Genetic Variation in ABCA1 Predicts Ischemic Heart Disease in the General Population-Reference-Cited by-同舟云学术

Genetic Variation in ABCA1 Predicts Ischemic Heart Disease in the General Population

Published:2008-01 Issue:1 Volume:28 Page:180-186
ISSN:1079-5642
Container-title:Arteriosclerosis, Thrombosis, and Vascular Biology
language:en
Short-container-title:ATVB

Author:

Frikke-Schmidt Ruth¹,Nordestgaard Børge G.¹,Jensen Gorm B.¹,Steffensen Rolf¹,Tybjærg-Hansen Anne¹

Affiliation:

1. From the Department of Clinical Biochemistry (R.F.-S., A.T.-H.), Rigshospitalet, Copenhagen University Hospital, University of Copenhagen; the Department of Clinical Biochemistry (B.G.N.), Herlev University Hospital, University of Copenhagen; the Copenhagen City Heart Study (B.G.N., G.B.J., A.T.-H.), Bispebjerg University Hospital, University of Copenhagen; and the Department of Medicine B (R.S.), Hillerød Hospital, Hillerød, Denmark.

Abstract

Objective— We tested the hypothesis that 6 nonsynonymous single nucleotide polymorphisms (SNPs) in ATP-Binding-Cassette transporter A1 (ABCA1 ) affect risk of ischemic heart disease (IHD) in the general population. Methods and Results— We genotyped 9259 individuals from the Danish general population followed for 25 years. Two SNPs (V771M and V825I) were previously associated with increases in HDL-C, 1 (R1587K) with decreased HDL-C, whereas 3 (R219K, I883M and E1172D) did not affect HDL-C levels. Despite this, 5 out of 6 SNPs (V771M, V825I, I883M, E1172D, R1587K) predicted increased risk of IHD. Similar results were obtained in a verification sample with 932 IHD cases versus 7999 controls. A stepwise regression approach identified V771M, I883M, and E1172D as the most important predictors of IHD and additive effects on IHD risk were present for V771M/I883M and I883M/E1172D pairs. Conclusions— We show that 3 of 6 nonsynonymous SNPs in ABCA1 predict risk of IHD in the general population.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine

Link

https://www.ahajournals.org/doi/pdf/10.1161/ATVBAHA.107.153858

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