{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T01:04:44Z","timestamp":1780103084476,"version":"3.54.0"},"reference-count":46,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,9,23]],"date-time":"2013-09-23T00:00:00Z","timestamp":1379894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Gastro and Hepatol"],"published-print":{"date-parts":[[2013,10]]},"abstract":"Abstract<\/jats:title>Background and Aim<\/jats:title>Recent genomic studies have identified genetic variants in the I<\/jats:italic><\/jats:styled-content>L12B<\/jats:italic><\/jats:styled-content> gene, which encodes the p40 subunit shared by interleukin 12 and interleukin 23, as susceptibility loci for inflammatory bowel disease (IBD<\/jats:styled-content>). The study aimed to identify additional novel genetic variants in IL12B<\/jats:italic><\/jats:styled-content> and investigated whether variants confer susceptibility to the development of C<\/jats:styled-content>rohn's disease (CD<\/jats:styled-content>) or ulcerative colitis (UC<\/jats:styled-content>) in the K<\/jats:styled-content>orean population.<\/jats:p><\/jats:sec>Methods<\/jats:title>To detect single nucleotide polymorphisms (SNP<\/jats:styled-content>s) in IL12B<\/jats:italic><\/jats:styled-content>, direct sequencing of all coding exons, exon\u2010intron boundaries, promoter region, and 5\u2032 untranslated region was performed in 24 randomly selected samples. Selected haplotype\u2010tagging SNP<\/jats:styled-content>s were subsequently genotyped in 493 IBD<\/jats:styled-content> patients (245 patients with CD<\/jats:styled-content> and 248 with UC<\/jats:styled-content>) and 504 healthy controls.<\/jats:p><\/jats:sec>Results<\/jats:title>Two haplotype\u2010tagging SNP<\/jats:styled-content>s (rs2288831 and rs919766) were selected through direct sequencing and were genotyped. Of them, SNP<\/jats:styled-content> rs2288831 in the IL12B<\/jats:italic><\/jats:styled-content> gene was significantly associated with CD<\/jats:styled-content> susceptibility in allelic association analysis (odds ratio\u2009=\u20091.30; 95% confidence interval 1.04\u20131.62; P<\/jats:styled-content><\/jats:italic>\u2009=\u20090.019). This significant association with CD<\/jats:styled-content> was also observed for a haplotype consisting of SNP<\/jats:styled-content> rs919766 and rs2288831 (odds ratio\u2009=\u20091.29; 95% confidence interval 1.03\u20131.60; P<\/jats:styled-content><\/jats:italic>\u2009=\u20090.025). However, none of IL12B<\/jats:italic> SNP<\/jats:styled-content>s were associated with UC<\/jats:styled-content> susceptibility. Finally, no specific associations between genetic variants and disease phenotype of CD<\/jats:styled-content> were identified.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>This study is first to identify SNP<\/jats:styled-content> rs2288831 in the IL12B<\/jats:italic><\/jats:styled-content> gene as a susceptible variation for CD<\/jats:styled-content>. Further studies in other ethnic groups are warranted to validate the association of this genetic variant with IBD<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jgh.12214","type":"journal-article","created":{"date-parts":[[2013,4,11]],"date-time":"2013-04-11T10:44:00Z","timestamp":1365677040000},"page":"1588-1594","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Genetic variants in the IL12B<\/i><\/scp> gene are associated with inflammatory bowel diseases in the K<\/scp>orean population"],"prefix":"10.1111","volume":"28","author":[{"given":"Chang Mo","family":"Moon","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Graduate School Yonsei University College of Medicine Seoul Korea"},{"name":"Department of Internal Medicine Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010Jik","family":"Shin","sequence":"additional","affiliation":[{"name":"Cardiovascular Genome Center Yonsei University College of Medicine Seoul Korea"},{"name":"Yonsei Cardiovascular Research Institute Yonsei University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nak\u2010Hoon","family":"Son","sequence":"additional","affiliation":[{"name":"Cardiovascular Genome Center Yonsei University College of Medicine Seoul Korea"},{"name":"Department of Biostatistics Yonsei University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun\u2010Soon","family":"Shin","sequence":"additional","affiliation":[{"name":"Bioinformatics DNA Link Inc. Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Pil","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Institute of Gastroenterology Yonsei University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae Il","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Graduate School Yonsei University College of Medicine Seoul Korea"},{"name":"Department of Internal Medicine and Institute of Gastroenterology Yonsei University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won Ho","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Graduate School Yonsei University College of Medicine Seoul Korea"},{"name":"Brain Korea 21 Project for Medical Science Yonsei University College of Medicine Seoul Korea"},{"name":"Department of 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