C1GALT1基因变异与IgA肾病遗传易感性的相关性研究

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

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 vs0. 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。

Objective To investigate the relationship between the single nueleotide polymorphisms （SNPs） of C1GALT1 and C1GALT1C1 genes and the susceptibility of IgA nephropathy （IgAN） in Xinjiang Uygur population through a ease-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 frequeney 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 higher than those in the control group. Conclusion This study suggests 2. 87 ） were significantly that the C1GALT1 gene polymorphism is associated with genetic susceptibility to IgAN in Xinjiang Uygur people.