Understanding cardiovascular disease through the lens of genome-wide association studies

Zheng, 2002, State-Specific Mortality from Sudden Cardiac Death – United States, 1999, Mortality and Morbidity Weekly Report, 51, 123 Collins, 1997, Variations on a theme: cataloging human DNA sequence variation, Science, 278, 1580, 10.1126/science.278.5343.1580 Lander, 1996, The new genomics: global views of biology, Science, 274, 536, 10.1126/science.274.5287.536 Risch, 1996, The future of genetic studies of complex human diseases, Science, 273, 1516, 10.1126/science.273.5281.1516 Lander, 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062 Venter, 2001, The sequence of the human genome, Science, 291, 1304, 10.1126/science.1058040 The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437, 1299–1320 Frazer, 2007, A second generation human haplotype map of over 3, 1 million SNPs. Nature, 449, 851, 10.1038/nature06258 de Bakker, 2006, Transferability of tag SNPs in genetic association studies in multiple populations, Nat. Genet., 38, 1298, 10.1038/ng1899 Aulchenko, 2007, GenABEL: an R library for genome-wide association analysis, Bioinformatics, 23, 294, 10.1093/bioinformatics/btm108 Purcell, 2007, PLINK: a tool set for whole-genome association and population-based linkage analyses, Am. J. Hum. Genet., 81, 559, 10.1086/519795 Pe’er, 2008, Estimation of the multiple testing burden for genomewide association studies of nearly all common variants, Genet. Epidemiol., 32, 381, 10.1002/gepi.20303 Ozaki, 2002, Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction, Nat. Genet., 32, 650, 10.1038/ng1047 Bazzoni, 1996, The tumor necrosis factor ligand and receptor families, N. Engl. J. Med., 334, 1717, 10.1056/NEJM199606273342607 Ozaki, 2004, Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-alpha secretion in vitro, Nature, 429, 72, 10.1038/nature02502 Ozaki, 2009, SNPs in BRAP associated with risk of myocardial infarction in Asian populations, Nat. Genet., 41, 329, 10.1038/ng.326 Clarke, 2006, Lymphotoxin-alpha gene and risk of myocardial infarction in 6,928 cases and 2,712 controls in the ISIS case-control study, PLoS Genet, 2, e107, 10.1371/journal.pgen.0020107 Iwanaga, 2004, Association analysis between polymorphisms of the lymphotoxin-alpha gene and myocardial infarction in a Japanese population, Atherosclerosis, 172, 197, 10.1016/j.atherosclerosis.2003.09.026 Kimura, 2007, Lack of association between LTA and LGALS2 polymorphisms and myocardial infarction in Japanese and Korean populations, Tissue Antigens, 69, 265, 10.1111/j.1399-0039.2006.00798.x Koch, 2007, Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans, Hum. Mol. Genet., 16, 1821, 10.1093/hmg/ddm130 PROCARDIS Consortium (2004) A trio family study showing association of the lymphotoxin-alpha N26 (804A) allele with coronary artery disease.Eur. J. Hum. Genet. 12, 770–774 Sedlacek, 2007, Lymphotoxin-alpha and galectin-2 SNPs are not associated with myocardial infarction in two different German populations, J. Mol. Med., 85, 997, 10.1007/s00109-007-0211-4 Yamada, 2004, Lack of association of polymorphisms of the lymphotoxin alpha gene with myocardial infarction in Japanese, J. Mol. Med., 82, 477, 10.1007/s00109-004-0556-x The Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 447, 661–678 Helgadottir, 2007, A common variant on chromosome 9p21 affects the risk of myocardial infarction, Science, 316, 1491, 10.1126/science.1142842 McPherson, 2007, A common allele on chromosome 9 associated with coronary heart disease, Science, 316, 1488, 10.1126/science.1142447 Saxena, 2007, Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels, Science, 316, 1331, 10.1126/science.1142358 Scott, 2007, A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants, Science, 316, 1341, 10.1126/science.1142382 Zeggini, 2007, Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes, Science, 316, 1336, 10.1126/science.1142364 Helgadottir, 2008, The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm, Nat. Genet., 40, 217, 10.1038/ng.72 Samani, 2007, Genomewide association analysis of coronary artery disease, N. Engl. J. Med., 357, 443, 10.1056/NEJMoa072366 Kathiresan, 2009, Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants, Nat. Genet., 41, 334, 10.1038/ng.327 Kathiresan, 2008, Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans, Nat. Genet., 40, 189, 10.1038/ng.75 Willer, 2008, Newly identified loci that influence lipid concentrations and risk of coronary artery disease, Nat. Genet., 40, 161, 10.1038/ng.76 Erdmann, 2009, New susceptibility locus for coronary artery disease on chromosome 3q22, 3. Nat. Genet., 41, 280, 10.1038/ng.307 Tregouet, 2009, Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease, Nat. Genet., 41, 283, 10.1038/ng.314 Gretarsdottir, 2008, Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke, Ann. Neurol., 64, 402, 10.1002/ana.21480 Gudbjartsson, 2007, Variants conferring risk of atrial fibrillation on chromosome 4q25, Nature, 448, 353, 10.1038/nature06007 Lip, 2007, Atrial fibrillation and stroke prevention, Lancet Neurol., 6, 981, 10.1016/S1474-4422(07)70264-8 Bilguvar, 2008, Susceptibility loci for intracranial aneurysm in European and Japanese populations, Nat. Genet., 40, 1472, 10.1038/ng.240 Ikram, 2009, Genomewide association studies of stroke, N. Engl. J. Med., 360, 1718, 10.1056/NEJMoa0900094 Kathiresan, 2009, Common variants at 30 loci contribute to polygenic dyslipidemia, Nat. Genet., 41, 56, 10.1038/ng.291 Pfeufer, 2009, Common variants at ten loci modulate the QT interval duration in the QTSCD Study, Nat. Genet., 41, 407, 10.1038/ng.362 Sakamoto, 2007, Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos, Biochem. Biophys. Res. Commun., 360, 539, 10.1016/j.bbrc.2007.06.093 Aulchenko, 2009, Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts, Nat. Genet., 41, 47, 10.1038/ng.269 Sandhu, 2008, LDL-cholesterol concentrations: a genome-wide association study, Lancet, 371, 483, 10.1016/S0140-6736(08)60208-1 Wallace, 2008, Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia, Am. J. Hum. Genet., 82, 139, 10.1016/j.ajhg.2007.11.001 de Bakker, 2005, Efficiency and power in genetic association studies, Nat. Genet. 37, 1217, 10.1038/ng1669 Gorlov, 2008, Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms, Am. J. Hum. Genet., 82, 100, 10.1016/j.ajhg.2007.09.006 Emison, 2005, A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk, Nature, 434, 857, 10.1038/nature03467 McGregor, 2007, Morphological evolution through multiple cis-regulatory mutations at a single gene, Nature, 448, 587, 10.1038/nature05988 Hindorff L.A. et al. (2009) A Catalog of Published Genome-Wide Association Studies. [cited 2009 June 15]; Available from: http://www.genome.gov/gwastudies Keating, 2008, Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies, PLoS One, 3, e3583, 10.1371/journal.pone.0003583 Mardis, 2008, The impact of next-generation sequencing technology on genetics, Trends Genet., 24, 133, 10.1016/j.tig.2007.12.007 Allender, S.S. et al. (2008) European cardiovascular disease statistics 2008 edition, European Heart Network: Brussels, Belgium American Heart Association (2008) Heart Disease and Stroke Statistics – 2008 Update American Heart Association: Dallas, Texas World Health Organization (2003) The World Health Report: 2003: shaping the future, World Health Organization: Geneva