No large-effect low-frequency coding variation found for myocardial infarction

Genome-wide association studies have identified variants, primarily common, that are associated with coronary artery disease or myocardial infarction (MI), but have not tested the majority of the low frequency and rare variation in the genome. We explored the hypothesis that previously untested low...

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Published in:Human molecular genetics 2014-09, Vol.23 (17), p.4721-4728
Main Authors: Holmen, Oddgeir L, Zhang, He, Zhou, Wei, Schmidt, Ellen, Hovelson, Daniel H, Langhammer, Arnulf, Løchen, Maja-Lisa, Ganesh, Santhi K, Mathiesen, Ellisiv B, Vatten, Lars, Platou, Carl, Wilsgaard, Tom, Chen, Jin, Skorpen, Frank, Dalen, Håvard, Boehnke, Michael, Abecasis, Goncalo R, Njølstad, Inger, Hveem, Kristian, Willer, Cristen J
Format: Article
Language:English
Subjects:
Association Studies
Exome - genetics
Female
Genetic Predisposition to Disease
Genetic Variation
Genome, Human - genetics
Humans
Male
Myocardial Infarction - genetics
Open Reading Frames - genetics
Polymorphism, Single Nucleotide
Risk Factors
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Summary:Genome-wide association studies have identified variants, primarily common, that are associated with coronary artery disease or myocardial infarction (MI), but have not tested the majority of the low frequency and rare variation in the genome. We explored the hypothesis that previously untested low frequency (1-5% minor allele frequency) and rare (1% and 66.2% of variants 1.86 and >1.36 for 1 and 5% frequency, respectively], we did not identify any novel genes or single variants that reached significance. This suggests that low-frequency coding variants with large effect sizes (OR >2) may not exist for MI. Larger sample sizes may identify coding variants with more moderate effects.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/ddu175