|JinDan An1,2*, HongTao Zhao3, HongWei Wang2, Bin Yan2, Tao Zhan2 and Hui Yue1|
|1Key Laboratory of Cancer Prevention and Treatment of Heilongjiang Province, Mudanjiang Medical University, Mudanjiang, China|
|2Department of Pathology, Mudanjiang Medical University, Mudanjiang, China|
|3Department of physiopathology, Mudanjiang Medical University, Mudanjiang, China|
|Corresponding Author :||JinDan An
Department of Pathology, Mudanjiang Medical University
Aiminqu-Tongxiangjie 3, Mudanjiang 157011, China
E-mail: [email protected]
|Received: January 13, 2015 Accepted: December 14, 2015 Published: December 21, 2015|
|Citation: An JD, Zhao HT, Wang WH, Yan B, Zhan T, et al. (2015) SNPs and Mutations in C1GALT1C1 Gene and the Susceptibility of Henoch– Schonlein Purpura in a Chinese Population. InternMed 5:208. doi:10.4172/2165-8048.1000208|
|Copyright: © 2015 An J, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.|
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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.
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