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Comment
. 2005 Apr;115(4):831-3.
doi: 10.1172/JCI24715.

MEF2A sequence variants and coronary artery disease: a change of heart?

David Altshuler  1 , Joel N Hirschhorn
Affiliations
Comment

MEF2A sequence variants and coronary artery disease: a change of heart?

David Altshuler et al. J Clin Invest. 2005 Apr.

Abstract

Rare mutations in MEF2A have been proposed as a cause of coronary artery disease (CAD) and myocardial infarction (MI). In this issue of the JCI, Pennacchio and colleagues report sequencing MEF2A in 300 patients with premature CAD and in controls. Only 1 CAD patient was found to carry a missense mutation not found in controls. The specific 21-bp deletion in MEF2A previously proposed as causal for CAD and/or MI was observed in unaffected individuals and did not segregate with CAD in families. These results do not support the hypothesis that mutations in MEF2A are a cause of CAD and/or MI but do illustrate general principles regarding the difficulty of connecting genetic variation to common diseases.

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  • Lack of MEF2A mutations in coronary artery disease.
    Weng L, Kavaslar N, Ustaszewska A, Doelle H, Schackwitz W, Hébert S, Cohen JC, McPherson R, Pennacchio LA. Weng L, et al. J Clin Invest. 2005 Apr;115(4):1016-20. doi: 10.1172/JCI24186. J Clin Invest. 2005. PMID: 15841183 Free PMC article.

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