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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.
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1 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)
2 Rio de Janeiro State University (UERJ), Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro, Brazil (GRID:grid.412211.5)
3 Rio de Janeiro State University (UERJ), DNA Diagnostic Laboratory (LDD), Rio de Janeiro, Brazil (GRID:grid.412211.5)
4 Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil (GRID:grid.411204.2)
5 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)
6 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)
7 State University of Rio de Janeiro (UERJ), Diabetes Unit, Rio de Janeiro, Brazil (GRID:grid.412211.5)