Abstract

This study aimed to investigate the relationship between genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in patients with Type 1 Diabetes from an admixed Brazilian population. Inference of autosomal ancestry; HLA-DRB1, -DQA1 and -DQB1 typifications; and Y chromosome analysis were performed. European autosomal ancestry was about 50%, followed by approximately 25% of African and Native American. The European Y chromosome was predominant. The HLA-DRB1*03 and DRB1*04 alleles presented risk association with T1D. When the Y chromosome was European, DRB1*03 and DRB1*04 homozygote and DRB1*03/DRB1*04 heterozygote genotypes were the most frequent. The results suggest that individuals from Maranhão have a European origin as their major component; and are patrilineal with greater frequency from the R1b haplogroup. The predominance of the HLA-DRB1*03 and DRB1*04 alleles conferring greater risk in our population and being more frequently related to the ancestry of the European Y chromosome suggests that in our population, the risk of T1D can be transmitted by European ancestors of our process miscegenation. However, the Y sample sizes of Africans and Native Americans were small, and further research should be conducted with large mixed sample sizes to clarify this possible association.

Details

Title
Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population
Author
Azulay Rossana Santiago de Sousa 1 ; Porto, Luís Cristóvão 2 ; Silva, Dayse Aparecida 3 ; Tavares Maria da Glória 1 ; Reis Roberta Maria Duailibe Ferreira 4 ; Nascimento, Gilvan Cortês 1 ; Damianse Sabrina da Silva Pereira 1 ; Rocha Viviane Chaves de Carvalho 1 ; Magalhães Marcelo 5 ; Rodrigues Vandilson 4 ; Carvalho Paulo Ricardo Vilas Boas 2 ; dos Santos, Faria Manuel 6 ; Gomes, Marília Brito 7 

 University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH), Service of Endocrinology, São Luís, Brazil (GRID:grid.411204.2) (ISNI:0000 0001 2165 7632); Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil (GRID:grid.411204.2) 
 Rio de Janeiro State University (UERJ), Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro, Brazil (GRID:grid.412211.5) 
 Rio de Janeiro State University (UERJ), DNA Diagnostic Laboratory (LDD), Rio de Janeiro, Brazil (GRID:grid.412211.5) 
 Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil (GRID:grid.411204.2) 
 Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil (GRID:grid.411204.2); Clinical Research Center of the University Hospital of the Federal University of Maranhão (CEPEC – HUUFMA), São Luís, Brazil (GRID:grid.411204.2) (ISNI:0000 0001 2165 7632) 
 University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH), Service of Endocrinology, São Luís, Brazil (GRID:grid.411204.2) (ISNI:0000 0001 2165 7632); Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil (GRID:grid.411204.2); Clinical Research Center of the University Hospital of the Federal University of Maranhão (CEPEC – HUUFMA), São Luís, Brazil (GRID:grid.411204.2) (ISNI:0000 0001 2165 7632) 
 State University of Rio de Janeiro (UERJ), Diabetes Unit, Rio de Janeiro, Brazil (GRID:grid.412211.5) 
Publication year
2021
Publication date
2021
Publisher
Nature Publishing Group
e-ISSN
20452322
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2549478239
Copyright
© The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.