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Certain genetic profiles signal heart disease

A recent analysis[1] of two genome-wide association studies has shown that certain genetic profiles increase the risk of both coronary artery disease (CAD) and myocardial infarction (MI) in those with CAD. The findings come from a research team led by Dr Muredach P Reilly of the University of Pennsylvania Cardiovascular Institute, Philadelphia.

To identify loci that predispose to angiographic coronary artery disease (CAD), the authors compared 12,393 individuals with CAD with 7,383 controls who did not. To identify loci that predispose to heart attacks, they compared 5,783 patients who had angiographic CAD and had a heart attack with 3,644 who had angiographic CAD but no heart attack.

helix2The researchers identified a new locus, ADAMTS7, which increased the risk of developing CAD. In the heart-attack comparison, the authors found a new association at the ABO blood group locus. They found that the same gene that codes for the enzyme behind people being blood group O offered protection against heart attacks.

They say: “Discovery of ABO as the top locus for myocardial infarction in patients with angiographic CAD is notable, in view of decades of work suggesting a relation between ABO blood-groups and both thrombosis and coronary heart disease.”

They conclude: “Our findings indicate that specific genetic variants predispose to the development of coronary atherosclerosis whereas others predispose to subsequent plaque rupture and acute heart attack… 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.”

In a linked comment, Drs Luca A Lotta and Flora Peyvandi, Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, and Luigi Villa Foundation, University of Milan, Italy, say: “As in other genome-wide association studies, biological explanations for the identified associations are still not evident. The field of genetics is rapidly moving forward and large re-sequencing studies, with next-generation platforms, will probably compete with or even replace genome-wide association studies as the gold-standard for the identification of disease-related genes or variants. These studies might also provide insights into associations identified by genome-wide association studies.”


  1. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies, Reilly, MP, et al. Lancet, 2011;377:383 – 392

Read Online: journals/lancet/article/ PIIS0140-6736(10)61996-4/abstract (payment/subscription required)

Published on: February 2, 2011

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