Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients
Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients
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DOI：
10.1007/s10038-007-0156-z
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发表时间：
2007-06-01
影响因子：
3.5
通讯作者：
Hata, Akira
中科院分区：
文献类型：
--
作者：
Yamazaki, Keiko;Onouchi, Yoshihiro;Hata, Akira
炎症性肠病、克罗恩病（CD）和溃疡性结肠炎的特征在于肠道的慢性透壁、节段性和典型的肉芽肿性炎症。每一种都有一个发病高峰年龄在第二至第四个十年的生活和患病率已显着增加，在西方国家和日本在过去的十年中，而他们的发病机制仍然在很大程度上是未知的。最近，通过全基因组关联研究报告了CD与白细胞介素23受体（IL 23 R），自噬相关16样1（ATG16 L1）基因和染色体5p13.1位点的变异的正相关性，该研究现在被认为是鉴定复杂疾病易感基因的强大工具。为了研究日本CD患者的三个基因座中报告的易感变异的相关性，共对484名CD患者和439名对照进行了基因分型。在日本人群中，即使使用CD的临床分层亚组，也没有发现任何这些位点与CD正相关的证据。我们的研究结果揭示了一个明显的种族差异的遗传背景的CD，我们以前报道的其他基因之间的日本人和高加索人群。需要进一步的遗传学研究来证实我们在不同种族人群中的发现。
Inflammatory bowel diseases, Crohn's disease (CD) and ulcerative colitis are characterised by chronic transmural, segmental and typically granulomatous inflammation of the gut. Each has a peak age of onset in the second to fourth decades of life and prevalence has been increasing significantly in both Western countries and Japan over the last decade, while their pathogenesis remains largely unknown. Recently, positive association of CD with the variants in interleukin 23 receptor (IL23R), autophagy-related 16-like 1 (ATG16L1) genes and chromosome 5p13.1 locus was reported through genome-wide association studies which are now recognised as a robust tool for the identification of susceptibility genes for complex diseases. To examine an association of reported susceptible variants in the three loci with Japanese CD patients, a total of 484 CD patients and 439 controls were genotyped. No evidence of positive association for any of these loci with CD was found in the Japanese population, even after clinically stratified subgroups of CD were used. Our result revealed a distinct ethnic difference of genetic background of CD that we reported previously in other genes between Japanese and Caucasian populations. Further genetic studies are required to confirm our findings with ethnically divergent populations.