巨噬细胞清道夫受体1基因多态性与缺血性脑卒中遗传易感性的关系

Relationship between polymorphism of macrophage scavenger receptor 1 gene and genetic susceptibility of ischemic stroke

目的分析中国汉族人群巨噬细胞清道夫受体1(macrophage scavenger receptor 1,MSR1)rs13306541基因多态性与缺血性脑卒中(ischemic stroke,IS)遗传易感性的关系。方法采用高通量Taq Man-MGB探针结合荧光定量PCR技术,对377例经CT或MRI证实为IS的患者和377例经体检证实的健康者,进行MSR1 rs13306541基因多态性与IS遗传易感性的分析。结果 IS组MSR1 rs13306541基因型分布(AA型75.07%,AG型22.01%,GG型2.92%)与对照组(83.82%,15.65%,0.53%)的差异有统计学意义(P<0.01);基因型频率的相对风险分析发现,AG型及GG型患IS的风险为AA型的1.88倍(OR=1.88,95%CI=1.21~2.91,P<0.05);这种关联尤其在年龄<67岁(校正OR=1.91,95%CI=1.11~3.30)、男性人群(校正OR=1.78,95%CI=1.07~2.97)及肥胖人群(BMI≥24,校正OR=2.01,95%CI=1.17~3.46)更为明显。结论 MSR1 rs13306541 G等位基因可能是IS发病的一个危险因子,MSR1基因多态性可能成为中国人群缺血性脑卒中高危人群筛选的标志和干预靶点。

[Objective] To investigate the relationship between rs13306541 polymorphism in the promoter region of the macrophage scavenger receptor 1（MSR1） gene and genetic susceptibility of ischemic stroke（IS） in Chinese Han population.[Methods] By using the high-flux Taq Man probe technology coupled with fluorescent quantitative PCR method,rs13306541 polymorphism of MSR1 and genetic susceptibility of IS were detected in 377 IS patients diagnosed by CT/MRI and 377 normal control subjects. [Results] The frequencies of the AA,AG,and GG genotypes of rs13306541 were 75.07%,22.01% and 2.92%respectively in IS group,while those in control group were 83.82%,15.65% and 0.53%,and the differences were statistically significant（P0.01）. The risk of suffering from IS in those of AG and GG genotypes was 1.88 times higher than in those of AA genotype（OR=1.88,95%CI=1.21-2.91,P0.05）. The significantly increased risk of IS associated with the combined genotypes（AG or GG） were found more evidently among subjects who were younger than 67 years old（adjusted OR=1.91,95%CI=1.11-3.30）,males（adjusted OR=1.78,95%CI=1.07-2.97）,and subjects with overweight（BMI≥24,adjusted OR=2.01,95%CI=1.17-3.46）.[Conclusion] The G allele of rs13306541 in the MSR1 gene is a possible risk factor of ischemic stroke,and MSR1 gene polymorphism may be a marker and target for screening for high risk population of ischemic stroke in Chinese population.