Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
| Title: | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants |
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| Authors: | Myocardial Infarction Genetics Consortium; Kathiresan S; Voight BF; Purcell S; Musunuru K; Ardissino D; Mannucci PM; Anand S; Engert JC; Samani NJ; Schunkert H; Erdmann J; Reilly MP; Rader DJ; Morgan T; Spertus JA; Stoll M; Girelli D; McKeown PP; Patterson CC; Siscovick DS; O'Donnell CJ; Elosua R; Peltonen L; Salomaa V; Schwartz SM; Melander O; Altshuler D; Merlini PA; Berzuini C; Bernardinelli L; Peyvandi F; Tubaro M; Celli P; Ferrario M; Fetiveau R; Marziliano N; Casari G; Galli M; Ribichini F; Rossi M; Bernardi F; Zonzin P; Yee J; Friedlander Y; Marrugat J; Lucas G; Subirana I; Sala J; Ramos R; Meigs JB; Williams G; Nathan DM; MacRae CA; Havulinna AS; Berglund G; Hirschhorn JN; Asselta R; Duga S; Spreafico M; Daly MJ; Nemesh J; Korn JM; McCarroll SA; Surti A; Guiducci C; Gianniny L; Mirel D; Parkin M; Burtt N; Gabriel SB; Thompson JR; Braund PS; Wright BJ; Balmforth AJ; Ball SG; Hall AS; Wellcome Trust Case Control Consortium; Linsel Nitschke P; Lieb W; Ziegler A; König I; Hengstenberg C; Fischer M; Stark K; Grosshennig A; Preuss M; Wichmann HE; Schreiber S; Ouwehand W; Deloukas P; Scholz M; Cambien F; Li M; Chen Z; Wilensky R; Matthai W; Qasim A; Hakonarson HH; Devaney J; Burnett MS; Pichard AD; Kent KM; Satler L; Lindsay JM; Waksman R; Epstein SE; Scheffold T; Berger K; Huge A; Martinelli N; Olivieri O; Corrocher R; McKeown P; Erdmann E; König IR; Hólm H; Thorleifsson G; Thorsteinsdottir U; Stefansson K; Do R; Xie C; Siscovick D; Altshuler D.; PIAZZA, Alberto |
| Contributors: | Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, O'Donnell CJ, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Melander O, Altshuler D, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Kathiresan S, Meigs JB, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Kathiresan S, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Voight BF, Purcell S, Nemesh J, Korn JM, McCarroll SA, Schwartz SM, Yee J, Kathiresan S, Lucas G, Subirana I, Elosua R, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, Samani NJ, Thompson JR, Braund PS, Wright BJ, Balmforth AJ, Ball SG, Hall AS; Wellcome Trust Case Control Consortium, Schunkert H, Erdmann J, Linsel-Nitschke P, Lieb W, Ziegler A, König I, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Schunkert H, Samani NJ, Erdmann J, Ouwehand W, Hengstenberg C, Deloukas P, Scholz M, Cambien F, Reilly MP, Li M, Chen Z, Wilensky R, Matthai W, Qasim A, Hakonarson HH, Devaney J, Burnett MS, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Epstein SE, Rader DJ, Scheffold T, Berger K, Stoll M, Huge A, Girelli D, Martinelli N, Olivieri O, Corrocher R, Morgan T, Spertus JA, McKeown P, Patterson CC, Schunkert H, Erdmann E, Linsel-Nitschke P, Lieb W, Ziegler A, König IR, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Hólm H, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Engert JC, Do R, Xie C, Anand S, Kathiresan S, Ardissino D, Mannucci PM, Siscovick D, O'Donnell CJ, Samani NJ, Melander O, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Altshuler D. |
| Publication Year: | 2009 |
| Collection: | Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| Subject Terms: | Genetics cardiovascular disease; genome-wide association; single nucleotide polymorphisms (SNPs); copy number variants (CNVs); association with early-onset myocardial infarction |
| Description: | We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10(-3)). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk. |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/19198609; info:eu-repo/semantics/altIdentifier/wos/WOS:000263640200023; volume:41(3); firstpage:334; lastpage:341; numberofpages:8; journal:NATURE GENETICS; http://hdl.handle.net/2318/60709; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70749096913; http://www.nature.com/ng/journal/v41/n3/pdf/ng.327.pdf |
| DOI: | 10.1038/ng.327 |
| Availability: | http://hdl.handle.net/2318/60709; https://doi.org/10.1038/ng.327; http://www.nature.com/ng/journal/v41/n3/pdf/ng.327.pdf |
| Rights: | info:eu-repo/semantics/closedAccess |
| Accession Number: | edsbas.5C4EB286 |
| Database: | BASE |