Association of R219K polymorphism in the ABCA1 gene with ischemic stroke in a Chinese Han population
10.3760/cma.j.issn.1673-4165.2015.09.005
- VernacularTitle:ABCA1基因 R219K 多态性与中国汉族人群缺血性卒中的相关性
- Author:
Shunchang SUN
;
Rongyao HOU
;
Ruiyou GUO
;
Xudong PAN
;
Xiaoyan ZHU
- Publication Type:Journal Article
- Keywords:
Stroke;
Brain Ischemia;
ATP Binding Cassette Transporter 1;
Polymorphism,Genetic;
Genetic Predisposition to Disease;
Atherosclerosis
- From:
International Journal of Cerebrovascular Diseases
2015;(9):662-668
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the correlation between R219K (rs2230806 G/A) polymorphism in the ATP binding cassette transporter (ABC) A1 gene and ischemic stroke in a Chinese Han population. Methods A total of 360 patients with ischemic stroke and 358 healthy subjects were selected using a case-control study design. The patients with ischemic stroke were redivided into either a large artery atherosclerosis (LAA) group or a smal artery occlusion (SAO) group according to the TOAST criteria. Polymerase chain reaction-restriction fragment length polymorphism analysis and direct sequencing method were used to detect R219K (rs2230806 G/A) polymorphism in the ABCA1 gene. Results Using GG genotype as a reference, the AA genotype reduced the risk of ischemic stroke by 65% (odds ratio [OR] 0. 35, 95%confidence interval [CI] 0. 23 - 0. 55; P < 0. 001) and the onset risk of LAA by 77% (OR 0. 23, 95% CI 0. 13 - 0. 40; P < 0. 001), but it did not have significant correlation with SAO. The interaction of rs2230806 G/A polymorphisms with smoking, drinking, hypertension, and diabetes had no significant effect on the on-set risk of ischemic stroke (al P > 0. 05). AA genotype was enable to increase the high-density lipoprotein cholesterol levels of the patient group (OR 0. 35, 95% CI 0. 28 - 0. 42; P < 0. 001) and the control group (OR 0. 19, 95% CI 0. 14 - 0. 23; P < 0. 001) significantly, while it did not have significant correlation with the low-density lipoprotein cholesterol, total cholesterol, and triglyceride. Conclusions R219K (rs2230806 G/A) polymorphism in the ABCA1 gene may be associated with the reduced predisposition of ischemic stroke in a Chinese Han population, especialy LAA. The A alele may be a hereditary protective factor; its mechanism may be associated with the increase of high-density lipoprotein cholesterol levels.
