Ferreira Lívia Leite, Gonçalves Anna Beatriz Rodrigues, Adiala Igor Josué Barbosa, Loiola Silvia, Dias Alessandra, Azulay Rossana Sousa, Silva Dayse Aparecida, Gomes Marília Brito
DNA Diagnostic Laboratory, IBRAG, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Forensic Science and Technology Laboratory, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Diabetol Metab Syndr. 2024 Jun 15;16(1):130. doi: 10.1186/s13098-024-01342-8.
Interactions between multiple genes and environmental factors could be related to the pathogenesis of type 1 diabetes (T1D). The Brazilian population results from different historical miscegenation events, resulting in a highly diverse genetic pool. This study aimed to analyze the mtDNA of patients with T1D and to investigate whether there is a relationship between maternal ancestry, self-reported color and the presence of T1D. The mtDNA control region of 204 patients with T1D residing in three geographic regions of Brazil was sequenced following the International Society for Forensic Genetics (ISFG) recommendations. We obtained a frequency of Native American matrilineal origin (43.6%), African origin (38.2%), and European origin (18.1%). For self-declared color, 42.6% of the patients with diabetes reported that they were White, 50.9% were Brown, and 5.4% were Black. Finally, when we compared the self-declaration data with maternal ancestral origin, we found that for the self-declared White group, there was a greater percentage of haplogroups of Native American origin (50.6%); for the self-declared Black group, there was a greater percentage of African haplogroups (90.9%); and for the Brown group, there was a similar percentage of Native American and African haplogroups (42.3% and 45.2%, respectively). The Brazilian population with diabetic has a maternal heritage of more than 80% Native American and African origin, corroborating the country's colonization history.
多个基因与环境因素之间的相互作用可能与1型糖尿病（T1D）的发病机制有关。巴西人口源于不同的历史混血事件，形成了高度多样化的基因库。本研究旨在分析T1D患者的线粒体DNA（mtDNA），并调查母系血统、自我报告的肤色与T1D的存在之间是否存在关联。按照国际法医遗传学协会（ISFG）的建议，对居住在巴西三个地理区域的204例T1D患者的mtDNA控制区进行了测序。我们获得的母系血统频率为：美洲原住民血统（43.6%）、非洲血统（38.2%）和欧洲血统（18.1%）。对于自我报告的肤色，42.6%的糖尿病患者报告自己是白人，50.9%是棕色人种，5.4%是黑人。最后，当我们将自我报告数据与母系祖先血统进行比较时，我们发现，在自我报告为白人的群体中，美洲原住民血统单倍群的比例更高（50.6%）；在自我报告为黑人的群体中，非洲单倍群的比例更高（90.9%）；而在棕色人种群体中，美洲原住民和非洲单倍群的比例相似（分别为42.3%和45.2%）。患有糖尿病的巴西人群有超过80%的母系血统源自美洲原住民和非洲，这证实了该国的殖民历史。
