C1GALT1基因变异与IgA肾病遗传易感性的相关性研究

目的 通过病例对照关联研究，研究分析C1GALT1和C1GALT1C1基因的单核苷酸多态性（single nucleotide polymorphisms，SNPs）与新疆地区维吾尔族人群IgA肾病（IgA nephropathy，IgAN）易感性之间的关联。方法 共选取1 014名受试者，其中包括595名IgAN患者和419名地理和民族匹配的健康对照者。选择C1GALT1中的 734C/T，-465A/G，-330G/T，-292C/-和1365G/A 5个SNPs作为标记SNP。结果 IgAN患者-292C/-的D等位基因和DD基因型显著低于对照组（P<0.01）。IgAN患者的单倍型YATIG（Y=C或T）频率显著低于对照组（0.0726 vs 0.1202，P=2.684×10-4，OR=0.68）。IgAN患者的单倍型YAGDA（0.1187 vs 0.0684，P=3.671×10-3，OR=1.72）和YATDG（0.0827 vs 0.0275，P=1.197×10-5，OR=2.87）显著高于对照组。结论 C1GALT1基因的变异与新疆地区维吾尔族IgAN遗传易感性相关。

Correlation between genetic variations of C1GALT1 gene and genetic susceptibility to IgA nephropathy

Objective To investigate the relationship between the single nucleotide polymorphisms (SNPs) of C1GALT1 and C1GALT1C1 genes and the susceptibility of IgA nephropathy (IgAN) in Xinjiang Uygur population through a case-control association study. Methods A total of 1 014 subjects were selected, including 595 IgAN patients and 419 geographically and ethnically matched healthy controls. Five SNPs, -734C/T, -465A/G, -330G/T, -292C/-, and 1365G/A in C1GALT1, were selected as marker SNPs. Results The D allele and DD genotype of -292C/-in IgAN patients were significantly lower than those in the control group (P<0.01). The frequency of haplotype YATIG (Y=C or T) was significantly lower than that of the control group (0.0726 vs 0.1202, P=2.684×10-4, OR=0.68). Patients with haplotype YAGDA (0.1187 vs 0.0684, P=3.671 × 10-3, OR = 1.72) and YATDG (0.0827 vs 0.0275, P = 1.197 × 10-5, OR = 2.87) were significantly higher than those in the control group. Conclusion This study suggests that the C1GALT1 gene polymorphism is associated with genetic susceptibility to IgAN in Xinjiang Uygur people.