Article open access publication

Schizophrenia-associated mt-DNA SNPs exhibit highly variable haplogroup affiliation and nuclear ancestry: Bi-genomic dependence raises major concerns for link to disease

PLoS ONE, Public Library of Science (PLoS), ISSN 1932-6203

Volume 13, 12, 2018

DOI:10.1371/journal.pone.0208828, Dimensions: pub.1110519469, PMC: PMC6287820, PMID: 30532134,

Affiliations

Organisations

  1. (1) State Serum Institute, grid.6203.7
  2. (2) University of Toronto, grid.17063.33
  3. (3) University of Copenhagen, grid.5254.6, KU
  4. (4) Aalborg Hospital, grid.27530.33, North Denmark Region
  5. (5) Aarhus University, grid.7048.b, AU
  6. (6) Capital Region of Denmark, grid.425848.7

Countries

Denmark

Canada

Continents

Europe

North America

Description

Mitochondria play a significant role in human diseases. However, disease associations with mitochondrial DNA (mtDNA) SNPs have proven difficult to replicate. An analysis of eight schizophrenia-associated mtDNA SNPs, in 23,743 Danes without a psychiatric diagnosis and 2,538 schizophrenia patients, revealed marked inter-allelic differences in mitochondrial haplogroup affiliation and nuclear ancestry. This bi-genomic dependence could entail population stratification. Only two mitochondrial SNPs, m.15043A and m.15218G, were significantly associated with schizophrenia. However, these associations disappeared when corrected for haplogroup affiliation and nuclear ancestry. The extensive bi-genomic dependence documented here is a major concern when interpreting historic, as well as designing future, mtDNA association studies.

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NORA University Profiles

University of Copenhagen

Aarhus University

Aalborg University

Dimensions Citation Indicators

Times Cited: 4

Field Citation Ratio (FCR): 1.31

Relative Citation ratio (RCR): 0.47

Open Access Info

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