Cited 149 times in
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 | 김원호 | - |
dc.contributor.author | 천재희 | - |
dc.date.accessioned | 2015-12-28T10:57:21Z | - |
dc.date.available | 2015-12-28T10:57:21Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 0017-5749 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/138384 | - |
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=3.60×10(-14)), rs11195128 at 10q25 (OR=1.42, combined p=1.55×10(-10)) and rs11235667 at 11q13 (OR=1.46, combined p=7.15×10(-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=2.44×10(-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=5.32×10(-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.description.statementOfResponsibility | open | - |
dc.format.extent | 80~87 | - |
dc.relation.isPartOf | GUT | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics* | - |
dc.subject.MESH | Autophagy-Related Proteins | - |
dc.subject.MESH | Carrier Proteins/genetics* | - |
dc.subject.MESH | Case-Control Studies | - |
dc.subject.MESH | Crohn Disease/ethnology | - |
dc.subject.MESH | Crohn Disease/genetics* | - |
dc.subject.MESH | Dual-Specificity Phosphatases/genetics | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | GTPase-Activating Proteins/genetics | - |
dc.subject.MESH | Genetic Markers | - |
dc.subject.MESH | Genetic Predisposition to Disease/ethnology* | - |
dc.subject.MESH | Genome-Wide Association Study* | - |
dc.subject.MESH | Genotyping Techniques | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Kruppel-Like Transcription Factors/genetics | - |
dc.subject.MESH | Logistic Models | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Membrane Proteins/genetics | - |
dc.subject.MESH | Odds Ratio | - |
dc.subject.MESH | Polymorphism, Single Nucleotide | - |
dc.subject.MESH | RNA Splicing Factors | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | SMN Complex Proteins/genetics | - |
dc.subject.MESH | Young Adult | - |
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.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학) | - |
dc.contributor.googleauthor | Suk Kyun Yang | - |
dc.contributor.googleauthor | Myunghee Hong | - |
dc.contributor.googleauthor | Wanting Zhao | - |
dc.contributor.googleauthor | Yusun Jung | - |
dc.contributor.googleauthor | Jiwon Baek | - |
dc.contributor.googleauthor | Naeimeh Tayebi | - |
dc.contributor.googleauthor | Kyung Mo Kim | - |
dc.contributor.googleauthor | Byong Duk Ye | - |
dc.contributor.googleauthor | Kyung Jo Kim | - |
dc.contributor.googleauthor | Sang Hyoung Park | - |
dc.contributor.googleauthor | Inchul Lee | - |
dc.contributor.googleauthor | Eun Ju Lee | - |
dc.contributor.googleauthor | Won Ho Kim | - |
dc.contributor.googleauthor | Jae Hee Cheon | - |
dc.contributor.googleauthor | Young Ho Kim | - |
dc.contributor.googleauthor | Byung Ik Jang | - |
dc.contributor.googleauthor | Hyun Soo Kim | - |
dc.contributor.googleauthor | Jai Hyun Choi | - |
dc.contributor.googleauthor | Ja Seol Koo | - |
dc.contributor.googleauthor | Ji Hyun Lee | - |
dc.contributor.googleauthor | Sung Ae Jung | - |
dc.contributor.googleauthor | Yeoun Joo Lee | - |
dc.contributor.googleauthor | Joo Young Jang | - |
dc.contributor.googleauthor | Hyoung Doo Shin | - |
dc.contributor.googleauthor | Daehee Kang | - |
dc.contributor.googleauthor | Hee Shang Youn | - |
dc.contributor.googleauthor | Jianjun Liu | - |
dc.contributor.googleauthor | Kyuyoung Song | - |
dc.identifier.doi | 10.1136/gutjnl-2013-305193 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00774 | - |
dc.contributor.localId | A04030 | - |
dc.relation.journalcode | J00953 | - |
dc.identifier.eissn | 1468-3288 | - |
dc.identifier.pmid | 23850713 | - |
dc.identifier.url | http://gut.bmj.com/content/63/1/80.long | - |
dc.subject.keyword | Crohn's Disease | - |
dc.subject.keyword | Genetic Polymorphisms | - |
dc.subject.keyword | IBD – Genetics | - |
dc.subject.keyword | Inflammatory Bowel Disease | - |
dc.subject.keyword | Linkage Disequilibrium | - |
dc.contributor.alternativeName | Kim, Won Ho | - |
dc.contributor.alternativeName | Cheon, Jae Hee | - |
dc.contributor.affiliatedAuthor | Kim, Won Ho | - |
dc.contributor.affiliatedAuthor | Cheon, Jae Hee | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 63 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 80 | - |
dc.citation.endPage | 87 | - |
dc.identifier.bibliographicCitation | GUT, Vol.63(1) : 80-87, 2014 | - |
dc.identifier.rimsid | 49142 | - |
dc.type.rims | ART | - |
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