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SNPs and Mutations in C1GALT1C1 Gene and the Susceptibility of Henoch Schonlein Purpura in a Chinese Population

 JinDan An, HongTao Zhao, HongWei Wang, Bin Yan, Tao Zhan and Hui Yue

Background: Our group has found significant association between an SNP in C1GALT1 gene and the risk of Henoch–Schönlein purpura (HSP). Cosmc, encoded by C1GALT1C1 gene, is the chaperone of C1GALT1. We designed this study to investigate the association between the SNPs and mutations in C1GALT1C1 gene and the genetic susceptibility to HSP.
Methods: A total of unrelated 542 Northern Chinese, including 268 patients with HSP and 274 healthy controls were enrolled in the study. Three SNPs (rs17261572; rs5957424 and rs3810744) in C1GALT1C1 gene were analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP) for further case-control association analysis. Somatic mutations of DNAs from peripheral blood B lymphocytes were detected in 10 patients and 10 normal controls.
Results: Significant association was observed between different genotypes of rs17261572 A>T and HSP. People with TT genotype have lower risk of HSP compared with people with AA genotype (OR=0.46; 95% CI: 0.24-0.90, P=0.03). There was no somatic mutation detected in total 188 clones of 20 individuals. Conclusion: The C1GALT1C1 polymorphism was significantly related to the genetic susceptibility to HSP in Northern Chinese population. Further studies are warranted to validate our findings, and to investigate into its underlining mechanism.