ST6GALNAC2基因多态性与维吾尔族IgA肾病易感性的关系

Relationship between polymorphism of ST6GALNAC2 gene and the susceptibility to IgA nephropathy in Xinjiang Uygur population

目的 探讨ST6GALNAC2基因rs3840858、rs2304921多态性与新疆维吾尔族IgA肾病（IgA nephropathy,IgAN）遗传易感性的关系。方法 180例IgAN患者（IgAN组）与180例体检健康者（对照组）,采用直接测序法检测ST6GALNAC2基因单核苷酸多态性位点rs3840858、rs2304921基因型,分析ST6GALNAC2多态性与IgAN的关系。结果 IgAN组ST6GALNAC2基因rs3840858位点DD、DI基因型频率（82.2%、17.8%）,D、I等位基因频率（91.9%、8.9%）与对照组（94.4%、5.6%、97.2%、2.8%）比较差异有统计学意义（P〈0.01）;单因素logistic回归分析显示,rs3840858多态性对IgAN患病风险可能有影响,DI基因型者的患病风险为DD基因型者的3.676倍（OR=3.676,95%CI：1.284~10.519,P=0.015）,携带I等位基因者的患病风险是携带D等位基因者的3.415倍（OR=3.415,95%CI：1.223~9.531,P=0.019）;2组ST6GALNAC2基因rs2304921基因型及等位基因频率比较差异均无统计学意义（P〉0.05）。结论 ST6GALNAC2基因rs3840858多态性可能与IgAN患病风险有关,rs2304921多态性可能与IgAN患病风险无关。

Objective To explore the relationship of the polymorphism of ST6GALNAC2 gene rs3840858 and rs2304921 with the susceptibility to IgA nephropathy in Xinjiang Uygur population. Methods The polymorphism distribution of ST6GALNAC2 gene rs3840858 and rs2304921 were detected by direct sequencing analysis in 180 IgA nephropathy （IgAN group） and 180 health volunteers （control group） to analyze the relationship between ST6GALNAC2 polymorphism and IgA nephropathy. Results The frequencies of DD and DI of ST6GALNAC2 gene rs3840858, and D and I allele frequencies showed significant differences between IgAN group （82. 2%, 17.8M, 91. 9%, 8. 9%） and control group （94.4%, 5.6%, 97.2%, 2.8%） （P〈0.01）. Logistic univariate regression analysis showed that the polymorphism of rs3840858 might be a risk factor for IgA nephropathy. The risk for IgA nephropathy in those carrying DI genotype was 3. 676 times as the risk in those carrying DD genotype （OR=3. 676, 95%CI： 1. 284 to 10. 519, P=0. 015）, and the risk for IgA nephropathy in those carrying I allele was 3. 415 times as the risk in those carrying D allele （OR=3. 415, 95%CI： 1. 223 to 9. 531, P = 0. 019）. There were no significant differences in the genotypes and allele frequencies of ST6GALNAC2 gene rs2304921 between two groups （P〉0.05）. Conclusion The polymorphism of ST6GALNAC2 gene rs3840858 may be associated with IgA nephropathy, and rs2304921 polymorphism may be not correlated with IgA nephropathy.