ABCA1 Mutations Not Associated With Ischemic Heart Disease

A genetic association study casts doubt on what we think we know about HDL.

It is well established that mutations in the gene encoding the adenosine triphosphate–binding cassette transporter ABCA1, a membrane-associated protein that regulates cellular cholesterol, are associated with Tangier disease and familial HDL deficiency but not with alterations in levels of other plasma lipoproteins. However, the effects of such mutations on ischemic heart disease risk are unclear.

To assess whether low plasma HDL levels associated with mutations in the ABCA1 gene are also associated with ischemic heart disease risk, investigators in Denmark analyzed data from three studies. The Copenhagen City Heart Study was a prospective study of 9022 individuals initiated in 1976 with 10- to 20-year follow-up; the Copenhagen General Popul…

Reviewing Author

JoAnne M. Foody, MD

Disclosures

Consultant / Advisory boardAegerion; Amarin; Bristol-Myers Squibb; Janssen; Merck; Pfizer; Sanofi-Aventis; Boehringer Ingelheim

Leadership positions in professional societiesAmerican College of Cardiology, Cardiosmart (Co-chair)

JoAnne M. Foody, MD

Disclosures

Consultant / Advisory boardAegerion; Amarin; Bristol-Myers Squibb; Janssen; Merck; Pfizer; Sanofi-Aventis; Boehringer Ingelheim

Leadership positions in professional societiesAmerican College of Cardiology, Cardiosmart (Co-chair)

ABCA1 Mutations Not Associated With Ischemic Heart Disease

Topics

Reviewing Author