Variants in the Control Region of Mitochondrial Genome Associated with type 2 Diabetes in a Cohort of Mexican Mestizos

Santander-Lucio, Heriberto; Totomoch-Serra, Armando; Muñoz, Marı́a de Lourdes; García-Hernández, Normand; Pérez-Ramírez, Gerardo; Valladares‐Salgado, Adán; Pérez-Muñoz, Ashael Alfredo

doi:10.1016/j.arcmed.2022.12.014

Cited by 2 publications

(2 citation statements)

References 77 publications

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“…These changes were found in different mitochondrial regions (Table 2), the m.1438A>G polymorphism (rs2001030), the most frequent change found in our analysis, are in MT-RNR1 gene coding for the 12S ribosomal RNA. ; m.14676C>T polymorphism, also known as rs193302980, are placed in the MT-TE gene coding for position 71 in the acceptor stem of tRNA-Glu; m.16519T>C (rs3937033) is a variant in mitochondrial DNA in the noncoding position in a previous comprehensive study, it was found that there is a statistically significant association between the m.16519T>C variant and the prevalence of type 2 diabetes, it was observed that individuals possessing the m.16519T>C variant demonstrated a 69% increase in the odds of developing T2D (OR = 1.69, CI = 1.23-2.33, p = 0.006) (Santander-Lucio et al, 2023); m.10398A>G also known as rs2853826 in the MT-ND3 gene coding for subunit ND3 of complex I (NADH dehydrogenase) at first nucleotide of codon 114 (ACC) for threonine; and finally, m.16189T>C polymorphism (rs28693675) in the hypervariable segment 1 (locus MT-HV1, 16024 -16383) at mitochondrial DNA replication control region. These variants have been previously investigated in relation to different diseases and conditions, including T2D.…”

Section: Discussionmentioning

confidence: 95%

mtDNA Single Nucleotide Variants Associated with Type 2 Diabetes

García Gaona,

García Gregorio,

García Jimenez

et al. 2023

Preprint

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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 1,261 T2D patients and 1,105 control individuals. Our findings revealed significant associations between certain single nucleotide polymorphisms (SNPs) and T2D. Notably, the variants m.1438A>G (controls: 32 [27.6%], T2D: 84 [72.4%]; OR: 2.46; 95%CI: 1.64-3.78; p<0.001), m.14766C>T (controls: 498 [36.9%], T2D: 853 [63.1%]; OR: 2.57, 95%CI: 2.18-3.04, p<0.001), and m.16519T>C (controls: 363 [43.4%], T2D: 474 [56.6%]; OR: 1.24, 95%CI: 1.05-1.47, p=0.012) were significantly associated with diabetes probability. The variant m.16189T>C Previously reported in multiple studies in different populations, it was not found to be associated 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 some mtDNA polymorphisms and T2D, probably related to association rules and topological patterns and three-dimensional confirmation associated to regions where the changes are, rather than to point mutations in the sequence.

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Section: Discussionmentioning

confidence: 95%

mtDNA Single Nucleotide Variants Associated with Type 2 Diabetes

García Gaona,

García Gregorio,

García Jimenez

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…In a previous comprehensive study, it was found that there was a statistically significant association between the m.16519T>C (rs3937033) variant and the prevalence of type 2 diabetes. It was observed that individuals possessing the m.16519T>C (rs3937033) variant demonstrated a 69% increase in the odds of developing T2D (OR = 1.69, CI = 1.23-2.33, p = 0.006) [78]. Moreover, m.10398A>G, also known as rs2853826, is found in the MT-ND3 gene coding for subunit ND3 of complex I (NADH dehydrogenase) at the first nucleotide of codon 114 (ACC) for threonine; finally, the m.16189T>C polymorphism (rs28693675) occurs in the hypervariable segment 1 (locus MT-HV1, 16024-16383) at the mitochondrial DNA replication control region.…”

Section: Discussionmentioning

confidence: 99%

mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes

Garcia-Gaona,

García-Gregorio,

García-Jiménez

et al. 2023

CIMB

View full text Add to dashboard Cite

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.

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Variants in the Control Region of Mitochondrial Genome Associated with type 2 Diabetes in a Cohort of Mexican Mestizos

Cited by 2 publications

References 77 publications

mtDNA Single Nucleotide Variants Associated with Type 2 Diabetes

mtDNA Single Nucleotide Variants Associated with Type 2 Diabetes

mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes

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