HLA-DRB1基因多态性与高血压肾病的关系

摘 要］ 目的：探讨HLA-DRB1基因rs2308765和rs9269186 2个位点的单核苷酸多态性（SNPs）与高血压肾病的关系，为高血压肾病的遗传学机制研究提供理论依据。方法：采用病例-对照的研究方法，收集45例高血压肾病患者和52例对照为研究对象。应用聚合酶链反应-连接酶检测反应（PCR-LDR）技术进行SNPs突变检测。采用拟合优度χ2检验分析基因型分布是否符合Hardy-Weinberg平衡定律，病例组与对照组基因型和等位基因频数分布分析应用χ2检验。结果：rs2308765位点呈G/T二态性，本研究群体中出现G/G和G/T 2种基因型，病例组和对照组rs2308765位点的基因型和等位基因分布差异无统计学意义(P>0.05)；rs9269186位点呈C/G二态性，本研究群体中出现了C/C、G/G和C/G 3种基因型，病例组和对照组的rs9269186位点的基因型分布和等位基因分布差异有统计学意义 (P<0.05)。结论：rs2308765位点的SNPs可能与高血压肾病无关，而rs9269186位点的SNPs可能与高血压肾病有关。

Association between HLA-DRB1 gene polymorphisms and hypertensive nephropathy

Objective To explore the association between single nucleotide polymorphisms(SNPs) at rs2308765 and rs9269186 sites of HLA-DRB1 gene and hypertensive nephropathy,and to provide theroretical basis for study on genetic mechanism of hypertensive nephropathy.Methods Case-control study method was used and 97 cases were collected in the study.PCR-LDR technique was used to detect the SNPs of HLA-DRB1 in 45 patients with hypertensive nephropathy and 52 controls.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 groups were test by χ2 test.Results There were G/T polymorphisms in rs2308765 sites,two genotypes G/G and G/T were found.The differences of genotype and allele distributions in rs2308765 between case and control were not significant(P>0.05).There were C/G polymorphisms in rs9269186 sites,three genotypes C/C G/G and C/G were found.The differences of genotype and allele distributions in rs9269186 between case and control groups were significant(P<0.05).Conclusion The correlation between SNPs at rs9269186 and hypertensive nephropathy is found,but not rs2308765.