Yamazaki Keiko, Takazoe Masakazu, Tanaka Torao, Ichimori Toshiki, Saito Susumu, Iida Aritoshi, Onouchi Yoshihiro, Hata Akira, Nakamura Yusuke
Laboratory of Molecular Medicine, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
Department of Medicine, Division of Gastroenterology, Social Insurance Central General Hospital, Tokyo, Japan.
J Hum Genet. 2004;49(12):664-668. doi: 10.1007/s10038-004-0204-x. Epub 2004 Oct 19.
Crohn disease (CD) is an inflammatory bowel disease characterized by chronic transmural, segmental, and typically granulomatous inflammation of the gut. Recently, two novel candidate gene loci associated with CD, SLC22A4 and SLC22A5 on chromosome 5 known as IBD5 and DLG5 on chromosome 10, were identified through association analysis of Caucasian CD patients. We validated these candidate genes in Japanese patients with CD and found a weak but possible association with both SLC22A4 (P=0.028) and DLG5 (P=0.023). However, the reported genetic variants that were indicated to be causative in the Caucasian population were completely absent in or were not associated with Japanese CD patients. These findings imply significant differences in genetic background with CD susceptibility among different ethnic groups and further indicate some difficulty of population-based studies.
克罗恩病（CD）是一种炎症性肠病，其特征为肠道的慢性透壁性、节段性，且通常为肉芽肿性炎症。最近，通过对白种人CD患者进行关联分析，确定了两个与CD相关的新候选基因座，分别是5号染色体上的SLC22A4和SLC22A5（称为IBD5）以及10号染色体上的DLG5。我们在日本CD患者中对这些候选基因进行了验证，发现SLC22A4（P = 0.028）和DLG5（P = 0.023）均有微弱但可能的关联。然而，在白种人群中被认为具有致病性的已报道基因变异在日本CD患者中完全不存在或与之无关。这些发现意味着不同种族之间在CD易感性的遗传背景上存在显著差异，也进一步表明了基于人群研究存在一定困难。
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