Polymorphisms of <Emphasis Type="Italic">PTPN11</Emphasis> Coding SHP-2 as Biomarkers for Ulcerative Colitis Susceptibility in the Japanese Population |
| |
Authors: | Yukiko Narumi Hajime Isomoto Mizuho Shiota Kayoko Sato Shinji Kondo Haruhisa Machida Katsunori Yanagihara Yohei Mizuta Shigeru Kohno and Kazuhiro Tsukamoto |
| |
Institution: | (1) Department of Pharmacotherapeutics, Nagasaki University Graduate School of Biomedical Sciences, 1-14 Bunkyo-machi, Nagasaki 852-8521, Japan;(2) Second Department of Internal Medicine, Nagasaki University School of Medicine, Sakamoto 1-7-1, Nagasaki 852-8501, Japan;(3) AVSS, Co., Ltd., 1-22 Wakaba-machi, Nagasaki 852-8137, Japan |
| |
Abstract: | Objective To identify genetic determinants of inflammatory bowel disease (IBD), we examined an association between polymorphisms of
both the programmed cell death 1 gene (PDCD1) and the src homology 2 domain-containing tyrosine phosphatase 2 gene (PTPN11) and susceptibility to IBD.
Methods Study subjects comprised 114 patients with ulcerative colitis (UC), 83 patients with Crohn’s disease, and 200 healthy control
subjects. Five single nucleotide polymorphisms (SNPs) in PDCD1 and PTPN11 were detected by polymerase chain reaction restriction fragment length polymorphism. Subsequently, haplotypes composed of
the two SNPs in PTPN11 were constructed.
Results The frequencies of the Hap 1 haplotype and its homozygous Hap 1/Hap 1 diplotype of PTPN11 were significantly increased in UC patients compared to control subjects (P = 0.011 and P = 0.030, respectively). While no association was found for PDCD1 for UC or CD and none for PTPN11 for CD.
Conclusion
PTPN11 is a genetic determinant for the pathogenesis of UC, and haplotyping of PTPN11 may be useful as a genetic biomarker to identify high-risk individuals susceptible to UC. |
| |
Keywords: | PTPN11 polymorphisms ulcerative colitis candidate gene-based association study Japanese population |
本文献已被 SpringerLink 等数据库收录! |
|