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Positive association of genetic variants in the upstream region of NXT2-3 with Crohn's disease in Japanese patients
  1. Keiko Yamazaki (kyama{at}src.riken.jp)
  1. The Institute of Physical and Chemical Research (RIKEN), Japan
    1. Atsushi Takahashi (taka{at}src.riken.jp)
    1. The Institute of Physical and Chemical Research (RIKEN), Japan
      1. Masakazu Takazoe
      1. Social Insurance Chuo General Hospital, Japan
        1. Michiaki Kubo (mkubo{at}src.riken.jp)
        1. The Institute of Physical and Chemical Research (RIKEN), Japan
          1. Yoshihiro Onouchi (onouchi{at}src.riken.jp)
          1. The Institute of Physical and Chemical Research (RIKEN), Japan
            1. Akihiro Fujino
            1. Keio University School of Medicine, Japan
              1. Naoyuki Kamatani
              1. The Institute of Physical and Chemical Research (RIKEN), Japan
                1. Yusuke Nakamura
                1. The University of Tokyo, Japan
                  1. Akira Hata (ahata{at}faculty.chiba-u.jp)
                  1. Chiba University Graduate School of Medicine, Japan

                    Abstract

                    Background: A number of genome-wide association (GWA) studies have been performed as a robust means of identifying susceptibility loci for Crohn's disease (CD). The loci detected after the completion of the HapMap project are quite concordant among these studies, suggesting that the results are reliable. Recently, the Wellcome Trust Case Control Consortium (WTCCC) reported the primary scanning of 17,000 individuals for seven diseases, including CD, and a subsequent study has validated these susceptible genetic variants in independent UK sample sets.

                    Aim: To study the possible association of the variants reported by WTCCC with CD in a Japanese population

                    Patients and Methods: A total of 484 patients with Crohn's disease and 470 healthy controls were examined. Seventeen genetic variants at eight newly identified loci, including IRGM, NKX2-3 and PTPN2, were genotyped using the TaqMan assay or the invader assay.

                    Results: We detected positive association signal presumably common to different ethnic groups for rs10883365 in the upstream region of NXT2-3 (p = 0.019 under the genotypic model, p = 0.0065 under the allelic model, p = 0.019 under the recessive model, p = 0.036 under the dominant model). In addition to rs10883365 , marginal associations for two SNPs were detected in Japanese population; rs6887695 near IL12B and rs10761659 on 10q21. Further genotype-phenotype analysis found a significant association between rs6887695 and pure ileal CD patients.

                    Conclusions: Our results indicate that the three loci are possible candidates for conferring susceptibility to Crohn's disease in people of different ethnicities.

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