Polymorphisms of PTPN11 Coding SHP-2 as Biomarkers for Ulcerative Colitis Susceptibility in the Japanese Population

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 sub...

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Bibliographic Details
Published in:Journal of clinical immunology 2009-05, Vol.29 (3), p.303-310
Main Authors: Narumi, Yukiko, Isomoto, Hajime, Shiota, Mizuho, Sato, Kayoko, Kondo, Shinji, Machida, Haruhisa, Yanagihara, Katsunori, Mizuta, Yohei, Kohno, Shigeru, Tsukamoto, Kazuhiro
Format: Article
Language:English
Subjects:
Adult
Antigens, CD - genetics
Apoptosis Regulatory Proteins - genetics
Biomarkers - metabolism
Biomedical and Life Sciences
Biomedicine
candidate gene-based association study
Colitis, Ulcerative - diagnosis
Colitis, Ulcerative - genetics
Colitis, Ulcerative - physiopathology
Crohn Disease - diagnosis
Crohn Disease - genetics
Crohn Disease - physiopathology
Female
Genetic Predisposition to Disease
Genetic Testing
Humans
Immunology
Infectious Diseases
Internal Medicine
Japan
Japanese population
Male
Medical Microbiology
Middle Aged
Polymorphism, Single Nucleotide
polymorphisms
Programmed Cell Death 1 Receptor
Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics
PTPN11
ulcerative colitis
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Summary: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.
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-008-9272-6