mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes

Autor: Enrique Garcia-Gaona, Alhelí García-Gregorio, Camila García-Jiménez, Mildred Alejandra López-Olaiz, Paola Mendoza-Ramírez, Daniel Fernandez-Guzman, Rolando Alberto Pillado-Sánchez, Axel David Soto-Pacheco, Laura Yareni-Zuñiga, María Guadalupe Sánchez-Parada, Ana Elizabeth González-Santiago, Luis Miguel Román-Pintos, Rolando Castañeda-Arellano, Luis Daniel Hernández-Ortega, Arieh Roldán Mercado-Sesma, Felipe de Jesús Orozco-Luna, Carlos Villa-Angulo, Rafael Villa-Angulo, Raúl C. Baptista-Rosas
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Current Issues in Molecular Biology, Vol 45, Iss 11, Pp 8716-8732 (2023)
Druh dokumentu: article
ISSN: 1467-3045
1467-3037
DOI: 10.3390/cimb45110548
Popis: Type 2 diabetes (T2D) is a chronic systemic disease with a complex etiology, characterized by insulin resistance and mitochondrial dysfunction in various cell tissues. To explore this relationship, we conducted a secondary analysis of complete mtDNA sequences from 1261 T2D patients and 1105 control individuals. Our findings revealed significant associations between certain single-nucleotide polymorphisms (SNPs) and T2D. Notably, the variants m.1438A>G (rs2001030) (controls: 32 [27.6%], T2D: 84 [72.4%]; OR: 2.46; 95%CI: 1.64–3.78; p < 0.001), m.14766C>T (rs193302980) (controls: 498 [36.9%], T2D: 853 [63.1%]; OR: 2.57, 95%CI: 2.18–3.04, p < 0.001), and m.16519T>C (rs3937033) (controls: 363 [43.4%], T2D: 474 [56.6%]; OR: 1.24, 95%CI: 1.05–1.47, p = 0.012) were significantly associated with the likelihood of developing diabetes. The variant m.16189T>C (rs28693675), which has been previously documented in several studies across diverse populations, showed no association with T2D in our analysis (controls: 148 [13.39] T2D: 171 [13.56%]; OR: 1.03; 95%CI: 0.815–1.31; p = 0.83). These results provide evidence suggesting a link between specific mtDNA polymorphisms and T2D, possibly related to association rules, topological patterns, and three-dimensional conformations associated with regions where changes occur, rather than specific point mutations in the sequence.
Databáze: Directory of Open Access Journals
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