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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。
Objective To investigate the relationship between the ABCB1 gene polymorphism of ATP binding cassette B subfamily and the patients with atherothrombotic cerebral infarction (ATCI) in Chinese Han population. Methods 392 ATCI patients (cerebral infarction group) and 429 healthy controls (control group) were selected for SNP detection of rs1128503 and rs1045642 of ABCB1 gene by SNa Pshot method. The frequencies of genotypes and alleles were compared between the two groups, and the relationship between genotypes and clinical phenotypes was analyzed. Results There was no significant difference in the genotype and allele frequencies of rs1128503 and rs1045642 in the cerebral infarction group compared with the control group (P> 0.05). Female ATCI patients rs1128503 locus TT genotype and CC genotype body mass index was higher than the TC genotype (P = 0.007, P = 0.011). The level of CC genotype LDL-C in rs1045642 in women with ATCI was higher than that in CT genotype (P = 0.030). Conclusion There is no significant correlation between ABCB1 gene polymorphism and the incidence of ATCI in Chinese Han population. rs1128503 locus polymorphism may be related to body mass index of female patients with ATCI, rs1045642 locus polymorphism may be associated with female patients with ATCI in patients with low-density lipoprotein cholesterol levels.