Polymorphisms in intron 1 of HLA-DRA differentially associate with type 1 diabetes and celiac disease and implicate involvement of complement system genes C4A and C4B.

ABSTRACT: Polymorphisms in genes in the human leukocyte antigen (HLA) class II region comprise the most important inherited risk factors for many autoimmune diseases, including type 1 diabetes (T1D) and celiac disease (CD): both diseases are positively associated with the HLA-DR3 haplotype (DRB1*03:01-DQA1*05:01-DQB1*02:01). Studies of two different populations have recently documented that T1D susceptibility in HLA-DR3 homozygous individuals is stratified by a haplotype consisting of three single nucleotide polymorphisms ('tri-SNP') in intron 1 of the HLA-DRA gene. In this study, we use a large cohort from the longitudinal 'The Environmental Determinants of Diabetes in the Young' (TEDDY) study to further refine the tri-SNP association with T1D and with autoantibody-defined T1D endotyp

SUBMITTER: Aydemir O 

PROVIDER: S-EPMC12863718 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature