A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes.

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.

HLA Genotypes and Type 1 Diabetes and Its Relationship to Reported Race/Skin Color in Their Relatives: A Brazilian Multicenter Study.

We aimed to investigate the relationship between HLA alleles in patients with type 1 diabetes from an admixed population and the reported race/skin color of their relatives. This cross-sectional, multicenter study was conducted in public clinics in nine Brazilian cities and included 662 patients with type 1 diabetes and their relatives. Demographic data for patients and information on the race/skin color and birthplace of their relatives were obtained. Typing of the HLA-DRB1, -DQA1, and -DQB1 genes was performed. Most studied patients reported having a White relative (95.17%), and the most frequently observed allele among them was DRB1*03:01. Increased odds of presenting this allele were found only in those patients who reported having all White relatives. Considering that most of the patients reported having a White relative and that the most frequent observed allele was DRB1*03:01 (probably a European-derived allele), regardless of the race/skin color of their relatives, we conclude that the type 1 diabetes genotype comes probably from European, Caucasian ethnicity. However, future studies with other ancestry markers are needed to fill the knowledge gap regarding the genetic origin of the type 1 diabetes genotype in admixed populations such as the Brazilian.

Relationship among health-related quality of life and global ancestry, clinical and socioeconomic factors in type 1 diabetes in an admixed Brazilian population.

We aimed to evaluate the Health-related quality of life (HRQoL) of Type 1 diabetes mellitus (T1D) patients in an admixed Brazilian population. This is a cross-sectional study with 152 T1D patients. HRQoL information was obtained from two self-completed questionnaires: Short Form-6 dimensions and EuroQol-5 dimensions with visual analog scale. For inference of global ancestry, the panel of 46 autosomal informational insertion/deletion ancestry markers was used. Demographic and socioeconomic data, presence of chronic complications, glycemic control level, and type of treatment were obtained. Patients with good HRQoL were: male, under 18 years old, had health insurance, less than 5 years of diagnosis, practiced physical activity, without hypoglycemia in the last 30 days, absence of retinopathy and nephropathy, a participant in educational activities, used analogous insulin, monitoring blood glucose, observed maximum adherence to treatment and came from the secondary service. Global ancestry and self-reported color/race did not influence HRQoL indexes. Our study is the first to measure HRQoL, global ancestry and recognize the impact of T1D on the lives of patients in the State of Maranhão, Brazil. The results validate the need to provide T1D patients with continuous training on self-management and self-monitoring, aiming for better results in metabolic control and, subsequently, in the prevention of acute and chronic complications, in order to generate positive impacts on the quality of life of this population. We understand that global ancestry in a highly mixed population such as ours did not influence the HRQoL of these patients.