TY - JOUR
T1 - mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes
AU - Garcia-Gaona, Enrique
AU - García-Gregorio, Alhelí
AU - García-Jiménez, Camila
AU - López-Olaiz, Mildred Alejandra
AU - Mendoza-Ramírez, Paola
AU - Fernandez-Guzman, Daniel
AU - Pillado-Sánchez, Rolando Alberto
AU - Soto-Pacheco, Axel David
AU - Yareni-Zuñiga, Laura
AU - Sánchez-Parada, María Guadalupe
AU - González-Santiago, Ana Elizabeth
AU - Román-Pintos, Luis Miguel
AU - Castañeda-Arellano, Rolando
AU - Hernández-Ortega, Luis Daniel
AU - Mercado-Sesma, Arieh Roldán
AU - Orozco-Luna, Felipe de Jesús
AU - Villa-Angulo, Carlos
AU - Villa-Angulo, Rafael
AU - Baptista-Rosas, Raúl C.
N1 - Publisher Copyright:
© 2023 by the authors.
PY - 2023/11
Y1 - 2023/11
N2 - 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.
AB - 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.
KW - mitogenome
KW - mtDNA
KW - polymorphism
KW - type 2 diabetes
KW - variant
UR - http://www.scopus.com/inward/record.url?scp=85178304665&partnerID=8YFLogxK
U2 - 10.3390/cimb45110548
DO - 10.3390/cimb45110548
M3 - Artículo
AN - SCOPUS:85178304665
SN - 1467-3037
VL - 45
SP - 8716
EP - 8732
JO - Current Issues in Molecular Biology
JF - Current Issues in Molecular Biology
IS - 11
ER -
