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dc.contributor.authorSaade, Stephanie
dc.contributor.authorCazier, Jean-Baptiste
dc.contributor.authorGhassibe-Sabbagh, Michella
dc.contributor.authorYouhanna, Sonia
dc.contributor.authorBadro, Danielle A.
dc.contributor.authorKamatani, Yoichiro
dc.contributor.authorHager, Jörg
dc.contributor.authorYeretzian, Joumana S.
dc.contributor.authorEl-Khazen, Georges
dc.contributor.authorHaber, Marc
dc.contributor.authorSalloum, Angelique K.
dc.contributor.authorDouaihy, Bouchra
dc.contributor.authorOthman, Raed
dc.contributor.authorShasha, Nabil
dc.contributor.authorKabbani, Samer
dc.contributor.authorChammas, Elie
dc.contributor.authorFarrall, Martin
dc.contributor.authorGauguier, Dominique
dc.contributor.authorZalloua, Pierre A.
dc.contributor.authorPlatt, Daniel E.
dc.contributor.authorFGENTCARD Consortium
dc.contributor.authorEl Bayeh, Hamid
dc.date.accessioned2012-04-20T20:15:57Z
dc.date.issued2011
dc.identifier.citationSaade, Stephanie, Jean-Baptiste Cazier, Michella Ghassibe-Sabbagh, Sonia Youhanna, Danielle A. Badro, Yoichiro Kamatani, Jörg Hager, et al. 2011. Large scale association analysis identifies three susceptibility loci for coronary artery disease. PLoS ONE 6(12): e29427.en_US
dc.identifier.issn1932-6203en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:8605334
dc.description.abstractGenome wide association studies (GWAS) and their replications that have associated DNA variants with myocardial infarction (MI) and/or coronary artery disease (CAD) are predominantly based on populations of European or Eastern Asian descent. Replication of the most significantly associated polymorphisms in multiple populations with distinctive genetic backgrounds and lifestyles is crucial to the understanding of the pathophysiology of a multifactorial disease like CAD. We have used our Lebanese cohort to perform a replication study of nine previously identified CAD/MI susceptibility loci (LTA, CDKN2A-CDKN2B, CELSR2-PSRC1-SORT1, CXCL12, MTHFD1L, WDR12, PCSK9, SH2B3, and SLC22A3), and 88 genes in related phenotypes. The study was conducted on 2,002 patients with detailed demographic, clinical characteristics, and cardiac catheterization results. One marker, rs6922269, in MTHFD1L was significantly protective against MI (OR = 0.68, p = 0.0035), while the variant rs4977574 in CDKN2A-CDKN2B was significantly associated with MI (OR = 1.33, p = 0.0086). Associations were detected after adjustment for family history of CAD, gender, hypertension, hyperlipidemia, diabetes, and smoking. The parallel study of 88 previously published genes in related phenotypes encompassed 20,225 markers, three quarters of which with imputed genotypes The study was based on our genome-wide genotype data set, with imputation across the whole genome to HapMap II release 22 using HapMap CEU population as a reference. Analysis was conducted on both the genotyped and imputed variants in the 88 regions covering selected genes. This approach replicated HNRNPA3P1-CXCL12 association with CAD and identified new significant associations of CDKAL1, ST6GAL1, and PTPRD with CAD. Our study provides evidence for the importance of the multifactorial aspect of CAD/MI and describes genes predisposing to their etiology.en_US
dc.language.isoen_USen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.isversionofdoi:10.1371/journal.pone.0029427en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3246490/en_US
dash.licenseLAA
dc.subjectgeneticsen_US
dc.subjectgenomicsen_US
dc.titleLarge Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Diseaseen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalPLoS ONEen_US
dash.depositing.authorPlatt, Daniel E.
dc.date.available2012-04-20T20:15:57Z
dc.identifier.doi10.1371/journal.pone.0029427*
dash.authorsorderedfalse
dash.contributor.affiliatedPlatt, Daniel E.
dash.contributor.affiliatedZalloua, Pierre


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