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目的:研究北方汉族人群脑血管病与HLA-DRB1单核苷酸多态性的遗传关联性,为脑血管病的免疫遗传学研究奠定基础。方法:采用病例对照研究方法,收集160例脑血管病患者和139例健康对照。根据知情同意原则对每例受检者进行身高、体质量、腰围(WC)、腹围(AC)、体质量指数(BMI)等一般指标测量,采集空腹静脉血,检测血白蛋白(ALB)、血红蛋白(Hb)、血肌酐(Cr)、血尿酸(UA)、空腹血糖(FBG)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白(HDL)和低密度脂蛋白(LDL)等生化指标,并提取基因组DNA。应用聚合酶链式反应-连接酶检测反应(PCR-LDR)技术检测HLA-DRB1基因上rs2308765、rs3135388及rs9269186位点的单核苷酸多态性。采用拟合优度χ2检验分析基因型分布是否符合Hardy-Weinberg平衡,应用χ2检验分析病例组与对照组基因型和等位基因频数分布。结果:病例组和对照组WC、ALB、Hb、FBG、TC和TG比较差异无统计学意义(P>0.05);病例组BMI、AC、Cr和UA均高于对照组(P<0.05),HDL低于对照组(P<0.05);病例组和对照组rs2308765、rs3135388及rs9269186的基因型频数分布和等位基因频数分布差异均无统计学意义(P>0.05)。结论:北方汉族人群脑血管病的发生可能与HLA-DRB1的rs2308765、rs3135388及rs9269186单核苷酸多态性无关联。
Objective: To study the genetic association of cerebrovascular disease and single nucleotide polymorphism of HLA-DRB1 in Han population of north China, and to lay a foundation for the study of immune genetics of cerebrovascular disease. Methods: A case-control study was conducted in 160 patients with cerebrovascular disease and 139 healthy controls. According to the principle of informed consent, the average body mass, waist circumference (WC), abdominal circumference (AC) and body mass index (BMI) were measured for each patient. Fasting venous blood was collected and serum albumin (ALB) , Hb, Cr, UA, FBG, TC, TG, HDL and LDL LDL) and other biochemical indicators, and extract genomic DNA. The single nucleotide polymorphisms of rs2308765, rs3135388 and rs9269186 in HLA-DRB1 gene were detected by polymerase chain reaction-ligase assay (PCR-LDR). Chi-square test was used to analyze whether the distribution of genotypes conformed to Hardy-Weinberg equilibrium. Chi-square test was used to analyze the frequency distribution of genotypes and alleles in case group and control group. Results: There was no significant difference in WC, ALB, Hb, FBG, TC and TG between case group and control group (P> 0.05). BMI, AC, Cr and UA in case group were higher than those in control group HDL was lower than that of the control group (P <0.05). There was no significant difference in genotype frequency and allele frequency between rs2308765, rs3135388 and rs9269186 in case group and control group (P> 0.05). Conclusion: The incidence of cerebrovascular disease in North Han population may not be associated with rs2308765, rs3135388 and rs9269186 single nucleotide polymorphisms in HLA-DRB1.