Internal Medicine: Open Access
Open Access
ISSN: 2165-8048
+44 1300 500008
ISSN: 2165-8048
+44 1300 500008
Bin Yan
China
Research Article
SNPs and Mutations in C1GALT1C1 Gene and the Susceptibility of Henoch Schonlein Purpura in a Chinese Population
Author(s): JinDan An, HongTao Zhao, HongWei Wang, Bin Yan, Tao Zhan and Hui Yue
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 obser.. View More»
DOI:
10.4172/2165-8048.1000208