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http://purl.uniprot.org/citations/28333213http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28333213http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.org/dc/terms/identifier"doi:10.1093/ecco-jcc/jjx023"xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Han B."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Park S.H."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Oh H."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Lee H.S."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Song K."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Kim K.J."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Jung S."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Hong M."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Baek J."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Kim K.M."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Yang S.K."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Shin H.D."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/author"Ye B.D."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/name"J Crohns Colitis"xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/pages"820-830"xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/title"X Chromosome-wide Association Study Identifies a Susceptibility Locus for Inflammatory Bowel Disease in Koreans."xsd:string
http://purl.uniprot.org/citations/28333213http://purl.uniprot.org/core/volume"11"xsd:string
http://purl.uniprot.org/citations/28333213http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/28333213
http://purl.uniprot.org/citations/28333213http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/28333213
http://purl.uniprot.org/uniprot/#_Q15052-mappedCitation-28333213http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28333213
http://purl.uniprot.org/uniprot/#_A0A2X0SSH0-mappedCitation-28333213http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28333213
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