Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations
DC Field | Value | Language |
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dc.contributor.author | Yang, Suk-Kyun | - |
dc.contributor.author | Hong, Myunghee | - |
dc.contributor.author | Zhao, Wanting | - |
dc.contributor.author | Jung, Yusun | - |
dc.contributor.author | Baek, Jiwon | - |
dc.contributor.author | Tayebi, Naeimeh | - |
dc.contributor.author | Kim, Kyung Mo | - |
dc.contributor.author | Ye, Byong Duk | - |
dc.contributor.author | Kim, Kyung-Jo | - |
dc.contributor.author | Park, Sang Hyoung | - |
dc.contributor.author | Lee, Inchul | - |
dc.contributor.author | Lee, Eun-Ju | - |
dc.contributor.author | Kim, Won Ho | - |
dc.contributor.author | Cheon, Jae Hee | - |
dc.contributor.author | Kim, Young-Ho | - |
dc.contributor.author | Jang, Byung Ik | - |
dc.contributor.author | Kim, Hyun-Soo | - |
dc.contributor.author | Choi, Jai Hyun | - |
dc.contributor.author | Koo, Ja Seol | - |
dc.contributor.author | Lee, Ji Hyun | - |
dc.contributor.author | Jung, Sung-Ae | - |
dc.contributor.author | Lee, Yeoun Joo | - |
dc.contributor.author | Jang, Joo Young | - |
dc.contributor.author | Shin, Hyoung Doo | - |
dc.contributor.author | Kang, Daehee | - |
dc.contributor.author | Youn, Hee-Shang | - |
dc.contributor.author | Liu, Jianjun | - |
dc.contributor.author | Song, Kyuyoung | - |
dc.date.accessioned | 2021-09-05T12:49:28Z | - |
dc.date.available | 2021-09-05T12:49:28Z | - |
dc.date.created | 2021-06-15 | - |
dc.date.issued | 2014-01 | - |
dc.identifier.issn | 0017-5749 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/99712 | - |
dc.description.abstract | Objective Crohn's disease (CD) is an intractable inflammatory bowel disease (IBD) of unknown cause. Recent meta-analysis of the genome-wide association studies (GWAS) and Immunochip data identified 163 susceptibility loci to IBD in Caucasians, however there are limited studies in other populations. Methods We performed a GWAS and two validation studies in the Korean population comprising a total of 2311 patients with CD and 2442 controls. Results We confirmed four previously reported loci: TNFSF15, IL23R, the major histocompatibility complex region, and the RNASET2-FGFR1OP-CCR6 region. We identified three new susceptibility loci at genome-wide significance: rs6856616 at 4p14 (OR=1.43, combined p=3.60x10(-14)), rs11195128 at 10q25 (OR=1.42, combined p=1.55x10(-10)) and rs11235667 at 11q13 (OR=1.46, combined p=7.15x10(-9)), implicating ATG16L2 and/or FCHSD2 as novel susceptibility genes for CD. Further analysis of the 11q13 locus revealed a non-synonymous single nucleotide polymorphism (SNP) (R220W/rs11235604) in the evolutionarily conserved region of ATG16L2 with stronger association (OR=1.61, combined p=2.44x10(-12)) than rs11235667, suggesting ATG16L2 as a novel susceptibility gene for CD and rs11235604 to be a potential causal variant of the association. Two of the three SNPs (rs6856616 (p=0.00024) and rs11195128 (p=5.32x10(-5))) showed consistent patterns of association in the International IBD Genetics Consortium dataset. Together, the novel and replicated loci accounted for 5.31% of the total genetic variance for CD risk in Koreans. Conclusions Our study provides new biological insight to CD and supports the complementary value of genetic studies in different populations. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | BMJ PUBLISHING GROUP | - |
dc.subject | INFLAMMATORY-BOWEL-DISEASE | - |
dc.subject | ULCERATIVE-COLITIS | - |
dc.subject | JAPANESE PATIENTS | - |
dc.subject | CELL DEVELOPMENT | - |
dc.subject | VARIANTS | - |
dc.subject | TNFSF15 | - |
dc.subject | POLYMORPHISMS | - |
dc.subject | AUTOPHAGY | - |
dc.subject | PROTEIN | - |
dc.subject | TBC1D1 | - |
dc.title | Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Choi, Jai Hyun | - |
dc.contributor.affiliatedAuthor | Koo, Ja Seol | - |
dc.identifier.doi | 10.1136/gutjnl-2013-305193 | - |
dc.identifier.scopusid | 2-s2.0-84889680996 | - |
dc.identifier.wosid | 000327835000009 | - |
dc.identifier.bibliographicCitation | GUT, v.63, no.1, pp.80 - 87 | - |
dc.relation.isPartOf | GUT | - |
dc.citation.title | GUT | - |
dc.citation.volume | 63 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 80 | - |
dc.citation.endPage | 87 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Gastroenterology & Hepatology | - |
dc.relation.journalWebOfScienceCategory | Gastroenterology & Hepatology | - |
dc.subject.keywordPlus | INFLAMMATORY-BOWEL-DISEASE | - |
dc.subject.keywordPlus | ULCERATIVE-COLITIS | - |
dc.subject.keywordPlus | JAPANESE PATIENTS | - |
dc.subject.keywordPlus | CELL DEVELOPMENT | - |
dc.subject.keywordPlus | VARIANTS | - |
dc.subject.keywordPlus | TNFSF15 | - |
dc.subject.keywordPlus | POLYMORPHISMS | - |
dc.subject.keywordPlus | AUTOPHAGY | - |
dc.subject.keywordPlus | PROTEIN | - |
dc.subject.keywordPlus | TBC1D1 | - |
dc.subject.keywordAuthor | Crohn&apos | - |
dc.subject.keywordAuthor | s Disease | - |
dc.subject.keywordAuthor | Genetic Polymorphisms | - |
dc.subject.keywordAuthor | IBD - Genetics | - |
dc.subject.keywordAuthor | Linkage Disequilibrium | - |
dc.subject.keywordAuthor | Inflammatory Bowel Disease | - |
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