Association of C1GALT1 gene polymorphisms with susceptibility and prognosis of IgA nephropathy on Uyghur population in Xinjiang Uyghur Autonomous Region / 中华肾脏病杂志

ABSTRACT

Objective To explore the genetic association of C1GALT1 gene polymorphisms with susceptibility and prognosis of IgA nephropathy (IgAN) on Uyghur population in Xinjiang Uyghur Autonomous Region.Methods Ninety Uighur patients with IgAN and ninety geographically and age matched healthy controls were recruited.Peripheral blood was collected from recruited individuals for DNA extracting.After amplified by polymerase chain reaction (PCR),genotyping of the four single nucleotide polymorphisms (SNPs) in C1GALT1 gene,which were rs9639031,rs5882115,rs1008898,-527A/G,were detected by direct sequencing analysis.Differences of allele and genotype frequency were analyzed between IgAN and healthy controls.Moreover,the association between these SNPs and the risk and progress in IgAN patients were further analyzed.Results (1) The I allele frequency of rs5882115 in C1GALT1 gene was significantly higher in IgAN than that in healthy controls （x2 =7.788,P =0.015),no difference in allele frequencies of rs9639031,rs1008898,-527A/G between IgAN and healthy controls was found.Under the dominant mode,the DI+ Ⅱ genotype frequencies of rs5882115 was significantly higher in IgAN than that in healthy controls (x2 =8.563,P =0.009),no difference in genotype frequencies of rs9639031,rs1008898,-527A/G between IgAN and healthy controls was found.Under the hidden mode,no difference in genotype frequencies of rs5882115,rs9639031,rs1008898,-527A/G between IgAN and healthy controls was found.Logistic single factor regression analysis showed that the risk to IgAN of whom carry I allele of rs5882115 was 2.469 times than the D allele (OR =2.469),and the risk to IgAN of whom carry DI+ Ⅱ genotype was also higher (OR =2.852).(3) No association was found between these SNPs in C1GALT1 gene and serum creatinine in IgAN.Conclusion Association between rs5882115 in C1GALT1 gene and Uighur IgAN susceptibility suggests that there may be variants in C1GALT1 gene or its linked genetic region,which needs further exploration.