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Polymorphisms of PTPN11 coding SHP-2 as biomarkers for ulcerative colitis susceptibility in the Japanese population.


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Title: Polymorphisms of PTPN11 coding SHP-2 as biomarkers for ulcerative colitis susceptibility in the Japanese population.
Authors: Narumi, Yukiko / Isomoto, Hajime / Shiota, Mizuho / Sato, Kayoko / Kondo, Shinji / Machida, Haruhisa / Yanagihara, Katsunori / Mizuta, Yohei / Kohno, Shigeru / Tsukamoto, Kazuhiro
Issue Date: May-2009
Publisher: Springer Netherlands
Citation: Journal of clinical immunology, 29(3), pp.303-310; 2009
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: Candidate gene-based association study / Japanese population / Polymorphisms / PTPN11 / Ulcerative colitis
URI: http://hdl.handle.net/10069/22204
ISSN: 02719142
DOI: 10.1007/s10875-008-9272-6
PubMed ID: 19160029
Rights: © 2009 Springer Science+Business Media, LLC. / The original publication is available at www.springerlink.com
Type: Journal Article
Text Version: author
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/22204

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