中国甘肃汉/ 回族人群C1GALT1、DEFA 基因多态性与IgA 肾病易感性的关系

目的:探讨β-1,3鄄半乳糖基转移酶(C1GALT1)基因rs1008898 位点及琢防御素(α-defensin,DEFA) 基因rs2738081 位点多态性与中国甘肃省汉族人群和回族人群IgA 肾病易感性的关系,筛查预测IgA 肾病的分子标记。方法:本研究选取甘肃地区患IgA 肾病的汉族个体146 例、回族个体83 例作为实验组,另选取健康汉族个体180 例、健康回族个体100例作为对照组。采用聚合酶链反应鄄限制性片段长度多态性(Polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP) 方法以及PCR 产物基因测序法对单核苷酸多态性基因位点进行基因分型,采用卡方检验比较各基因型、等位基因在病例组和对照组中的分布差异,评价各基因型、等位基因与IgA 肾病发病风险的关系。结果: 汉族IgA 肾病患者rs1008898 位点的GG 基因型频率与健康对照组之间有统计学差异(OR=2.489,95CI:1.259 ~4.922,字2 =7.037,P =0.008),且G 等位基因可能增加患IgA 肾病的风险(OR = 1.268,95% CI:1.056 ~ 1.523,字2 = 6.709,P = 0.01)。回族IgA 肾病患者rs1008898 位点的多态性与健康对照组之间差异无统计学意义(P>0.05)。(3)rs2738081 位点多态性在汉族、回族IgA 肾病患者及其健康对照组之间的分布差异无统计学意义(P>0.05)。结论:rs1008898 位点G 等位基因可能增加甘肃地区汉族人群患IgA 肾病的风险。

Association between C1GALT1,DEFA polymorphisms and its susceptibility to IgA nephropathy in Chinese Han and Hui population in Gansu Province

Objective:To investigate the association between the C1GALT1 rs1008898,the DEFA rs2738081 polymorphisms and susceptibility to IgA nephropathy in Chinese Han and Hui population in area of Gansu Province and explore molecular markers to predict IgA nephropathy.Methods: In this study,there were 146 patients with IgAN and 180 normal controls in Han people and 83 patients with IgAN and 100 normal controls in Hui people.Two SNPs as rs1008898 and rs2738081 were analyzed with polymerase chain reaction-restriction fragment length polymorphism ( PCR-RFLP) and polymerase chain reaction-gene sequencing technology.The genotype and allele frequency of rs1008898 and rs2738081 were compared between patients with IgAN and normal controls.Results:Rs1008898 GG genotypes and G allele were over represented in IgAN patients compared with controls.Distribution of rs1008898 poly-morphism in patients with IgAN and normal controls showed no difference in Hui people.Neither Han nor Hui population,rs2738081 polymorphism had difference between IgAN patients and normal controls.Conclusion: The G allele of rs1008898 probably has correlation with the genetic susceptibility of IgAN in Gansu Han people.