Service of Endocrinology, University Hospital of the Federal University of Maranhão (HUUFMA/EBSERH), Rua Barão de Itapary, 227, Centro, São Luís, Maranhão, 65020-070, Brazil.
Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
Sci Rep. 2021 Jul 8;11(1):14157. doi: 10.1038/s41598-021-93691-x.
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-DRB103 and DRB104 alleles presented risk association with T1D. When the Y chromosome was European, DRB103 and DRB104 homozygote and DRB103/DRB104 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-DRB103 and DRB104 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.
本研究旨在探讨混合巴西人群 1 型糖尿病患者的常染色体和 Y 染色体标记推断的遗传祖先与 HLA 基因型之间的关系。进行了常染色体祖先推断;HLA-DRB1、-DQA1 和 -DQB1 定型;以及 Y 染色体分析。欧洲常染色体祖先约占 50%,其次是约 25%的非洲和美洲原住民。欧洲 Y 染色体占主导地位。HLA-DRB103 和 DRB104 等位基因与 T1D 呈风险关联。当 Y 染色体为欧洲型时,DRB103 和 DRB104 纯合子和 DRB103/DRB104 杂合子基因型最为常见。结果表明,马拉尼昂的个体以欧洲为主要成分;并且来自 R1b 单倍群的父系更为常见。HLA-DRB103 和 DRB104 等位基因的优势在我们的人群中赋予了更大的风险,并且与欧洲 Y 染色体的祖先更为相关,这表明在我们的人群中,T1D 的风险可以通过我们的混合祖先的欧洲祖先传播。然而,非洲和美洲原住民的 Y 染色体样本量较小,应该进行更大的混合样本量的进一步研究,以澄清这种可能的关联。