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Identification of ADAMTS7 as a Novel Locus for Coronary Atherosclerosis and Association of ABO with Myocardial Infarction in the Presence of Coronary Atherosclerosis

According to an article published in The Lancet (2011;377:83-392), a study was performed to test whether genetic factors distinctly contribute to either development of coronary atherosclerosis or, specifically, to myocardial infarction in existing coronary atherosclerosis.

The investigation included two genome-wide association studies (GWAS) with coronary angiographic phenotyping in participants of European ancestry. To identify loci that predispose to angiographic coronary artery disease (CAD), the study compared individuals who had this disorder (n=12,393) with those who did not (controls, n=7,383). To identify loci that predispose to myocardial infarction, patients who had angiographic CAD and myocardial infarction (n=5,783) were compared with those who had angiographic CAD but no myocardial infarction (n=3,644).

The study identified a novel locus (the specific location of a gene or DNA sequence on a chromosome), ADAMTS7 (p=4 98×10-13) in patients with angiographic CAD compared to the control group. In the comparison of patients with angiographic CAD who had myocardial infarction versus those with angiographic CAD but no myocardial infarction, the study identified a novel association at the ABO locus (p=7 62×10−9). The ABO association was attributable to the glycotransferase-deficient enzyme that encodes the ABO blood group O phenotype previously proposed to protect against myocardial infarction.

According to the authors, the findings indicate that specific genetic predispositions promote the development of coronary atherosclerosis whereas others lead to myocardial infarction in the presence of coronary atherosclerosis. The authors added that the relation to specific CAD phenotypes might modify how novel loci are applied in personalized risk assessment and used in the development of novel therapies for CAD.


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