The genetics of cardiovascular disease

Trends in Endocrinology & Metabolism - Tập 19 - Trang 309-316 - 2008
Christian Delles1, Martin W. McBride1, Sandosh Padmanabhan1, Anna F. Dominiczak1
1BHF Glasgow Cardiovascular Research Centre, Faculty of Medicine, University of Glasgow, 126 University Place, Glasgow, G12 8TA, UK

Tài liệu tham khảo

Padmanabhan, 2008, Hypertension and genome-wide association studies: combining high fidelity phenotyping and hypercontrols, J. Hypertens., 26, 1275, 10.1097/HJH.0b013e3282ff634f Dominiczak, 2005, Corcoran Lecture. Cardiovascular genomics and oxidative stress, Hypertension, 45, 636, 10.1161/01.HYP.0000154253.53134.09 Matsuzaki, 2004, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays, Nat. Methods, 1, 109, 10.1038/nmeth718 Gunderson, 2005, A genome-wide scalable SNP genotyping assay using microarray technology, Nat. Genet., 37, 549, 10.1038/ng1547 2007, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls, Nature, 447, 661, 10.1038/nature05911 Samani, 2007, Genome-wide association analysis of coronary artery disease, N. Engl. J. Med., 357, 443, 10.1056/NEJMoa072366 Sandhu, 2008, LDL-cholesterol concentrations: a genome-wide association study, Lancet, 371, 483, 10.1016/S0140-6736(08)60208-1 Levy, 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness, BMC Med. Genet., 8, S3, 10.1186/1471-2350-8-S1-S3 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 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 Diabetes Genetics Initiative of Broad Institute of Harvard and MIT et al. (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 316, 1331–1336 Caulfield, 2003, Genome-wide mapping of human loci for essential hypertension, Lancet, 361, 2118, 10.1016/S0140-6736(03)13722-1 Bowcock, 2007, Genomics: guilt by association, Nature, 447, 645, 10.1038/447645a McCarthy, 2008, Genome-wide association studies for complex traits: consensus, uncertainty and challenges, Nat. Rev. Genet., 9, 356, 10.1038/nrg2344 Chen, 2008, Variations in DNA elucidate molecular networks that cause disease, Nature, 452, 429, 10.1038/nature06757 Emilsson, 2008, Genetics of gene expression and its effect on disease, Nature, 452, 423, 10.1038/nature06758 Rapp, 2000, Genetic analysis of inherited hypertension in the rat, Physiol. Rev., 80, 135, 10.1152/physrev.2000.80.1.135 Cowley, 2004, Application of chromosomal substitution techniques in gene-function discovery, J. Physiol., 554, 46, 10.1113/jphysiol.2003.052613 2004, Genome sequence of the Brown Norway rat yields insights into mammalian evolution, Nature, 428, 493, 10.1038/nature02426 Hunt, 2004, The visual language of synteny, OMICS, 8, 289, 10.1089/omi.2004.8.289 Jakubowska, 2007, VisGenome: visualization of single and comparative genome representations, Bioinformatics, 23, 2641, 10.1093/bioinformatics/btm394 Mueller, 2006, eQTL Explorer: integrated mining of combined genetic linkage and expression experiments, Bioinformatics, 22, 509, 10.1093/bioinformatics/btk007 Aitman, 2008, Progress and prospects in rat genetics: a community view, Nat. Genet., 40, 516, 10.1038/ng.147 Dominiczak, 1996, Vascular smooth muscle polyploidy and cardiac hypertrophy in genetic hypertension, Hypertension, 27, 752, 10.1161/01.HYP.27.3.752 Conrad, 1991, Impaired myocardial function in spontaneously hypertensive rats with heart failure, Am. J. Physiol., 260, H136 Jeffs, 1997, Sensitivity to cerebral ischaemic insult in a rat model of stroke is determined by a single genetic locus, Nat. Genet., 16, 364, 10.1038/ng0897-364 Grunfeld, 1995, Role of superoxide in the depressed nitric oxide production by the endothelium of genetically hypertensive rats, Hypertension, 26, 854, 10.1161/01.HYP.26.6.854 Kerr, 1999, Superoxide anion production is increased in a model of genetic hypertension: the role of endothelial nitric oxide synthase and superoxide dismutase isoforms, Hypertension, 33, 1353, 10.1161/01.HYP.33.6.1353 Hamilton, 2001, Superoxide excess in hypertension and ageing: a common cause of endothelial dysfunction, Hypertension, 37, 529, 10.1161/01.HYP.37.2.529 Clark, 1996, Quantitative trait loci in genetically hypertensive rats, Hypertension, 28, 898, 10.1161/01.HYP.28.5.898 Jeffs, 2000, Applicability of a “speed” congenic strategy to dissect blood pressure quantitative trait loci on rat chromosome 2, Hypertension, 35, 179, 10.1161/01.HYP.35.1.179 Dutil, 2001, Further chromosomal mapping of a blood pressure QTL in Dahl rats on chromosome 2 using congenic strains, Physiol. Genomics, 6, 3, 10.1152/physiolgenomics.2001.6.1.3 Garrett, 2002, Multiple blood pressure QTL on rat chromosome 2 defined by congenic Dahl rats, Mamm. Genome, 13, 41, 10.1007/s00335-001-2114-y McBride, 2003, Microarray analysis of rat chromosome 2 congenic strains, Hypertension, 41, 847, 10.1161/01.HYP.0000047103.07205.03 McBride, 2005, Reduction of Gstm1 expression in the stroke-prone spontaneously hypertension rat contributes to increased oxidative stress, Hypertension, 45, 786, 10.1161/01.HYP.0000154879.49245.39 Graham, 2007, Candidate genes that determine response to salt in the stroke-prone spontaneously hypertensive rat: congenic analysis, Hypertension, 50, 1134, 10.1161/HYPERTENSIONAHA.107.095349 Petretto, 2008, Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass, Nat. Genet., 40, 546, 10.1038/ng.134 Monti, 2008, Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease, Nat. Genet., 40, 529, 10.1038/ng.129 Iwai, 2004, Genetic analysis of 22 candidate genes for hypertension in the Japanese population, J. Hypertens., 22, 1119, 10.1097/00004872-200406000-00012 Abu-Amero, 2006, T null and M null genotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking, BMC Med. Genet., 7, 38, 10.1186/1471-2350-7-38 Wilson, 2000, Glutathione S-transferase M1 null genotype is associated with a decreased risk of myocardial infarction, FASEB J., 14, 791, 10.1096/fasebj.14.5.791 Delles, 2008, Targeting reactive oxygen species in hypertension, Antioxid. Redox Signal., 10, 1061, 10.1089/ars.2007.2008 Hamilton, 2004, Strategies to reduce oxidative stress in cardiovascular disease, Clin. Sci. (Lond.), 106, 219, 10.1042/CS20030379 Roodi, 2004, Association of homozygous wild-type glutathione S-transferase M1 genotype with increased breast cancer risk, Cancer Res., 64, 1233, 10.1158/0008-5472.CAN-03-2861 Benhamou, 2002, Meta– and pooled analyses of the effects of glutathione S-transferase M1 polymorphisms and smoking on lung cancer risk, Carcinogenesis, 23, 1343, 10.1093/carcin/23.8.1343 NCI-NHGRI Working Group on Replication in Association Studies et al. (2007) Replicating genotype–phenotype associations. Nature 447, 655–660 Delles, 2008, Glutathione S-transferase variants and hypertension, J. Hypertens., 26, 1343, 10.1097/HJH.0b013e3282fe1d67 Tobin, 2008, Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population, Hypertension, 51, 1658, 10.1161/HYPERTENSIONAHA.108.112664 Ji, 2008, Rare independent mutations in renal salt handling genes contribute to blood pressure variation, Nat. Genet., 40, 592, 10.1038/ng.118 Newhouse, 2005, Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study, Hum. Mol. Genet., 14, 1805, 10.1093/hmg/ddi187 Tobin, 2005, Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population, Circulation, 112, 3423, 10.1161/CIRCULATIONAHA.105.555474 Moreno, 2006, The C242T CYBA polymorphism of NADPH oxidase is associated with essential hypertension, J. Hypertens., 24, 1299, 10.1097/01.hjh.0000234110.54110.56 Guzik, 2000, Functional effect of the C242T polymorphism in the NAD(P)H oxidase p22phox gene on vascular superoxide production in atherosclerosis, Circulation, 102, 1744, 10.1161/01.CIR.102.15.1744 Delles, 2008, Vascular stiffness is related to superoxide generation in the vessel wall, J. Hypertens., 26, 946, 10.1097/HJH.0b013e3282f7677c Zalba, 2005, NADPH oxidase-dependent superoxide production is associated with carotid intima-media thickness in subjects free of clinical atherosclerotic disease, Arterioscler. Thromb. Vasc. Biol., 25, 1452, 10.1161/01.ATV.0000168411.72483.08 Sayed-Tabatabaei, 2006, ACE polymorphisms, Circ. Res., 98, 1123, 10.1161/01.RES.0000223145.74217.e7 Staessen, 2005, Adducin and hypertension, Pharmacogenomics, 6, 665, 10.2217/14622416.6.7.665 Teo, 2008, Common statistical issues in genome-wide association studies: a review on power, data quality control, genotype calling and population structure, Curr. Opin. Lipidol., 19, 133, 10.1097/MOL.0b013e3282f5dd77 Harrap, 2003, Where are all the blood-pressure genes?, Lancet, 361, 2149, 10.1016/S0140-6736(03)13694-X Klein, 2005, Complement factor H polymorphism in age-related macular degeneration, Science, 308, 385, 10.1126/science.1109557 Edwards, 2005, Complement factor H polymorphism and age-related macular degeneration, Science, 308, 421, 10.1126/science.1110189 Matarín, 2007, A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release, Lancet Neurol., 6, 414, 10.1016/S1474-4422(07)70081-9 Matarín, 2008, Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21, Stroke, 39, 1586, 10.1161/STROKEAHA.107.502963 Sharma, 2000, The future of genetic association studies in hypertension: improving the signal-to-noise ratio, J. Hypertens., 18, 811, 10.1097/00004872-200018070-00001 Oniki, 2008, Association between glutathione S-transferase A1, M1 and T1 polymorphisms and hypertension, Pharmacogenet. Genomics, 18, 275, 10.1097/FPC.0b013e3282f56176 Cupples, 2008, Family study designs in the age of genome-wide association studies: experience from the Framingham Heart Study, Curr. Opin. Lipidol., 19, 144, 10.1097/MOL.0b013e3282f73746 Pollex, 2007, Copy number variation in the human genome and its implications for cardiovascular disease, Circulation, 115, 3130, 10.1161/CIRCULATIONAHA.106.677591 Latronico, 2007, Emerging role of microRNAs in cardiovascular biology, Circ. Res., 101, 1225, 10.1161/CIRCRESAHA.107.163147 Good, 2007, Body fluid proteomics for biomarker discovery: lessons from the past hold the key to success in the future, J. Proteome Res., 6, 4549, 10.1021/pr070529w Zimmerli, 2008, Urinary proteomic biomarkers in coronary artery disease, Mol. Cell. Proteomics, 7, 290, 10.1074/mcp.M700394-MCP200 Padmanabhan, 2006, Chromosome 2p shows significant linkage to antihypertensive response in the British Genetics of Hypertension Study, Hypertension, 47, 603, 10.1161/01.HYP.0000197947.62601.9d Turner, 2003, Effects of endothelial nitric oxide synthase, α-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide, Am. J. Hypertens., 16, 834, 10.1016/S0895-7061(03)01011-2 Bhatnagar, 2007, Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial, J. Hypertens., 25, 2082, 10.1097/HJH.0b013e3282b9720e