C1GALTl基因多态性与维吾尔族IgA肾病易感性的关联性分析

Association between C1GALT1 gene and IgA nephropathy in Xinjiang Uyghur population

目的探讨β1,3-转移酶（C1GALTl）基因单核苷酸位点（SNP）rs9639031、rs5882115多态性与新疆维吾尔族IgA肾病（IgA ephropathy，IgAN）遗传易感性的关系。方法选取经肾活检明确诊断为IgAN的90例维吾尔族患者为实验组，以同期在同一医院体检的90例维吾尔族健康体检者作为对照组，2组的性别和年龄等相匹配。采集纳入研究对象的外周血，提取DNA，应用PCR法扩增C1GALT1因上2个SNP分别为rs9639031、rs5882115位点对应的基因片段；采用直接测序法检测2个SNP位点的基因型，分析rs9639031、rs5882115基因型及基因频率在2组间分布的差异，进一步分析C1GAT态性与IgAN发病的关系。结果（1）C1GALT1因SNPrs5882115中各基因型、等位基因频率在IgAN组与对照组的分布有显著性差异（基因型P=0．014，等位基因P=0．005）。IgAN组DI、Ⅱ型频率（32．2％、2．2％）较对照组（14．4％、1．1％）高，对照组DE）型频率（84．4％）较IgAN组（65．6％）高。单因素Logist回归分析显示，rs5882115多态性对IgAN患病风险可能有影响（P=0．005），携带DI基因型的患病风险为携带DD基因型的2．874倍（OR=2．874，95％CI=1．3756．007），而携带I等位基因的患病风险亦较携带D等位基因高（OR=2．469，95％CI=1．290～４.728）。（2）C1GALT1基因rs9639031中，IgAN组CC、CT、TT基因型及c、T等位基因频率分别为40．0％、42．2％、17．8％、61．1％、38．9％，对照组分别为32．2％、46．7oA、21．1％、55．6％、44．4％，但差异无统计学意义（P〉0．05）。结论C1GALTl基因上的SNP位点rs5882115多态性可能与维吾尔族IgAN发病风险有一定关系，但未发现C1GALT1基因上的SNP位点rs9639031多态性与维吾尔族IgAN发病风险的关联性。

revealed that the polymorphism of rs5882115 may be the risk factor of IgAN（P = 0. 005）, and the risk to IgAN of whom carried DI genotype of rs5882115 was 32. 874 times higher than the DD genotype （OR = 2. 874,95 ~ CI = 1. 375～6. 007）, and the risk to IgAN of whom carried I allele was also higher than the D allele （OR = 2. 469,95% CI = 1. 290~4. 728）. （2） In Rs9639031 of C1GALT1 gene, the CC, CT and TT genotype, and C and T allele frequencies in IgAN group respectively were 40. 0%, 42. 2 %, 17.8 %, 61.1% and 38.9 %, and those in control group were 32. 2%, 46. 7 %, 21.10%, 55.6 %and 44. 4% respectively,with the differences being not statistically significant between two groups（P 〉0. 05）. Conclusions The polymorphism of rs5882115 in C1GALT1 gene may be associated with the risk to IgAN,however, polymorphism of rs9639031 in C1GALT1 gene may be irrelevant to the risk of developing Uyghur IgAN.