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. 2025 Jul 1;15(1):21659.
doi: 10.1038/s41598-025-05990-2.

Exploring the mitochondrial DNA ancestry of patients with type 1 diabetes from an admixed population of the Northeast of Brazil

Rossana Sousa Azulay  1   2 , Lívia Leite Ferreira  3 , Anna Beatriz Gonçalves  3 , Igor J Barbosa  3 , Vandilson Rodrigues  4 , Alexandre Nogueira Facundo  5   4 , Débora Lago  5   4 , Gilvan Cortês Nascimento  5   4 , Marcelo Magalhães  4 , Manuel Faria  5   4 , Andreia C Turchetto-Zolet  6 , Dayse A Silva  3 , Marília Brito Gomes  7
Affiliations

Exploring the mitochondrial DNA ancestry of patients with type 1 diabetes from an admixed population of the Northeast of Brazil

Rossana Sousa Azulay et al. Sci Rep. .

Abstract

Mitochondrial DNA is a stable genetic marker that can be used to investigate maternal ancestry. Some evidence suggests a potential link between specific mtDNA haplogroups and the emergence of certain diseases. Nevertheless, this correlation has yet to be investigated in patients with T1D. This study aimed to investigate the mitochondrial DNA (mtDNA) ancestry of patients with type 1 diabetes (T1D) and controls in an admixed Brazilian population. The study included 144 patients with T1D and 283 controls. The mtDNA analysis revealed that the most prevalent mtDNA category in both groups was Native American, followed by African. Furthermore, the study showed that the frequency of haplogroup L3 (African) was higher in the T1D group than in the control group, although this difference was not statistically significant after correction for multiple comparisons. The study findings indicate that the higher frequency of Native American and African mtDNA is consistent with historical information about the formation of the population in the State of Maranhão. This finding suggests that future investigations into the correlation between mtDNA and other genetic markers of T1D may offer insights into the etiology and pathogenesis of the disease in admixed populations, such as those in Brazil.

Keywords: Admixed population; Ancestry; Mitochondrial DNA; Type 1 diabetes.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests. Ethical approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the University Hospital of the Federal University of Maranhão (HUUFMA), under opinion number 59795116.9.0000.5086. All participants or their legal representatives were informed about the study’s objectives and procedures and signed the free and informed consent form.

Figures

Fig. 1
Fig. 1
Relative frequencies of mtDNA haplogroups in T1D (red bars) and control (blue bars) groups.
Fig. 2
Fig. 2
Percentage distribution of mtDNA ancestry categories between T1D and control groups.
Fig. 3
Fig. 3
Graphical representation of the phylogenetic networks of haplogroups of African, Asian, Native American, and European origin in the population of Maranhão. The green dots represent the haplogroups of Native American individuals, the red dots represent the haplogroups of African individuals; the blue dots represent the haplogroup of European individuals, and the yellow dots represent the haplogroup of Asian individuals.
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