Academic Journal

Case-case genome-wide association analysis identifying genetic loci with divergent effects on Crohn's disease and ulcerative colitis

التفاصيل البيبلوغرافية
العنوان: Case-case genome-wide association analysis identifying genetic loci with divergent effects on Crohn's disease and ulcerative colitis
المؤلفون: Jung, Seulgi, Kim, Yongjae, Park, Dohoon, Lee, Yoonho, Park, Sojung, Baek, Jiwon, Hwang, Sung Wook, Park, Sang Hyoung, Yang, Suk-Kyun, Ye, Byong Duk, Han, Buhm, Song, Kyuyoung, Lee, Ho-Su
المساهمون: Han, Buhm
بيانات النشر: Oxford University Press
سنة النشر: 2023
المجموعة: Seoul National University: S-Space
الوصف: Crohn's disease (CD) and ulcerative colitis (UC), two major subtypes of inflammatory bowel disease, show substantial differences in their clinical course and treatment response. To identify the genetic factors underlying the distinct characteristics of these two diseases, we performed a genome-wide association study (GWAS) between CD (n = 2359) and UC (n = 2175) in a Korean population, followed by replication in an independent sample of 772 CD and 619 UC cases. Two novel loci were identified with divergent effects on CD and UC: rs9842650 in CD200 and rs885026 in NCOR2. In addition, the seven established susceptibility loci [major histocompatibility complex (MHC), TNFSF15, OTUD3, USP12, IL23R, FCHSD2 and RIPK2] reached genome-wide significance. Of the nine loci, six (MHC, TNFSF15, OTUD3, USP12, IL23R and CD200) were replicated in the case-case GWAS of European populations. The proportion of variance explained in CD-UC status by polygenic risk score analysis was up to 22.6%. The area under the receiver-operating characteristic curve value was 0.74, suggesting acceptable discrimination between CD and UC. This CD-UC GWAS provides new insights into genetic differences between the two diseases with similar symptoms and might be useful in improving their diagnosis and treatment. ; N ; 1
نوع الوثيقة: article in journal/newspaper
اللغة: unknown
تدمد: 0964-6906
Relation: Human Molecular Genetics, Vol.32 No.4, pp.677-684; https://hdl.handle.net/10371/191460; 000872303000001; 2-s2.0-85147389845; 180695
DOI: 10.1093/hmg/ddac241
الاتاحة: https://hdl.handle.net/10371/191460
https://doi.org/10.1093/hmg/ddac241
رقم الانضمام: edsbas.AD7682BB
قاعدة البيانات: BASE
الوصف
تدمد:09646906
DOI:10.1093/hmg/ddac241