A Genome-Wide Association Study Identifies 2 Susceptibility Loci for Crohn%26apos;s Disease in a Japanese Population

作者：Yamazaki Keiko; Umeno Junji; Takahashi Atsushi; Hirano Atsushi; Johnson Todd Andrew; Kumasaka Natsuhiko; Morizono Takashi; Hosono Naoya; Kawaguchi Takaaki; Takazoe Masakazu; Yamada Tetsuhiro; Suzuki Yasuo; Tanaka Hiroki; Motoya Satoshi; Hosokawa Masayo; Arimura Yoshiaki; Shinomura Yasuhisa; Matsui Toshiyuki; Matsumoto Takayuki; Iida Mitsuo; Tsunoda Tatsuhiko; Nakamura Yusuke; Kamatani Naoyuki; Kubo Michiaki^*

来源：Gastroenterology, 2013, 144(4): 781-788.

DOI：10.1053/j.gastro.2012.12.021

• Inflammatory Bowel Disease
• GWAS
• Polymorphism
• CD

BACKGROUND %26 AIMS: Crohn%26apos;s disease is an inflammatory bowel disease induced by multiple genetic and environmental factors. Genome-wide association studies have identified genetic factors that affect the risk for Crohn%26apos;s disease in European populations, but information from other ethnic groups is scarce. We therefore investigated genetic factors associated with Crohn%26apos;s disease in the Japanese population. METHODS: We performed a genome-wide association study with 372 individuals with Crohn%26apos;s disease (cases) and 3389 controls, all from the Japanese population. To confirm identified associations, we performed a replication study with an independent panel of 1151 Crohn%26apos;s disease cases and 15,800 controls. We also performed an association analysis using genome-wide genotype imputation in the discovery cohort. RESULTS: We confirmed associations of Crohn%26apos;s disease with variants in MHC (rs7765379, P = 2.11 X 10(-59)), TNFSF15 (rs6478106, P = 3.87 X 10(-45)), and STAT3 (rs9891119, P = 2.24 X 10(-14)). We identified 2 new susceptibility loci: on chromosome 4p14 (rs1487630, P = 2.40 X 10(-11); odds ratio, 1.33), and in the SLC25A15 ELF1-WBP4 region on 13q14 (rs7329174 in ELF1, P = 5.12 X 10(-9); odds ratio, 1.27). CONCLUSIONS: In a genome-wide association study, we identified 2 new susceptibility loci for Crohn%26apos;s disease in a Japanese population. These findings could increase our understanding of the pathogenesis of Crohn%26apos;s disease.

• 出版日期2013-4
• 单位河北医科大学