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。
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.
出处
《吉林大学学报（医学版）》
CAS
CSCD
北大核心
2012年第4期725-729,共5页
Journal of Jilin University：Medicine Edition
基金
国家自然科学基金资助课题(30872174)
