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Lookup NU author(s): Professor Gavin Hudson, Dr Aurora Gomez Duran, Dr Ian Wilson, Professor Patrick Chinnery
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Mitochondrial DNA (mtDNA) is highly polymorphic at the population level, and specific mtDNA variants affect mitochondrial function. With emerging evidence that mitochondrial mechanisms are central to common human diseases, it is plausible that mtDNA variants contribute to the "missing heritability" of several complex traits. Given the central role of mtDNA genes in oxidative phosphorylation, the same genetic variants would be expected to alter the risk of developing several different disorders, but this has not been shown to date. Here we studied 38,638 individuals with 11 major diseases, and 17,483 healthy controls. Imputing missing variants from 7,729 complete mitochondrial genomes, we captured 40.41% of European mtDNA variation. We show that mtDNA variants modifying the risk of developing one disease also modify the risk of developing other diseases, thus providing independent replication of a disease association in different case and control cohorts. High-risk alleles were more common than protective alleles, indicating that mtDNA is not at equilibrium in the human population, and that recent mutations interact with nuclear loci to modify the risk of developing multiple common diseases.
Author(s): Hudson G, Gomez-Duran A, Wilson IJ, Chinnery PF
Publication type: Article
Publication status: Published
Journal: PLoS Genetics
Year: 2014
Volume: 10
Issue: 5
Print publication date: 22/05/2014
Online publication date: 22/05/2014
Acceptance date: 24/03/2014
Date deposited: 27/08/2014
ISSN (print): 1553-7390
ISSN (electronic): 1553-7404
Publisher: Public Library of Science
URL: http://dx.doi.org/10.1371/journal.pgen.1004369
DOI: 10.1371/journal.pgen.1004369
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