Article open access publication

Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes

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

Volume 13, 12, 2018

DOI:10.1371/journal.pone.0208829, Dimensions: pub.1110593615, PMC: PMC6292624, PMID: 30543675,

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

Mitochondrial DNA (mtDNA) haplogroups (hgs) are evolutionarily conserved sets of mtDNA SNP-haplotypes with characteristic geographical distribution. Associations of hgs with disease and physiological characteristics have been reported, but have frequently not been reproducible. Using 418 mtDNA SNPs on the PsychChip (Illumina), we assessed the spatio-temporal distribution of mtDNA hgs in Denmark from DNA isolated from 24,642 geographically un-biased dried blood spots (DBS), collected from 1981 to 2005 through the Danish National Neonatal Screening program. ADMIXTURE was used to establish the genomic ancestry of all samples using a reference of 100K+ autosomal SNPs in 2,248 individuals from nine populations. Median-joining analysis determined that the hgs were highly variable, despite being typically Northern European in origin, suggesting multiple founder events. Furthermore, considerable heterogeneity and variation in nuclear genomic ancestry was observed. Thus, individuals with hg H exhibited 95%, and U hgs 38.2% - 92.5%, Danish ancestry. Significant clines between geographical regions and rural and metropolitan populations were found. Over 25 years, macro-hg L increased from 0.2% to 1.2% (p = 1.1*E-10), and M from 1% to 2.4% (p = 3.7*E-8). Hg U increased among the R macro-hg from 14.1% to 16.5% (p = 1.9*E-3). Genomic ancestry, geographical skewedness, and sub-hg distribution suggested that the L, M and U increases are due to immigration. The complex spatio-temporal dynamics and genomic ancestry of mtDNA in the Danish population reflect repeated migratory events and, in later years, net immigration. Such complexity may explain the often contradictory and population-specific reports of mito-genomic association with disease.

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NORA University Profiles

University of Copenhagen

Aarhus University

Aalborg University

Dimensions Citation Indicators

Times Cited: 3

Field Citation Ratio (FCR): 0.97

Relative Citation ratio (RCR): 0

Open Access Info

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