دورية أكاديمية
أعرض في EDS

Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B*46:01 for its intestinal involvement.

التفاصيل البيبلوغرافية
العنوان: Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B*46:01 for its intestinal involvement.
المؤلفون: Jung ES; Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, South Korea; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany., Ellinghaus D; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany. Electronic address: d.ellinghaus@ikmb.uni-kiel.de., Degenhardt F; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany., Meguro A; Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Khor SS; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan., Mucha S; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany., Wendorff M; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany., Juzenas S; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany; Institute of Biotechnology, Life Science Centre, Vilnius University, Vilnius, Lithuania., Mizuki N; Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tokunaga K; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan., Kim SW; Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, South Korea., Lee MG; Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, South Korea., Schreiber S; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany., Kim WH; Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, South Korea., Franke A; Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany., Cheon JH; Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, South Korea. Electronic address: geniushee@yuhs.ac.
المصدر: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver [Dig Liver Dis] 2024 Jun; Vol. 56 (6), pp. 994-1001. Date of Electronic Publication: 2023 Nov 17.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 100958385 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-3562 (Electronic) Linking ISSN: 15908658 NLM ISO Abbreviation: Dig Liver Dis Subsets: MEDLINE
أسماء مطبوعة: Publication: 2003- : Amsterdam : Elsevier
Original Publication: Roma, Italy : Editrice gastroenterologica italiana, c2000-
مواضيع طبية MeSH: Behcet Syndrome*/genetics , Genome-Wide Association Study* , Genetic Predisposition to Disease*, Humans ; Female ; Male ; Adult ; Republic of Korea ; Turkey ; Case-Control Studies ; Semaphorins/genetics ; Polymorphism, Single Nucleotide ; HLA-B Antigens/genetics ; Alleles ; Middle Aged ; Intestinal Diseases/genetics ; Genotype ; Japan
مستخلص: Background: Intestinal involvement in Behçet's disease (BD) is associated with poor prognosis and is more prevalent in East Asian than in Mediterranean populations. Identifying the genetic causes of intestinal BD is important for understanding the pathogenesis and for appropriate treatment of BD patients.
Methods: We performed genome-wide association studies (GWAS) and imputation/replication genotyping of human leukocyte antigen (HLA) alleles for 1,689 Korean and Turkish patients with BD (including 379 patients with intestinal BD) and 2,327 healthy controls, followed by replication using 593 Japanese patients with BD (101 patients with intestinal BD) and 737 healthy controls. Stratified cross-phenotype analyses were performed for 1) overall BD, 2) intestinal BD, and 3) intestinal BD without association of overall BD.
Results: We identified three novel genome-wide significant susceptibility loci including NPHP4 (rs74566205; P=1.36 × 10 -8 ), TYW1-AUTS2 (rs60021986; P=1.14 × 10 -9 ), and SEMA6D (rs4143322; P=5.54 × 10 -9 ) for overall BD, and a new association with HLA-B*46:01 for intestinal BD (P=1.67 × 10 -8 ) but not for BD without intestinal involvement. HLA peptide binding analysis revealed that Mycobacterial peptides, have a stronger binding affinity to HLA-B*46:01 compared to the known risk allele HLA-B*51:01.
Conclusions: HLA-B*46:01 is associated with the development of intestinal BD; NPHP4, TYW1-AUTS2, and SEMA6D are susceptibility loci for overall BD.
Competing Interests: Conflicts of interest No potential conflict of interest relevant to this article was reported.
(Copyright © 2023 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)
فهرسة مساهمة: Keywords: Behçet's disease; Genome-wide association study; HLA-B*46:01; Intestinal Behçet's disease
المشرفين على المادة: 0 (Semaphorins)
0 (HLA-B Antigens)
تواريخ الأحداث: Date Created: 20231117 Date Completed: 20240526 Latest Revision: 20240603
رمز التحديث: 20240603
DOI: 10.1016/j.dld.2023.10.021
PMID: 37977914
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-3562
DOI:10.1016/j.dld.2023.10.021