Lucas Nygård, Antti-Pekka Laine, Minna Kiviniemi, Jorma Toppari, Taina Härkönen, Mikael Knip, Riitta Veijola, Johanna Lempainen, Jorma Ilonen, Tri-SNP polymorphism in the intron of HLA-DRA1 affects type 1 diabetes susceptibility in the Finnish population, Human Immunology, Volume 82, Issue 12, 2021, Pages 912-916, ISSN 0198-8859, https://doi.org/10.1016/j.humimm.2021.07.010
Tri-SNP polymorphism in the intron of HLA-DRA1 affects type 1 diabetes susceptibility in the Finnish population
|Author:||Nygård, Lucas1,2; Laine, Antti-Pekka1; Kiviniemi, Minna1;|
1Immunogenetics Laboratory, Institute of Biomedicine, University of Turku, Turku, Finland
2Faculty of Science and Engineering, Cell Biology, Åbo Akademi, Turku, Finland
3Department of Pediatrics, University of Turku and Turku University Hospital, Turku, Finland
4Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, and Centre for Population Health Research, University of Turku, Turku, Finland
5Children’s Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
6Pediatric Research Center, Children’s Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
7Tampere Center for Child Health Research, Tampere University Hospital, Tampere, Finland
8Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland
9Department of Paediatrics, PEDEGO Research Unit, Medical Research Center, University of Oulu, Oulu, Finland
|Online Access:||PDF Full Text (PDF, 0.3 MB)|
|Persistent link:|| http://urn.fi/urn:nbn:fi-fe2022012510158
|Publish Date:|| 2022-01-25
Genes in the HLA class II region include the most important inherited risk factors for type 1 diabetes (T1D) although also polymorphisms outside the HLA region modulate the predisposition to T1D. This study set out to confirm a recent observation in which a novel expression quantitative trait locus was formed by three single nucleotide polymorphisms (SNP) in the intron of HLA-DRA1 in DR3-DQ2 haplotypes. The SNPs significantly increased the risk for T1D in DR3-DQ2 homozygous individuals and we intended to further explore this association, in the Finnish population, by comparing two DR3-DQ2 positive genotypes. Cohorts with DR3-DQ2/DR3-DQ2 (N = 570) and DR3-DQ2/DR1-DQ5 (N = 1035) genotypes were studied using TaqMan analysis that typed for rs3135394, rs9268645 and rs3129877. The tri-SNP haplotype was significantly more common in cases than controls in the DR3-DQ2/DR3-DQ2 cohort (OR = 1.70 CI 95% = 1.15–2.51P = 0.007). However, no significant associations could be observed in the DR3-DQ2/DR1-DQ5 cohort.
|Pages:||912 - 916|
|Type of Publication:||
A1 Journal article – refereed
|Field of Science:||
3121 General medicine, internal medicine and other clinical medicine
This work was supported by the Sigrid Jusélius Foundation, the Academy of Finland, and the JDRF.
© 2021 The Authors. Published by Elsevier Inc. on behalf of American Society for Histocompatibility and Immunogenetics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).