Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
Gastroenterology. 2016 Dec;151(6):1096-1099.e4. doi: 10.1053/j.gastro.2016.08.025. Epub 2016 Aug 26.
Recent genome-wide association studies have identified more than 200 regions that affect susceptibility to inflammatory bowel disease (IBD). However, identified common variants account for only a fraction of IBD heritability and largely have been identified in populations of European ancestry. We performed a genome-wide association study of susceptibility loci in Korean individuals, comprising a total of 1505 IBD patients and 4041 controls. We identified 2 new susceptibility loci for IBD at genome-wide significance: rs3766920 near PYGO2-SHC1 at 1q21 and rs16953946 in CDYL2 at 16q23. In addition, we confirmed associations, in Koreans, with 28 established IBD loci (P < 2.16 × 10). Our findings support the complementary value of genetic studies in different populations.
最近的全基因组关联研究已经确定了 200 多个影响炎症性肠病 (IBD)易感性的区域。然而，已确定的常见变异体仅占 IBD 遗传率的一小部分，并且主要是在欧洲血统人群中发现的。我们对韩国个体的易感基因座进行了全基因组关联研究，共包括 1505 名 IBD 患者和 4041 名对照。我们在全基因组范围内确定了 2 个新的 IBD 易感基因座：位于 1q21 附近的 PYGO2-SHC1 附近的 rs3766920 和位于 16q23 的 CDYL2 内的 rs16953946。此外，我们还在韩国人身上证实了与 28 个已建立的 IBD 基因座的关联（P < 2.16×10）。我们的研究结果支持了不同人群遗传研究的互补价值。
