التفاصيل البيبلوغرافية
| العنوان: |
HLA-DQ and HLA-DRB1 alleles associated with Henoch-Schonlein purpura nephritis in Finnish pediatric population : a genome-wide association study |
| المؤلفون: |
Koskela, Mikael, Nihtilä, Julia, Ylinen, Elisa, Kolho, Kaija-Leena, Nuutinen, Matti, Ritari, Jarmo, Jahnukainen, Timo |
| المساهمون: |
Children's Hospital, HUS Children and Adolescents, University of Helsinki, Helsinki University Hospital Area, Clinicum, University Management |
| بيانات النشر: |
Springer |
| سنة النشر: |
2022 |
| المجموعة: |
Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto |
| مصطلحات موضوعية: |
Crohn's disease, Inflammatory bowel disease, Children, Genetics, IgA vasculitis, 3123 Gynaecology and paediatrics |
| الوصف: |
Background The pathophysiology of Henoch-Schonlein purpura (HSP) is still unclear, but several findings suggest that genetic factors may influence disease susceptibility. We aimed to perform a genome-wide association study (GWAS) in pediatric HSP patients with an emphasis on severe HSP nephritis. Methods The study included 46 HSP patients, 42 of whom had undergone kidney biopsy. Forty-nine pediatric patients with an inflammatory bowel disease (IBD) served as an autoimmune disease control group while Finnish bone marrow and blood donors represented the general reference population (n = 18,757). GWAS was performed for HSP and IBD samples in a case-control manner against the reference population. The analysis also included imputation of human leukocyte antigen (HLA) alleles. Results GWAS analysis in HSP revealed several polymorphisms from the HLA region that surpassed the genome-wide significance level. Three HLA class II alleles were also significantly more frequent in HSP than in the reference population: DQA1*01:01, DQB1*05:01, and DRB1*01:01. Haplotype DQA1*01:01/DQB1*05:01/DRB1*01:01 occurred in 43.5% of HSP patients, whereas its frequency was 8.2% in IBD patients and 15.0% in the reference population. HSP patients with this haplotype showed similar baseline clinical findings and outcome as HSP patients negative for the haplotype. In IBD patients, no polymorphism or HLA allele appeared significant at the genome-wide level. Conclusions Our results suggest that haplotype DQA1*01:01/DQB1*05:01/DRB1*01:01 is associated with susceptibility to HSP, but not with the severity of the kidney involvement. These HLA associations did not occur in IBD patients, suggesting that they are specific to HSP and not related to susceptibility to autoimmune diseases in general. ; Peer reviewed |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
This work was supported by a grant to M. K. from the Foundation for Pediatric Research, the Paivikki and Sakari Sohlberg Foundation, and the Alma and K.A. Snellman Foundation, Oulu, Finland. Open Access funding provided byUniversity of Helsinki including Helsinki University Central Hospital.; Koskela , M , Nihtilä , J , Ylinen , E , Kolho , K-L , Nuutinen , M , Ritari , J & Jahnukainen , T 2021 , ' HLA-DQ and HLA-DRB1 alleles associated with Henoch-Schonlein purpura nephritis in Finnish pediatric population : a genome-wide association study ' , Pediatric Nephrology , vol. 36 , no. 8 , pp. 2311-2318 . https://doi.org/10.1007/s00467-021-04955-7Test; ORCID: /0000-0001-9170-8415/work/108071242; ec2ce206-2e44-4e4c-9034-e0fe412af929; http://hdl.handle.net/10138/340177Test; 000618606500001 |
| الإتاحة: |
http://hdl.handle.net/10138/340177Test |
| حقوق: |
cc_by ; openAccess ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.C91B1090 |
| قاعدة البيانات: |
BASE |
