International Session(Workshop)2(JSGE・JGES・JSGCS)
Fri. November 3rd   9:30 - 12:00   Room 9: Portopia Hotel Main Building Kairaku 3
Genome-wide association analysis of eosinophilic gastrointestinal diseases in Japanese adults
Norihisa Ishimura1, Yasuhiro Fujiwara2, Fumihiko Matsuda3
1Department of Internal Medicine II, Shimane University Faculty of Medicine, 2Department of Gastroenterology and Hepatology, Osaka Metropolitan University, 3Center for Genomic Medicine, Kyoto University Graduate School of Medicine
Background: Eosinophilic gastrointestinal diseases (EGID), including eosinophilic esophagitis (EoE) and non-EoE EGID, are chronic inflammatory disorders of the gastrointestinal mucosa mediated by complex immune mechanisms. Several genetic susceptibility variants have been shown to contribute to EoE, such as 2p23 (CAPN14), though no genome-wide association study (GWAS) findings for EoE patients in Japan have been reported. In addition, genetic risk factors for non-EoE EGID remain to be elucidated. Here, we conducted GWASs of EoE and non-EoE EGID using Japanese adults.
Methods: Adult patients treated at 13 hospitals in Japan with EoE or non-EoE EGID were prospectively enrolled. GWASs were conducted with two patient groups; 1) EoE patients and the population control of whom were genotyped by Asian Screening Array (EoE GWAS), and 2) non-EoE EGID patients and the population control (non-EoE EGID GWAS).
Results: Single nucleotide polymorphism (SNP) genotyping was performed using SNP arrays for 347 EoE and 99 non-EoE EGID patients, and 3,665 residents of Nagahama City as a control. Obtained were 521,111 SNPs for the EoE GWAS and 491,144 SNPs for the non-EoE EGID GWAS. Although 6 modestly associated SNPs (P<1x10-5) were obtained in the EoE and 36 in the non-EoE EGID GWASs, none was found to be significantly associated with EGID (P<5x10-8).
Conclusion: In these initial genetic analyses of EoE and non-EoE EGID in Japanese patients, no specific genetic locus was identified.
Index Term 1: eosinophilic gastrointestinal disease
Index Term 2: genome-wide association study
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