A1 Refereed original research article in a scientific journal
Tri-SNP polymorphism in the intron of HLA-DRA1 affects type 1 diabetes susceptibility in the Finnish population
Authors: Nygård Lucas, Laine Antti-Pekka, Kiviniemi Minna, Toppari Jorma, Härkönen Taina, Knip Mikael, Veijola Rittta, Lempainen Johanna, Ilonen Jorma
Publication year: 2021
Journal: Human Immunology
Journal name in source: Human immunology
Journal acronym: Hum Immunol
ISSN: 0198-8859
eISSN: 1879-1166
DOI: https://doi.org/10.1016/j.humimm.2021.07.010
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/66880315
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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