Tri-SNP polymorphism in the intron of HLA-DRA1 affects type 1 diabetes susceptibility in the Finnish population
Nygård, Lucas; Laine, Antti-Pekka; Kiviniemi, Minna; Toppari, Jorma; Härkönen, Taina; Knip, Mikael; Veijola, Riitta; Lempainen, Johanna; Ilonen, Jorma (2021-07-24)
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
© 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/).
https://creativecommons.org/licenses/by/4.0/
https://urn.fi/URN:NBN:fi-fe2022012510158
Tiivistelmä
Abstract
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.
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