ArticleBMC medical genomics2020
Mitochondrial GWAS and association of nuclear - mitochondrial epistasis with BMI in T1DM patients.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 32 citations in OpenAlex.
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations.Genes · 2025Article
- Conservation Mitonuclear Replacement: Facilitated mitochondrial adaptation for a changing world.Evolutionary applications · 2024Article
- Association Analysis Provides Insights into Plant Mitonuclear Interactions.Molecular biology and evolution · 2024Article
- Variants influencing age at diagnosis of HNF1A-MODY.Molecular medicine (Cambridge, Mass.) · 2022Article
- Article
- mtDNA haplogroup A enhances the effect of obesity on the risk of knee OA in a Mexican population.Scientific reports · 2022Article
- Examining the Association between Mitochondrial Genome Variation and Coronary Artery Disease.Genes · 2022Article
- Intergenomic and epistatic interactions control free radical mediated pancreatic β-cell damage.Frontiers in genetics · 2022Article
- The transcriptome-wide association search for genes and genetic variants which associate with BMI and gestational weight gain in women with type 1 diabetes.Molecular medicine (Cambridge, Mass.) · 2021Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundBMI is a strong indicator of complications from type I diabetes, especially under intensive treatment.
methodsWe have genotyped 435 type 1 diabetics using Illumina Infinium Omni Express Exome-8 v1.4 arrays and performed mitoGWAS on BMI. We identified additive interactions between mitochondrial and nuclear variants in genes associated with mitochondrial functioning MitoCarta2.0 and confirmed and refined the results on external cohorts: the Framingham Heart Study (FHS) and GTEx data. Linear mixed model analysis was performed using the GENESIS package in R/Bioconductor.
resultsWe find a borderline significant association between the mitochondrial variant rs28357980, localized to MT-ND2, and BMI (β = - 0.69, p = 0.056). This BMI association was confirmed on 1889 patients from FHS cohort (β = - 0.312, p = 0.047). Next, we searched for additive interactions between mitochondrial and nuclear variants. MT-ND2 variants interacted with variants in the genes SIRT3, ATP5B, CYCS, TFB2M and POLRMT. TFB2M is a mitochondrial transcription factor and together with TFAM creates a transcription promoter complex for the mitochondrial polymerase POLRMT. We have found an interaction between rs3021088 in MT-ND2 and rs6701836 in TFB2M leading to BMI decrease (inter_pval = 0.0241), while interaction of rs3021088 in MT-ND2 and rs41542013 in POLRMT led to BMI increase (inter_pval = 0.0004). The influence of these interactions on BMI was confirmed in external cohorts.
conclusionsHere, we have shown that variants in the mitochondrial genome as well as additive interactions between mitochondrial and nuclear SNPs influence BMI in T1DM and general cohorts.
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