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目的研究多耐药基因1(ABCB1)基因多态性与人群缺血性卒中发生的相关性。方法采用病例对照研究方法,对120例缺血性卒中患者和110例健康对照者,应用Taqman探针和直接测序的方法检测血浆中ABCB1 C3435T基因多态性,了解其基因多态性分布情况。结果 ABCB1 C3435T基因型在病例组CC、CT和TT的分布频率分别为50%、25%和25%,在对照组中分别为72.7%、15.5%和11.8%,差异均有统计学意义(P<0.05)。根据ABCB1 C3435T基因型分布携带CT和TT基因型患者分别比携带CC基因型的人发生缺血性卒中的危险性增加2.35倍、3.08倍(OR=2.35,95%CI 1.19~4.46;OR=3.08,95%CI 1.48~6.40)。结论 ABCB1 C3435T基因型分布存在种族差异,ABCB1 C3435T基因多态性与中国北方人群缺血性卒中发生相关。
Objective To investigate the association of polymorphism of multidrug resistance gene 1 (ABCB1) with ischemic stroke in population. Methods A case-control study was conducted in 120 ischemic stroke patients and 110 healthy controls. The gene polymorphisms of ABCB1 C3435T in plasma were detected by Taqman probe and direct sequencing. Results The prevalences of CCB, CT and TT in ABCB1 C3435T genotype were 50%, 25% and 25% in the case group and 72.7%, 15.5% and 11.8% in the control group, respectively, and the differences were statistically significant (P <0.05). According to the distribution of ABCB1 C3435T genotypes, the risk of ischemic stroke in patients with CT and TT genotypes was 2.35 times and 3.08 times higher than those with CC genotype (OR = 2.35, 95% CI 1.19-4.46, OR = 3.08 , 95% CI 1.48 ~ 6.40). Conclusion There are racial differences in the distribution of ABCB1 C3435T genotypes. ABCB1 C3435T polymorphism is associated with ischemic stroke in northern China.