中国北方汉族人群HLA-DRB1单核苷酸多态性与脑血管病的关系

Association between HLA-DRB1 SNPs and cerebrovascular disease in Han population from North China

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 evaluate the association between HLA-DRB1 single nucleotide polymorphisms（SNPs） and cerebrovascular disease in the Han population from North China,and to lay a foundation for immunogenetic research on cerebrovascular disease.Methods 160 patients with cerebrovascular disease and 116 controls were enrolled in the casecontrol study.According to the principle of informed consent,the indexes of height,weight,waist circumference（WC）,abdominal circumference（AC） and body mass index（BMI） were measured;and the venous blood was drawn for the analysis of albumin（ALB）,hemoglobin（Hb）,blood creatinine（Cr）,blood uric acid（UA）,fasting plasma glucose（FBG）,total cholesterol（TC）,triglycerides（TG）,high-density lipoprotein（HDL） and low-density lipoprotein（LDL） and DNA extraction.The SNPs of rs2308765,rs3135388 and rs9269186 in HLA-DRB1 were detected by PCR-LDR assay.The goodness-of-fit χ2 test was used for Hardy-Weinberg equilibrium test in case and control groups.The differences of genotypic frequency and allelic frequency between case and control were test by χ2 test.Results There were no significant differences of WC,ALB,Hb,FBG,TC and TG between two groups（P0.05）;Compared with control group,the BMI,AC,Cr and UA in case group were higher than that in control group（P0.05）,while HDL was lower（P0.05）.There were no significant differences of distributions of genotypes and alleles of rs2308765,rs3135388 and rs9269186 sites between two groups.Conclusion There is not a certain correlation between rs2308765,rs3135388,and rs9269186 SNPs and cerebrovascular disease in Han population from North China.