Genetic architecture of circulating lipid levels

European Journal of Human Genetics

Volumn 19, Issue 7, 2011, Pages 813-819

  Demirkan, Aye ^a   Amin, Najaf ^a   Isaacs, Aaron ^a,b   Jarvelin, Marjo Riitta ^c   Whitfield, John B ^d   Wichmann, Heinz Erich ^e   Kyvik, Kirsten Ohm ^f   Rudan, Igor ^g   Gieger, Christian ^e   Hicks, Andrew A ^h   Johansson, Åsa ⁱ   Hottenga, Jouke Jan ^j   Smith, Johannes J ^k   Wild, Sarah H ^g   Pedersen, Nancy L ^l   Willemsen, Gonneke ^j   Mangino, Massimo ^m   Hayward, Caroline ⁿ   Uitterlinden, André G ^a,o   Hofman, Albert ^a,o   Witteman, Jacqueline ^a,o   Montgomery, Grant W ^d   Pietiläinen, Kirsi H ^p   Rantanen, Taina ^q   Kaprio, Jaakko ^r,s,t   Döring, Angela ^e   Pramstaller, Peter P ^h,u,v   Gyllensten, Ulf ⁱ   De Geus, Eco J C ^j   Penninx, Brenda W ^k   Wilson, James F ^g   Rivadeneria, Fernando ^a,o   Magnusson, Patrik K E ^l   Boomsma, Dorret I ^j   Spector, Tim ^m   Campbell, Harry ^g   Hoehne, Birgit ^e   Martin, Nicholas G ^d   Oostra, Ben A ^a,b   McCarthy, Mark ^w,x   Peltonen Palotie, Leena ^s,t,y,z   Aulchenko, Yurii ^a   Visscher, Peter M ^d   Ripatti, Samuli ^s,t   Janssens, A Cecile J W ^a   Van Duijn, Cornelia M ^a,b,o   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Centre for Medical Systems Biology   (Netherlands)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^g UNIVERSITY OF EDINBURGH   (United Kingdom)

^h INSTITUTE FOR RENEWABLE ENERGY   (Italy)

ⁱ UPPSALA UNIVERSITY   (Sweden)

^j VU UNIVERSITY AMSTERDAM   (Netherlands)

^k VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^l KAROLINSKA INSTITUTE   (Sweden)

^m KING'S COLLEGE LONDON   (United Kingdom)

ⁿ WESTERN GENERAL HOSPITAL   (United Kingdom)

^o Netherlands Genomics Initiative   (Netherlands)

^p HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^q UNIVERSITY OF JYVÄSKYLÄ   (Finland)

^r UNIVERSITY OF HELSINKI   (Finland)

^s NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^t FIMM   (Finland)

^u General Central Hospital   (Italy)

^v UNIVERSITY OF LÜBECK   (Germany)

^w UNIVERSITY OF OXFORD   (United Kingdom)

^x UNIVERSITY OF OXFORD   (United Kingdom)

^y MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^z WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

genome wide association; pathway analysis; polygenic; polygenic score; serum lipids

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ARTICLE; CHOLESTEROL BLOOD LEVEL; COMPUTER PROGRAM; CONTROLLED STUDY; CROSS PREDICTION MODEL; FEMALE; GENE LOCUS; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HERITABILITY; HUMAN; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; META ANALYSIS (TOPIC); MODEL; MULTIFACTORIAL INHERITANCE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SCORING SYSTEM; SEX RATIO; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LIPID METABOLISM; LIPIDS; MALE; METABOLIC NETWORKS AND PATHWAYS; MODELS, GENETIC; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; RISK;

EID: 79959224713     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.21     Document Type: Article

References (33)

1. Isaacs A, Sayed-Tabatabaei FA, Aulchenko YS et al: Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: the Erasmus Rucphen Family Study. Eur J Epidemiol 2007; 22: 99-105. (Pubitemid 46457307)
2. Kannel WB, Dawber TR, Kagan A, Revotskie N, Stokes III J: Factors of risk in the development of coronary heart disease-six year follow-up experience. The Framingham Study. Ann Intern Med 1961; 55: 33-50.
3. Kuulasmaa K, Tunstall-Pedoe H, Dobson A et al: Estimation of contribution of changes in classic risk factors to trends in coronary-event rates across the WHO MONICA Project populations. Lancet 2000; 355: 675-687. (Pubitemid 30107623)
4. Namboodiri KK, Green PP, Kaplan EB et al: The Collaborative Lipid Research Clinics Program Family Study. IV. Familial associations of plasma lipids and lipoproteins. Am J Epidemiol 1984; 119: 975-996. (Pubitemid 14124214)
5. 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; 41: 47-55.
6. Kathiresan S, Melander O, Guiducci C et al: Six new loci associated with blood lowdensity lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 2008; 40: 189-197. (Pubitemid 351171402)
7. Kathiresan S, Willer CJ, Peloso GM et al: Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 2009; 41: 56-65.
8. Kooner JS, Chambers JC, Aguilar-Salinas CA et al: Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat Genet 2008; 40: 149-151. (Pubitemid 351171393)
9. 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; 41: 35-46.
10. Sandhu MS, Waterworth DM, Debenham SL et al: LDL-cholesterol concentrations: a genome-wide association study. Lancet 2008; 371: 483-491. (Pubitemid 351199866)
11. 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; 82: 139-149. (Pubitemid 351735954)
12. Willer CJ, Sanna S, Jackson AU et al: Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 2008; 40: 161-169. (Pubitemid 351171403)
13. Hegele RA: Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet 2009; 10: 109-121.
14. Manolio TA, Collins FS, Cox NJ et al: Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
15. Teslovich TM, Musunuru K, Smith AV et al: Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466: 707-713.
16. Visscher PM: Sizing up human height variation. Nat Genet 2008; 40: 489-490. (Pubitemid 351601227)
17. Demirkan A, Penninx BWJH, Hek K et al: Genetic risk profiles for depression and anxiety in adult and elderly cohorts. Mol Psychiatry; e-pub ahead of print 22 June 2010.
18. International Schizophrenia Consortium, Purcell SM, Wray NR et al: Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748-752.
19. Amin N, van Duijn CM, Janssens AC: Genetic scoring analysis: a way forward in genome wide association studies? Eur J Epidemiol 2009; 24: 585-587.
20. Hofman A, Breteler MM, van Duijn CM et al: The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol 2009; 24: 553-572.
21. Friedewald WT, Levy RI, Fredrickson DS: Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972; 18: 499-502.
22. Purcell S, Neale B, Todd-Brown K et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575. (Pubitemid 47330214)
23. Thomas PD, Kejariwal A, Campbell MJ et al: PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res 2003; 31: 334-341. (Pubitemid 36150398)
24. Teslovich TM, Musunuru K, Smith AV et al: Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466: 707-713.
25. Rader DJ, Cohen J, Hobbs HH: Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 2003; 111: 1795-1803. (Pubitemid 38057721)
26. Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH: Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004; 305: 869-872. (Pubitemid 39038422)
27. Cohen JC, Pertsemlidis A, Fahmi S et al: Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci USA 2006; 103: 1810-1815. (Pubitemid 43228775)
28. Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P: Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exons and 6. Ann Genet 2001; 44: 25-32. (Pubitemid 32435636)
29. Kotowski IK, Pertsemlidis A, Luke A et al: A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet 2006; 78: 410-422. (Pubitemid 43291224)
30. Simha V, Garg A: Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol 2009; 20: 300-308.
31. Slatter TL, Jones GT, Williams MJ, van Rij AM, McCormick SP: Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels. Clin Genet 2008; 73: 179-184.
32. Talmud PJ: Rare APOA5 mutations-clinical consequences, metabolic and functional effects: an ENID review. Atherosclerosis 2007; 194: 287-292. (Pubitemid 47513112)
33. Genest Jr JJ, Martin-Munley SS, McNamara JR et al: Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 1992; 85: 2025-2033.