Azulay Rossana Sousa, Ferreira Lívia Leite, Gonçalves Anna Beatriz, Barbosa Igor J, Rodrigues Vandilson, Facundo Alexandre Nogueira, Lago Débora, Nascimento Gilvan Cortês, Magalhães Marcelo, Faria Manuel, Turchetto-Zolet Andreia C, Silva Dayse A, Gomes Marília Brito
Endocrinology Unit, University Hospital of the Federal University of Maranhão/EBSERH, São Luís, Brazil.
Research Group in Clinical and Molecular Endocrinology and Metabology, Federal University of Maranhão, São Luís, Brazil.
Sci Rep. 2025 Jul 1;15(1):21659. doi: 10.1038/s41598-025-05990-2.
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.
线粒体DNA是一种稳定的遗传标记，可用于研究母系血统。一些证据表明特定的线粒体DNA单倍群与某些疾病的出现之间存在潜在联系。然而，1型糖尿病（T1D）患者中这种相关性尚未得到研究。本研究旨在调查巴西混合人群中1型糖尿病（T1D）患者和对照者的线粒体DNA（mtDNA）血统。该研究纳入了144例T1D患者和283例对照者。mtDNA分析显示，两组中最常见的mtDNA类别是美洲原住民，其次是非洲人。此外，研究表明，T1D组中L3单倍群（非洲人）的频率高于对照组，尽管在进行多重比较校正后，这种差异无统计学意义。研究结果表明，美洲原住民和非洲人mtDNA的较高频率与马拉尼昂州人口形成的历史信息一致。这一发现表明，未来对mtDNA与T1D其他遗传标记之间相关性的研究可能会为巴西等混合人群中该疾病的病因和发病机制提供见解。
