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Myocardial Infarction–Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries
Author(s) -
Mélissa Beaudoin,
Rajat M. Gupta,
HongHee Won,
Ken Sin Lo,
Ron Do,
Christopher A. Henderson,
Claire Lavoie-St-Amour,
Simon Langlois,
Daniel Rivas,
Stéphanie Lehoux,
Sekar Kathiresan,
JeanClaude Tardif,
Yan V. Sun,
Guillaume Lettre
Publication year - 2015
Publication title -
arteriosclerosis thrombosis and vascular biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.007
H-Index - 270
eISSN - 1524-4636
pISSN - 1079-5642
DOI - 10.1161/atvbaha.115.305534
Subject(s) - biology , genome wide association study , locus (genetics) , genetics , single nucleotide polymorphism , expression quantitative trait loci , snp , gene , genotype
Coronary artery disease (CAD), including myocardial infarction (MI), is the main cause of death in the world. Genome-wide association studies have identified dozens of single nucleotide polymorphisms (SNPs) associated with CAD/MI. One of the most robust CAD/MI genetic associations is with intronic SNPs in the gene PHACTR1 on chromosome 6p24. How these PHACTR1 SNPs influence CAD/MI risk, and whether PHACTR1 itself is the causal gene at the locus, is currently unknown.

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