赵圆圆,凃欣

• 1:华中科技大学生命科学与技术学院
• 2:华中科技大学人类基因组研究中心

摘要(Abstract)：

<正>冠状动脉疾病(coronary artery disease,CAD)是一类由遗传、环境因素及其之间的相互作用引起的多基因疾病,其发生具有一定的家族聚集性和遗传倾向。遗传易感性是引起CAD发生的重要因素之一,发现CAD致病或易感基因、研究其功能及在疾病发生中的作用,是揭示CAD发病机制、特定病理生理过程的关键所在。近年来,应用连锁分析和候选基因关联分析已发现了如MEF2A、LRP6、LDLR等多个CAD致病

关键词(KeyWords)：

Abstract:

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基金项目(Foundation): 国家自然科学基金面上项目(81070106)

作者(Author): 赵圆圆,凃欣

参考文献(References)：

• [1]Helgadottir A,Thorleifsson G,Manolescu A,et al.A common variant onchromosome 9p21 affects the risk of myocardial infarction[J].Science,2007,316(5830):1491-1493.
• [2]McPherson R,Pertsemlidis A,Kavaslar N,et al.A common allele on Chromosome 9 associated with coronary heart disease[J].Science,2007,316(5830):1488-1491.
• [3]Samani NJ,Erdmann J,Hall AS,et al.Genomewide association analysis of coronary artery disease[J].N Engl J Med,2007,357(5):443-453.
• [4]Myocardial Infarction Genetics Consortium,Kathiresan S,Voight BF,et al.Genome-wide association of early-onset myocardial infarctionwith single nucleotide polymorphisms and copy number variants[J].Nat Genet,2009,41(3):334-341.
• [5]Soranzo N,Spector TD,Mangino M,et al.A genomewide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium[J].Nat Genet,2009,41(11):1182-1190.
• [6]Erdmann J,Willenborg C,Nahrstaedt J,et al.Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23[J].Eur Heart J,2011,32(2):158-168.
• [7]Wang F,Xu CQ,He Q,et al.Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population[J].Nat Genet,2011,43(4):345-349.
• [8]Coronary Artery Disease(C4D)Genetics Consortium.A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease[J].Nat Genet,2011,43(4):339-344.
• [9]Lu X,Wang L,Chen S,et al.Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease[J].Nat Genet,2012,44(8):890-894.
• [10]Roberts R,Stewart AF.Genes and coronary artery disease:where are we?[J].J Am Coll Cardiol,2012,60(18):1715-1721.
• [11]Ndiaye NC,Azimi Nehzad M,El Shamieh S,et al.Cardiovascular disease and genome-wide assocation studies[J].Clinica Chimica Acta,2011,412(19-20):1697-1701.
• [12]Broadbent HM,Peden JF,Lorkowski S,et al.Susceptibility to coronary artery disease and diabetes is encoded by distinct,tightly linked SNPs in the ANRIL locus on chromosome 9p[J].Hum Mol Genet,2008,17(6):806-814.
• [13]Jarinova O,Stewart AF,Roberts R,et al.Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus[J].Arterioscler Thromb Vasc Biol,2009,29(10):1671-1677.
• [14]Visel A,Zhu Y,May D,et al.Targeted deletion of the 9p21non-coding coronary artery disease risk interval in mice[J].Nature,2010,464(7287):409-412.
• [15]Liu Y,Sanoff HK,Cho H,et al.INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis[J].PLoS One,2009,4(4):e5027.
• [16]Cunnington MS,Santibanez Koref M,Mayosi BM,et al.Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression[J].PLoS Genet,2010,6(4):e1000899.
• [17]Holdt LM,Beutner F,Scholz M,et al.ANRIL expression is associated with atherosclerosis risk at chromosome 9p21[J].Arterioscler Thromb Vasc Biol,2010,30(3):620-627.
• [18]Harismendy O,Notani D,Song X,et al.9p21 DNA variants associated with coronary artery disease impair interferon-γsignalling response[J].Nature,2011,470(7333):264-268.
• [19]International HapMap Consortium,Frazer KA,Ballinger DG,et al.A second generation human haplotype map of over 3.1million SNPs[J].Nature,2007,449(7164):851-861.
• [20]Johnson AD,Hwang SJ,Voorman A,et al.Resequencing and clinical associations of the 9p21.3 region:a comprehensive investigation in the Framingham heart study[J].Circulation,2013,127(7):799-810.
• [21]Muehlschlegel JD,Liu KY,Perry TE,et al.Chromosome 9p21variant predicts mortality after coronary artery bypass graft surgery[J].Circulation,2010,122(11 Suppl):S60-S65.
• [22]Gioli-Pereira L,Santos PC,Ferreira NE,et al.Higher incidence of death in multi-vessel coronary artery disease patients associated with polymorphisms in chromosome 9p21[J].BMC Cardiovasc Disord,2012,12:61.
• [23]Davies RW,Dandona S,Stewart AF,et al.Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies[J].Circ Cardiovasc Genet,2010,3(5):468-474.