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: | Kathiresan S; Altschuler D; Anand S; Ardissino D; Asselta R; Ball SG; Balmforth AJ; Berger K; Berglund G; Bernardi F; Bernardinelli L; Berzuini C; Braund PS; Burnett MS; Burtt N; Cambien F; Celli P; Chen Z; Corrocher R; Daly MJ; Deloukas P; Devaney J; Do R; Duga S; Elosua R; Engert JC; Epstein SE; Erdmann J; Ferrario M; Fetiveau R; Fischer M; Friedlander Y; Gabriel SB; Galli M; Gianniny L; Girelli D; Grosshennig A; Guiducci C; Hakonarson HH; Hall AS; Havulinna AS; Hengstenberg C; Hirschhorn JN; Holm H; Huge A; Kent KM; Konig IR; Korn JM; Li M; Lieb W; Lindsay JM; Linsel Nitschke P; Lucas G; MacRae CA; Mannucci PM; Marrugat J; Martinelli N; Marziliano N; Matthai W; McCarroll SA; McKeown PP; Meigs JB; Melander O; Merlini PA; Mirel D; Morgan T; Musunuru K; Nathan DM; Nemesh J; O'Donnell CJ; Olivieri O; Ouwehand W; Parkin M; Patterson CC; Peltonen L; Peyvandi F; Piazza A; Pichard AD; Preuss M; Purcell S; Qasim A; Rader DJ; Ramos R; Reilly MP; Ribichini F; Rossi M; Sala J; Salomaa V; Samani NJ; Satler L; Scheffold T; Scholz M; Schreiber S; Schunkert H; Schwartz SM; Siscovick DS; Spertus JA; Spreafico M; Stark K; Stefansson K; Stoll M; Subirana I; Surti A; Thompson JR; Thorleifsson G; Thorsteinsdottir U; Tubaro M; Voight BF; Waksman R; Wichmann HE; Wilensky R; Williams G; Wright BJ; Xie C; Yee J; Ziegler A; Zonzin P.; CASARI , GIORGIO NEVIO |
| Contributors: | Kathiresan, S; Altschuler, D; Anand, S; Ardissino, D; Asselta, R; Ball, Sg; Balmforth, Aj; Berger, K; Berglund, G; Bernardi, F; Bernardinelli, L; Berzuini, C; Braund, P; Burnett, M; Burtt, N; Cambien, F; Casari, Giorgio Nevio; Celli, P; Chen, Z; Corrocher, R; Daly, Mj; Deloukas, P; Devaney, J; Do, R; Duga, S; Elosua, R; Engert, Jc; Epstein, Se; Erdmann, J; Ferrario, M; Fetiveau, R; Fischer, M; Friedlander, Y; Gabriel, Sb; Galli, M; Gianniny, L; Girelli, D; Grosshennig, A; Guiducci, C; Hakonarson, Hh; Hall, A; Havulinna, A; Hengstenberg, C; Hirschhorn, Jn; Holm, H; Huge, A; Kent, Km; Konig, Ir; Korn, Jm; Li, M; Lieb, W; Lindsay, Jm; Linsel Nitschke, P; Lucas, G; Macrae, Ca; Mannucci, Pm; Marrugat, J; Martinelli, N; Marziliano, N; Matthai, W; Mccarroll, Sa; Mckeown, Pp; Meigs, Jb; Melander, O; Merlini, Pa; Mirel, D; Morgan, T; Musunuru, K; Nathan, Dm; Nemesh, J; O'Donnell, Cj; Olivieri, O; Ouwehand, W; Parkin, M; Patterson, Cc; Peltonen, L; Peyvandi, F; Piazza, A; Pichard, Ad; Preuss, M; Purcell, S; Qasim, A; Rader, Dj; Ramos, R; Reilly, Mp; Ribichini, F; Rossi, M; Sala, J; Salomaa, V; Samani, Nj; Satler, L; Scheffold, T; Scholz, M; Schreiber, S; Schunkert, H; Schwartz, Sm; Siscovick, D; Spertus, Ja; Spreafico, M; Stark, K |
| Publication Year: | 2009 |
| 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 ad 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(1-4) (9p21, 1p13 near CERSL2-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: | unknown |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000263640200023; volume:41; issue:3; firstpage:334; lastpage:341; numberofpages:8; journal:NATURE GENETICS; https://hdl.handle.net/20.500.11768/13116 |
| DOI: | 10.1038/ng.327 |
| Availability: | https://hdl.handle.net/20.500.11768/13116; https://doi.org/10.1038/ng.327 |
| Accession Number: | edsbas.2859D89B |
| Database: | BASE |