biostudies-literaturePickett SJWellcome Trust Centre for Mitochondrial ResearchWellcome Trust85-88https://www.ebi.ac.uk/biostudies/studies/S-EPMC7617118biostudies-literatureUnknown63Interactions between the products of the nuclear and mitochondrial genomes are critical for the function of most eukaryotic cells. Recently the introduction of mitochondrial replacement therapy has raised the question of incompatibilities between mitochondrial and nuclear variants, and their potential influence on the genetic makeup of human populations. Such interactions could also contribute to the variability of the penetrance of pathogenic DNA variants. This led us to investigate the frequencies of combinations of nuclear and mitochondrial SNP alleles (mitonuclear combinations) in healthy individuals (n = 5375) and in a cohort of patients with Parkinson's disease (PD, n = 2210). In the unaffected population, we were not able to find associations between nuclear and mitochondrial varianMitochondrionInteractions between nuclear and mitochondrial SNPs and Parkinson's disease risk.PMC7617118203105/Z/16/Z203105Pickett SJDeen DSantibanez-Koref MHudson GPyle AfalseInteractions between nuclear and mitochondrial SNPs and Parkinson's disease risk.Interactions between the products of the nuclear and mitochondrial genomes are critical for the function of most eukaryotic cells. Recently the introduction of mitochondrial replacement therapy has raised the question of incompatibilities between mitochondrial and nuclear variants, and their potential influence on the genetic makeup of human populations. Such interactions could also contribute to the variability of the penetrance of pathogenic DNA variants. This led us to investigate the frequencies of combinations of nuclear and mitochondrial SNP alleles (mitonuclear combinations) in healthy individuals (n = 5375) and in a cohort of patients with Parkinson's disease (PD, n = 2210). In the unaffected population, we were not able to find associations between nuclear and mitochondrial varian2022-01-01T00:00:00Z2022 Mar2026-06-03T05:33:23.36Z2025-04-03T23:55:43.851ZS-EPMC76171183516798310.1016/j.mito.2022.02.002