-336.
59. Schwartz K, Lawn RM, Wade DP: ABC1 gene expression and ApoA-I-mediated cholesterol efflux are regulated by LXR. Biochem Biophys Res Commun 2000; 3: 794-802.
60. Pajukanta P, Cargill M, Viitanen L et al: 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; 6: 1481-1493.
61. Varilo T, Peltonen L: Isolates and their potential use in complex gene mapping efforts. Curr Opin Genet Dev 2004; 3: 316-323.
62. Service S, DeYoung J, Karayiorgou M et al: Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 2006; 5: 556-560.