PDF(Pubmed)
Abstract：
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.
摘要：
多基因与环境因素的相互作用可能与1型糖尿病（T1D）的发病有关。巴西人口来自不同的历史错杀事件，导致了一个高度多样化的基因库。本研究旨在分析T1D患者的mtDNA，并探讨是否存在母源关系，自我报告的颜色和T1D的存在。根据国际法医遗传学会（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。我们获得了美洲原住民母系起源的频率（43.6％），非洲血统（38.2%），和欧洲血统(18.1%)。对于自我声明的颜色，42.6%的糖尿病患者报告他们是白人，50.9%为棕色，5.4%是黑人。最后,当我们将自我声明数据与母亲祖先来源进行比较时，我们发现对于自称是怀特的人来说,美洲原住民的单倍群比例更高（50.6％）；对于自称为黑人的群体，非洲单倍群的比例更高(90.9%)；对于布朗组，美洲原住民和非洲单倍群的比例相似(42.3%和45.2%，分别)。患有糖尿病的巴西人口拥有超过80％的美洲原住民和非洲血统的母亲遗产，证实了这个国家的殖民历史。
