期刊
NATURE GENETICS
卷 41, 期 3, 页码 334-341出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.327
关键词
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资金
- Canada Graduate Scholarship Doctoral Award from the Canadian Institutes for Health Research
- May Cohen Eli Lilly Endowed Chair in Womens Health Research, McMaster University
- Michael G. DeGroote and Heart and Stroke Foundation of Ontario Chair in Population Health
- Cardiovascular Institute of the University of Pennsylvania
- UK Medical Research Council
- European Union [LSHM-CT- 2006-037593]
- Canadian Institutes for Health Research
- German Federal Ministry of Education and Research
- Deutsche Forschungsgemeinschaft
- Heart Trust Fund (Royal Victoria Hospital)
- Northern Ireland Chest, Heart and Stroke Association
- Royal Victoria Hospital Research Fellowship
- Northern Ireland Research and Development Office
- Cariverona Foundation, Verona, Italy
- Veneto Region
- Italian Ministry of University and Research
- MedStar Research Institute
- GlaxoSmithKline
- British Heart Foundation
- Wellcome Trust
- Finnish Foundation for Cardiovascular Research
- Nordic Center of Excellence in Disease Genetics
- Center of Excellence in Complex Disease Genetics of the Academy of Finland
- Sigrid Juselius Foundation
- National Center for Research Resources [U54 RR020278]
- The Broad Institute Center for Genotyping and Analysis
- Department of Medicine and Cardiovascular Research Center at Massachusetts General Hospital
- Donovan Family Foundation
- Fannie E. Rippel Foundation
- Doris Duke Charitable Foundation Clinical Scientist Development Award
- National Heart, Lung, and Blood Institute
- AGAUR Generalitat de Catalunya
- FIS de Catalunya
- CIBER Epidemiologia y Salud Publica
- Ministerio de Sanidad y Consumo Instituto de Salud Carlos III [Red HERACLES RD06/0009]
- US National Institutes of Health [K24 DK080140, N01HD013107, P30ES007033, R01HL056931]
- ESRC [ES/G007438/1] Funding Source: UKRI
- MRC [G0802320] Funding Source: UKRI
- Economic and Social Research Council [ES/G007438/1] Funding Source: researchfish
- Medical Research Council [G0802320] Funding Source: researchfish
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.
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