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HLA class II genotyping of admixed Brazilian patients with type 1 diabetes according to self-reported color/race in a nationwide study.
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.
Afiliação
  • Santos DC; Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil. deborahconte@hotmail.com.
  • Porto LC; Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Oliveira RV; Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Secco D; Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Hanhoerderster L; Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Pizarro MH; Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Barros BSV; Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Mello LGN; Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Muniz LH; Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Silva DA; DNA Diagnostic Laboratory (LDD), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
  • Gomes MB; Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.
Sci Rep ; 10(1): 6628, 2020 04 20.
Article em En | MEDLINE | ID: mdl-32313169
ABSTRACT
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*0301~DQA1*0501 g~DQB1*0201 (OR 5.8, p < 0.00001) and HLA~DRB1*0701~DQA1*0201~DQB1*0202 (OR 0.54, p < 0.0001), respectively, regardless of self-reported color/race. Haplotypes HLA~DRB1*0301~DQA1*0501 g~DQB1*0201 and HLA~DRB1*0402~DQA1*0301 g~DQB1*0302 were more prevalent in the self-reported White group than in the Black group (p = 0.04 and p = 0.02, respectively). The frequency of haplotype HLA~DRB1*0901~DQA1*0301 g~DQB1*0202 was higher in individuals self-reported as Black than White (p = <0.00001). No difference between the Brazilian geographical regions was found. Individuals with T1D presented differences in frequencies of haplotypes within self-reported color/race, but the more prevalent haplotypes, regardless of self-reported color/race, were the ones described previously in Europeans. We hypothesize that, in the T1D population of Brazil, although highly admixed, the disease risk alleles come mostly from Europeans as a result of centuries of colonization and migration.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genes MHC da Classe II / Grupos Raciais / Diabetes Mellitus Tipo 1 / Autorrelato / Técnicas de Genotipagem Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genes MHC da Classe II / Grupos Raciais / Diabetes Mellitus Tipo 1 / Autorrelato / Técnicas de Genotipagem Idioma: En Ano de publicação: 2020 Tipo de documento: Article