ABCB1基因多态性与中国汉族人群动脉粥样硬化性血栓性脑梗死的相关性研究

Association between ABCB1 Gene Polymorphisms and Atherosclerotic Thrombotic Cerebral Infarction in a Chinese Han Population

目的探讨ATP结合盒B亚家族成员1转运蛋白(ABCB1)基因多态性与中国汉族人群动脉粥样硬化性血栓性脑梗死(ATCI)患者的关系。方法选取392例ATCI患者(脑梗死组)和429例健康对照者(对照组),通过SNa Pshot方法对ABCB1基因的rs1128503和rs1045642位点进行SNP检测。比较两组的基因型和等位基因分布频率,分析基因型与临床表型的关系。结果脑梗死组rs1128503和rs1045642位点的基因型及等位基因分布频率与对照组比较,无统计学意义(P>0.05)。女性ATCI患者的rs1128503位点TT基因型和CC基因型体重指数高于TC基因型(P=0.007,P=0.011)。女性ATCI患者的rs1045642位点CC基因型低密度脂蛋白-胆固醇水平高于CT基因型(P=0.030)。结论 ABCB1基因多态性与中国汉族人群ATCI的发病无明显相关性。rs1128503位点多态性可能与女性ATCI患者的体重指数有关,rs1045642位点多态性可能与女性ATCI患者的低密度脂蛋白-胆固醇水平有关。

Aim To investigate the association between the ABCB1 gene polymorphisms and atherosclerotic thrombotic cerebral infarction in a Chinese Han population. Methods A total of 392 patients with atherosclerotic thrombotic cerebral infarction and 429 healthy controls were enrolled in the study. The genotypes ofABCB1 gene （rs1128503 and rs1045642） were determined by the SNaPshot. The genotype and allele frequencies were compared between the two groups. The association between the genotypes and clinical phenotypes were analyzed. Results There were no significant differences of the genotype and allele frequencies between the cases and the controls （P〉0.05）. BMI was higher in the TT and CC genotype of rsl128503 compared with TC genotype in the female cases （P=-0.007, P=-0.011）. The level of serum low density lipoprotein cholesterol was higher in the CC genotype of rs1045642 compared with CT genotype in the female cases （P=-0.030）. Conclusion There was no significant association between ABCB 1 gene polymorphisms and atherosclerotic thrombotic cerebral infarction in a Chinese Hart population. The rs1128503 polymorphism may be associated with BMI in the female patients with atherosclerotic thrombotic cerebral infarction. The rs1045642 polymorphism may be correlated with the level of serum low density lipoprotein cholesterol in the female patients with atherosclerotic thrombotic cerebral infarction.