ANRIL基因与中国川东北汉族人群动脉粥样硬化性脑梗死相关性研究

ANRIL genetic variation is associated with atherothrombotic stroke in Chinese Han population in Northeast Sichuan

目的探讨ANRIL(antisense noncoding RNA in the INK4locus,ANRIL)基因与中国川东北汉族人群动脉粥样硬化性脑梗死(Atherosclerotic stroke,ATS)的相关性。方法选择我国川东北地区汉族人群为研究对象,采用病例-对照研究,以200例ATS患者作为病例组,同期体检的健康人群205例作为对照组进行研究。对ATS发病常见的环境危险因素和ANRIL基因4个单核甘酸多态性位点(SNP)(rs1537378,rs7865618,rs10757274,rs2383206)进行分析,比较不同基因型与ATS发病风险的相关性,并根据性别和年龄进一步分组,进行亚组分析研究ATS是否具有年龄及性别遗传特异性。结果超重、血脂异常与ATS显著相关(P<0.05);rs1537378多态位点的GG基因型、rs7865618多态位点的AA基因型与男性ATS显著相关(P<0.05),rs1537378多态位点的GG基因型与年龄≥45岁人群ATS显著相关(P<0.05),均显著增加其ATS易感性。结论超重、血脂异常是ATS的危险因素;ANRIL基因SNPs与中国川东北汉族人群ATS相关。

Objective This study aims were to evaluate whether the single nucleotide polymorphisms （SNP） of the ANRIL gene were associated with increased risk of atherosclerosis stroke （ATS） in Chinese Han population in Northeast Sichuan. Methods 200 patients with ATS of Chinese Han population in Nanchong region （Northeast Sichuan） included as case group and 205 healthy people as control group. The genotyping of 4 SNPs in ANRIL gene were tested and analyzed, as well as the association of SNPs with ATS were compared. Subgroup analyses were also carried out to determine whether the effect of the ANRIL polymorphism is specific to age and gender in participants. Results Dyslipidemia and overweight were significantly associated with ATS （P 〈0.05）. GG genotype of rs1537378 and AA genotype of rs7865618 were significantly associated with ATS in male subgroup （P〈0.05）, while GG genotype of rs1537378 was signifieantly associated with ATS in ≥45 year＇s old subgroup （P〈0. 05）, which could increase ATS susceptibility. Conclusions Dyslipidemia and overweight are risk factor for ATS. SNPs of ANRIL genes are associated with ATS in Han nationality of Chinese population.