HLA class II genotyping of admixed Brazilian patients with type 1 diabetes according to self-reported color/race in a nationwide study

• Published in: Scientific reports 2020-04, Vol.10 (1), p.6628-6628, Article 6628
• Main Authors: Santos, Deborah Conte, Porto, Luís Cristóvão, Oliveira, Romulo Vianna, Secco, Danielle, Hanhoerderster, Leonardo, Pizarro, Marcela Haas, Barros, Bianca S. V., Mello, Laura G. N., Muniz, Luiza Harcar, Silva, Dayse A., Gomes, Marília Brito
• Format: Article
• Language: English
• Subjects: 631/208/2489; 692/163/2743; Adult; Alleles; Bone marrow; Bone marrow transplantation; Brazil; Colonization; Continental Population Groups - genetics; Diabetes; Diabetes mellitus (insulin dependent); Diabetes Mellitus, Type 1 - genetics; DQA1 protein; Drb1 protein; Female; Genes, MHC Class II; Genotyping; Genotyping Techniques; Haplotypes; Haplotypes - genetics; Health risks; Histocompatibility antigen HLA; Humanities and Social Sciences; Humans; Male; Minority & ethnic groups; multidisciplinary; Population genetics; Risk Factors; Science; Science (multidisciplinary); Self Report
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-020-63322-y

The HLA region is responsible for almost 50% of the genetic risk of type 1 diabetes (T1D). However, haplotypes and their effects on risk or protection vary among different ethnic groups, mainly in an admixed population. We aimed to evaluate the HLA class II genetic profile of Brazilian individuals with T1D and its relationship with self-reported color/race. This was a nationwide multicenter study conducted in 10 Brazilian cities. We included 1,019 T1D individuals and 5,116 controls matched for the region of birth and self-reported color/race. Control participants belonged to the bone marrow transplant donor registry of Brazil (REDOME). HLA-class II alleles (DRB1, DQA1, and DQB1) were genotyped using the SSO and NGS methods. The most frequent risk and protection haplotypes were HLA~DRB1*03:01~DQA1*05:01   g~DQB1*02:01 (OR 5.8, p