Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population
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...
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| Format: | Article |
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Nature Portfolio
2021-07-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-021-93691-x |
| _version_ | 1818999127879450624 |
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| author | Rossana Santiago de Sousa Azulay Luís Cristóvão Porto Dayse Aparecida Silva Maria da Glória Tavares Roberta Maria Duailibe Ferreira Reis Gilvan Cortês Nascimento Sabrina da Silva Pereira Damianse Viviane Chaves de Carvalho Rocha Marcelo Magalhães Vandilson Rodrigues Paulo Ricardo Vilas Boas Carvalho Manuel dos Santos Faria Marília Brito Gomes |
| author_facet | Rossana Santiago de Sousa Azulay Luís Cristóvão Porto Dayse Aparecida Silva Maria da Glória Tavares Roberta Maria Duailibe Ferreira Reis Gilvan Cortês Nascimento Sabrina da Silva Pereira Damianse Viviane Chaves de Carvalho Rocha Marcelo Magalhães Vandilson Rodrigues Paulo Ricardo Vilas Boas Carvalho Manuel dos Santos Faria Marília Brito Gomes |
| author_sort | Rossana Santiago de Sousa Azulay |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T22:12:29Z |
| format | Article |
| id | doaj.art-9e07cd2fd17c4a5fbf6ede1f70337d66 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-20T22:12:29Z |
| publishDate | 2021-07-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-9e07cd2fd17c4a5fbf6ede1f70337d662022-12-21T19:25:08ZengNature PortfolioScientific Reports2045-23222021-07-0111111210.1038/s41598-021-93691-xGenetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian populationRossana Santiago de Sousa Azulay0Luís Cristóvão Porto1Dayse Aparecida Silva2Maria da Glória Tavares3Roberta Maria Duailibe Ferreira Reis4Gilvan Cortês Nascimento5Sabrina da Silva Pereira Damianse6Viviane Chaves de Carvalho Rocha7Marcelo Magalhães8Vandilson Rodrigues9Paulo Ricardo Vilas Boas Carvalho10Manuel dos Santos Faria11Marília Brito Gomes12Service of Endocrinology, University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH)Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ)DNA Diagnostic Laboratory (LDD), Rio de Janeiro State University (UERJ)Service of Endocrinology, University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH)Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM)Service of Endocrinology, University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH)Service of Endocrinology, University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH)Service of Endocrinology, University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH)Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM)Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM)Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ)Service of Endocrinology, University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH)Diabetes Unit, State University of Rio de Janeiro (UERJ)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.https://doi.org/10.1038/s41598-021-93691-x |
| spellingShingle | Rossana Santiago de Sousa Azulay Luís Cristóvão Porto Dayse Aparecida Silva Maria da Glória Tavares Roberta Maria Duailibe Ferreira Reis Gilvan Cortês Nascimento Sabrina da Silva Pereira Damianse Viviane Chaves de Carvalho Rocha Marcelo Magalhães Vandilson Rodrigues Paulo Ricardo Vilas Boas Carvalho Manuel dos Santos Faria Marília Brito Gomes Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population Scientific Reports |
| title | Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population |
| title_full | Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population |
| title_fullStr | Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population |
| title_full_unstemmed | Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population |
| title_short | Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population |
| title_sort | genetic ancestry inferred from autosomal and y chromosome markers and hla genotypes in type 1 diabetes from an admixed brazilian population |
| url | https://doi.org/10.1038/s41598-021-93691-x |
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