Anzeige
Erschienen in:
01.09.2012 | Original Article
C1GALT1 polymorphisms are associated with Henoch–Schönlein purpura nephritis
Erschienen in: Pediatric Nephrology | Ausgabe 9/2012
Einloggen, um Zugang zu erhaltenAbstract
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.