Preprint open access publication

Mitochondrial DNA SNPs associated with Schizophrenia exhibit Highly Variable Inter-allelic Haplogroup Affiliation and Nuclear Genogeographic Affinity: Bi-Genomic Linkage Disequilibrium raises Major Concerns for Link to Disease

bioRxiv, Cold Spring Harbor Laboratory,


DOI:10.1101/149070, Dimensions: pub.1091914560,



  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





North America



Abstract Mitochondria play a significant role in human diseases. However, disease associations with mitochondrial DNA (mtDNA) SNPs have proven difficult to replicate. A reanalysis of eight schizophrenia-associated mtDNA SNPs, in 23,743 normal Danes and 2,538 schizophrenia patients, revealed marked inter-allelic differences in haplogroup affiliation and nuclear ancestry, genogeophraphic affinity (GGA). This bi-genomic linkage disequilibrium (2GLD) 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. The extensive 2GLD documented is a major concern when interpreting historic as well as designing future mtDNA association studies.


Research Categories

Main Subject Area

Fields of Research

Links & Metrics

NORA University Profiles

University of Copenhagen

Aarhus University

Dimensions Citation Indicators

Times Cited: 2

Field Citation Ratio (FCR): 0.42

Open Access Info

Green, Published