Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy

Kidney Int. 2007 Mar;71(5):448-53. doi: 10.1038/ Epub 2007 Jan 17.


IgA nephropathy (IgAN) is a polygenic disorder and the precise role of genetic factors remains elusive. Increasing evidences have implicated the aberrant galactosylation of IgA1 molecules in the pathogenesis of IgAN. The galactosyltransferase, core 1 beta3-Gal-T, and its chaperone, Cosmc, play important roles in beta1,3 glycosylation of IgA1 molecule. A case-control association study was performed to investigate the association between single-nucleotide polymorphisms (SNPs) of C1GALT1 and C1GALT1C1 genes and the susceptibility to IgAN. A total of 1164 subjects were enrolled, including 670 IgAN patients and 494 geographically matched healthy controls. Five SNPs, -734C/T, -465A/G, -330G/T, -292C/-, and 1365G/A in C1GALT1 were selected as tagging SNPs. The D allele and DD genotype of -292C/- in IgAN patients were significantly lower than in the controls (P<0.01). The frequency of haplotype YATIG (Y=C or T) was significantly lower in patients than in controls (0.0719 vs 0.1168, P=2.775 x 10(-4), odds ratio (OR)=0.70). The haplotype YAGDA (0.1236 vs 0.0791, P=3.815 x 10(-3), OR=1.77) and YATDG (0.0840 vs 0.0298, P=1.258 x 10(-5), OR=3.03) were significantly higher in patients than in controls. The present study suggested that the polymorphisms of C1GALT1 gene were associated with the genetic susceptibility to IgAN in Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Asian Continental Ancestry Group / genetics
  • Child
  • Child, Preschool
  • Female
  • Galactosyltransferases / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Glomerulonephritis, IGA / genetics*
  • Glycosylation
  • Haplotypes
  • Humans
  • Immunoglobulin A / metabolism
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*


  • Immunoglobulin A
  • C1GALT1 protein, human
  • Galactosyltransferases