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Strong Evidence of a Combination Polymorphism of the Tyrosine Kinase 2 Gene and the Signal Transducer and Activator of Transcription 3 Gene as a DNA-Based Biomarker for Susceptibility to Crohn's Disease in the Japanese Population.


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Title: Strong Evidence of a Combination Polymorphism of the Tyrosine Kinase 2 Gene and the Signal Transducer and Activator of Transcription 3 Gene as a DNA-Based Biomarker for Susceptibility to Crohn's Disease in the Japanese Population.
Authors: Sato, Kayoko / Shiota, Mizuho / Fukuda, Sayaka / Iwamoto, Eiko / Machida, Haruhisa / Inamine, Tatsuo / Kondo, Shinji / Yanagihara, Katsunori / Isomoto, Hajime / Mizuta, Yohei / Kohno, Shigeru / Tsukamoto, Kazuhiro
Issue Date: Nov-2009
Publisher: Springer Netherlands
Citation: Journal of clinical immunology, 29(6), pp.815-825; 2009
Abstract: OBJECTIVE: An association between susceptibility to inflammatory bowel disease (IBD) and polymorphisms of both the tyrosine kinase 2 gene (TYK2) and the signal transducer and activator of transcription 3 gene (STAT3) was examined in a Japanese population in order to identify the genetic determinants of IBD. METHODS: The study subjects comprised 112 patients with ulcerative colitis, 83 patients with Crohn's disease (CD), and 200 healthy control subjects. Seven tag single-nucleotide polymorphisms (SNPs) in TYK2 and STAT3 were detected by PCR-restriction fragment length polymorphism. RESULTS: The frequencies of a C allele and its homozygous C/C genotype at rs2293152 SNP in STAT3 in CD patients were significantly higher than those in control subjects (P = 0.007 and P = 0.001, respectively). Furthermore, out of four haplotypes composed of the two tag SNPs (rs280519 and rs2304256) in TYK2, the frequencies of a Hap 1 haplotype and its homozygous Hap 1/Hap1 diplotype were significantly higher in CD patients in comparison to those in control subjects (P = 0.023 and P = 0.024, respectively). In addition, the presence of both the C/C genotype at rs2293152 SNP in STAT3 and the Hap 1/Hap 1 diplotype of TYK2 independently contributes to the pathogenesis of CD and significantly increases the odds ratio to 7.486 for CD (P = 0.0008). CONCLUSION: TYK2 and STAT3 are genetic determinants of CD in the Japanese population. This combination polymorphism may be useful as a new genetic biomarker for the identification of high-risk individuals susceptible to CD.
Keywords: candidate gene-based association study / Crohn's disease / DNA-based biomarker / Japanese population / polymorphisms / STAT3 / TYK2
URI: http://hdl.handle.net/10069/22639
ISSN: 02719142
DOI: 10.1007/s10875-009-9320-x
PubMed ID: 19653082
Rights: © 2009 The Author(s). / The original publication is available at www.springerlink.com
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/22639

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