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J Crohns Colitis. 2017 Jul 1;11(7):820-830. doi: 10.1093/ecco-jcc/jjx023.

X Chromosome-wide Association Study Identifies a Susceptibility Locus for Inflammatory Bowel Disease in Koreans.

Author information

1
Health Screening and Promotion Center, University of Ulsan College of Medicine, Seoul, Korea.
2
Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
3
Department of Gastroenterology, University of Ulsan College of Medicine, Seoul, Korea.
4
Department of Pediatrics, University of Ulsan College of Medicine, Seoul, Korea.
5
Department of Life Science, Sogang University, Seoul, Korea.
6
Department of Convergence Medicine, University of Ulsan College of Medicine & Asan Institute for Life Sciences, Seoul, Korea.

Abstract

Background and Aims:

Genome-wide association studies of inflammatory bowel disease identified > 200 susceptibility loci only in autosomes. This study aimed to identify inflammatory bowel disease susceptibility loci on the X chromosome.

Methods:

We performed an X chromosome-wide association study in Korean patients with inflammatory bowel disease. We analysed X chromosome data from our recent genome-wide association studies, including 1505 cases [922 Crohn's disease and 583 ulcerative colitis] and 4041 controls during the discovery phase, followed by replication in additional 1989 cases [993 Crohn's disease, 996 ulcerative colitis] and 3491 controls. Sex-related differential effects of single nucleotide polymorphisms on disease were also evaluated.

Results:

We confirmed a significant association of a previously reported inflammatory bowel disease susceptibility locus at chromosome Xq26.3 [CD40LG-ARHGEF6; odds ratio, 1.22; 95% confidence interval, 1.16-1.28; combined p = 3.79 × 10-15]. This locus accounted for 0.18% and 0.12% of genetic variance in Crohn's disease and ulcerative colitis, respectively, and increased the total autosomal chromosome genetic variance from 6.65% to 6.83% and from 5.47% to 5.59% for Crohn's disease and ulcerative colitis risk, respectively, in the Korean population. Sex-stratified analyses did not reveal sex-related differences in effect sizes.

Conclusions:

We confirmed the association of rs2427870 at the CD40LG-ARHGEF6 locus with an inflammatory bowel disease through an X chromosome-wide association study in a Korean population. Our data suggest that the CD40LG-ARHGEF6 locus on the X chromosome might play a role in inflammatory bowel disease pathogenesis in the Korean population.

KEYWORDS:

CD40LG-ARHGEF6; X chromosome; inflammatory bowel disease

PMID:
28333213
DOI:
10.1093/ecco-jcc/jjx023
[Indexed for MEDLINE]

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