Association of Endothelial Nitric Oxide Synthase Gene Polymorphism with Susceptibility and Nephritis Development of Henoch-Schönlein Purpura in Chinese Han Children.

Abstract

Henoch-Schönlein purpura (HSP) is the most common form of systemic small-vessel vasculitis in children. Previous studies suggested endothelial nitric oxide synthase (eNOS) plays an important role in the pathogenesis and clinical manifestations of HSP. This study aimed to investigate the potential association between 10 single-nucleotide polymorphisms (SNPs) within the eNOS gene and HSP risk and nephritis development in a Chinese Han population. A case-control study was conducted including 459 healthy children and 423 children with HSP. SNPs were genotyped by using the MassARRAY system. The genotypic frequency of rs11771443 was nominally associated with the risk of HSP (p = 0.010), and the C allele significantly increased the risk of HSP (p = 0.003, odds ratio [OR] = 1.331, confidence interval [95% CI] = 1.104-1.605). There was a significant difference in allelic and genotypic distribution of rs1799983 between children with HSP and healthy controls (p = 0.002 and 0.0001, respectively). Strong linkage disequilibrium was observed in two blocks. Significantly fewer T-A-G haplotypes (p = 0.0001, OR = 0.593, 95% CI = 0.448-0.786) were found in children with HSP. No significant association was identified between the 10 SNPs and the pathogenesis of HSP progression to HSP nephritis (HSPN). The polymorphisms of eNOS contribute to genetic susceptibility to HSP, but may have no effect on children with HSP progressing to HSPN.