Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

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Serval ID
serval:BIB_8F83C8F15B5A
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Production externe
Title
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Journal
Nature Genetics
Author(s)
Kathiresan S., Kathiresan S., Voight B.F., Purcell S., Musunuru K., Ardissino D., Mannucci P.M., Anand S., Engert J.C., Samani N.J., Schunkert H., Erdmann J., Reilly M.P., Rader D.J., Morgan T., Spertus J.A., Stoll M., Girelli D., McKeown P.P., Patterson C.C., Siscovick D.S., O'Donnell C.J., Elosua R., Peltonen L., Salomaa V., Schwartz S.M., Melander O., Altshuler D., Ardissino D., Merlini P.A., 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 P.M., Schwartz S.M., Siscovick D.S., Yee J., Friedlander Y., Elosua R., Marrugat J., Lucas G., Subirana I., Sala J., Ramos R., Kathiresan S., Meigs J.B., Williams G., Nathan D.M., MacRae C.A., O'Donnell C.J., Salomaa V., Havulinna A.S., Peltonen L., Melander O., Berglund G., Voight B.F., Kathiresan S., Hirschhorn J.N., Asselta R., Duga S., Spreafico M., Musunuru K., Daly M.J., Purcell S., Voight B.F., Purcell S., Nemesh J., Korn J.M., McCarroll S.A., Schwartz S.M., Yee J., Kathiresan S., Lucas G., Subirana I., Elosua R., Surti A., Guiducci C., Gianniny L., Mirel D., Parkin M., Burtt N., Gabriel S.B., Samani N.J., Thompson J.R., Braund P.S., Wright B.J., Balmforth A.J., Ball S.G., Hall A., Schunkert H., Schunkert H., Erdmann J., Linsel-Nitschke P., Lieb W., Ziegler A., König I., Hengstenberg C., Fischer M., Stark K., Grosshennig A., Preuss M., Wichmann H.E., Schreiber S., Schunkert H., Samani N.J., Erdmann J., Ouwehand W., Hengstenberg C., Deloukas P., Scholz M., Cambien F., Reilly M.P., Li M., Chen Z., Wilensky R., Matthai W., Qasim A., Hakonarson H.H., Devaney J., Burnett M.S., Pichard A.D., Kent K.M., Satler L., Lindsay J.M., Waksman R., Knouff C.W., Waterworth D.M., Walker M.C., Mooser V., Epstein S.E., Rader D.J., Scheffold T., Berger K., Stoll M., Huge A., Girelli D., Martinelli N., Olivieri O., Corrocher R., Morgan T., Spertus J.A., McKeown P., Patterson C.C., Schunkert H., Erdmann E., Linsel-Nitschke P., Lieb W., Ziegler A., König I.R., Hengstenberg C., Fischer M., Stark K., Grosshennig A., Preuss M., Wichmann H.E., Schreiber S., Hólm H., Thorleifsson G., Thorsteinsdottir U., Stefansson K., Engert J.C., Do R., Xie C., Anand S., Kathiresan S., Ardissino D., Mannucci P.M., Siscovick D., O'Donnell C.J., Samani N.J., Melander O., Elosua R., Peltonen L., Salomaa V., Schwartz S.M., Altshuler D.
Working group(s)
Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
2009
Peer-reviewed
Oui
Volume
41
Number
3
Pages
334-341
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
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.
Keywords
Adult, Age of Onset, Algorithms, Case-Control Studies, Female, Gene Dosage, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Middle Aged, Mutation/physiology, Myocardial Infarction/epidemiology, Myocardial Infarction/genetics, Polymorphism, Single Nucleotide, Risk Factors
DOI
10.1038/ng.327
Pubmed
19198609
Web of science
000263640200023
Create date
21/01/2013 11:56
Last modification date
20/08/2019 15:53
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