title: C1GALT1 polymorphisms are associated with Henoch-Schönlein purpura nephritis.
abstract: BACKGROUND
  Henoch-Schönlein purpura nephritis (HSPN) is the most serious long-term complication of Henoch-Schönlein purpura and aberrant galactosylation of IgA1 plays a role in its development. However, the precise role of genetic factors contributing to the abnormal IgA1 galactosylation remains unknown.
  
  
  METHODS
  In order to examine the effects of C1GALT1 gene encoding core 1 β1,3-galactosyltransferase, an important role in the β1,3 glycosylation of IgA1, on HSPN susceptibility, we conducted a case-control association genetic study in 269 HSP and 61 HSPN in China. Five tagging SNPs, SNP1(-734 C/T), SNP4(-465A/G), SNP6(-330 G/T), SNP7(-292 C/-), and SNP8(1365 G/A) in C1GALT1 were studied using single-locus and haplotype-based multilocus analysis.
  
  
  RESULTS
  Our results demonstrated that 1365 G allele frequency was significantly higher in HSPN patients than in HSP patients without nephritis (0.459 vs 0.331, p = 0.0008, adjusted p' = 0.004) with an odds ratio (OR) = 1.716, 95%CI 1.151-2.560). The GG genotype of 1,365 G/A was significantly different in HSP without nephritis and HSPN (p = 0.008, adjusted p'' = 0.04). We did not observe statistically significant differences in haplotype frequencies between HSPN and HSP patients.
  
  
  CONCLUSIONS
  In conclusion, our study suggested that the 1365 G/A polymorphism of the C1GALT1 gene may contribute to HSPN development.
authors.affiliation: Wuhan Children's Hospital, No. 100 Hongkong Rd, Jiangan District, Wuhan, PR China. hxljm07@hotmail.com
authors.forename: Xuelian
authors.initials: X
authors.lastname: He
authors.forename: Peiwei
authors.initials: P
authors.lastname: Zhao
authors.forename: Shixiu
authors.initials: S
authors.lastname: Kang
authors.forename: Yan
authors.initials: Y
authors.lastname: Ding
authors.forename: Jiangwei
authors.initials: J
authors.lastname: Luan
authors.forename: Zhisheng
authors.initials: Z
authors.lastname: Liu
authors.forename: Yanxiang
authors.initials: Y
authors.lastname: Wu
authors.forename: Wei
authors.initials: W
authors.lastname: Yin
mesh_terms: D016022:Case-Control Studies; D002648:Child; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D011695:IgA Vasculitis / Q000150:complications / Q000235:genetics*; D008297:Male; D009393:Nephritis / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C505293:C1GALT1 protein, human; D005700:Galactosyltransferases