HLA-DQ and HLA-DRB1 alleles associated with Henoch-Schonlein purpura nephritis in Finnish pediatric population : a genome-wide association study

Show simple item record

dc.contributor.author Koskela, Mikael
dc.contributor.author Nihtilä, Julia
dc.contributor.author Ylinen, Elisa
dc.contributor.author Kolho, Kaija-Leena
dc.contributor.author Nuutinen, Matti
dc.contributor.author Ritari, Jarmo
dc.contributor.author Jahnukainen, Timo
dc.date.accessioned 2022-02-11T15:38:01Z
dc.date.available 2022-02-11T15:38:01Z
dc.date.issued 2021-08
dc.identifier.citation 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/s00467-021-04955-7
dc.identifier.other PURE: 161615230
dc.identifier.other PURE UUID: ec2ce206-2e44-4e4c-9034-e0fe412af929
dc.identifier.other WOS: 000618606500001
dc.identifier.other ORCID: /0000-0001-9170-8415/work/108071242
dc.identifier.uri http://hdl.handle.net/10138/340177
dc.description.abstract 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. en
dc.format.extent 8
dc.language.iso eng
dc.relation.ispartof Pediatric Nephrology
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject Crohn's disease
dc.subject Inflammatory bowel disease
dc.subject Children
dc.subject Genetics
dc.subject IgA vasculitis
dc.subject 3123 Gynaecology and paediatrics
dc.title HLA-DQ and HLA-DRB1 alleles associated with Henoch-Schonlein purpura nephritis in Finnish pediatric population : a genome-wide association study en
dc.type Article
dc.contributor.organization Children's Hospital
dc.contributor.organization HUS Children and Adolescents
dc.contributor.organization University of Helsinki
dc.contributor.organization Helsinki University Hospital Area
dc.contributor.organization Clinicum
dc.contributor.organization University Management
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1007/s00467-021-04955-7
dc.relation.issn 0931-041X
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

Files in this item

Total number of downloads: Loading...

Files Size Format View
Koskela2021_Art ... dHLA_DRB1AllelesAssoci.pdf 625.9Kb PDF View/Open

This item appears in the following Collection(s)

Show simple item record