Department of Economics and Business Economics

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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Standard

Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes. / Bybjerg-Grauholm, Jonas; Hagen, Christian M; Gonçalves, Vanessa F; Bækvad-Hansen, Marie; Hansen, Christine S; Hedley, Paula L; Kanters, Jørgen K; Nielsen, Jimmi; Theisen, Michael; Mors, Ole; Kennedy, James; Als, Thomas D; Demur, Alfonso B; Nordentoft, Merete; Børglum, Anders; Mortensen, Preben B; Werge, Thomas M; Hougaard, David M; Christiansen, Michael.

In: PLOS ONE, Vol. 13, No. 12, e0208829, 2018.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Bybjerg-Grauholm, J, Hagen, CM, Gonçalves, VF, Bækvad-Hansen, M, Hansen, CS, Hedley, PL, Kanters, JK, Nielsen, J, Theisen, M, Mors, O, Kennedy, J, Als, TD, Demur, AB, Nordentoft, M, Børglum, A, Mortensen, PB, Werge, TM, Hougaard, DM & Christiansen, M 2018, 'Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes', PLOS ONE, vol. 13, no. 12, e0208829. https://doi.org/10.1371/journal.pone.0208829

APA

Bybjerg-Grauholm, J., Hagen, C. M., Gonçalves, V. F., Bækvad-Hansen, M., Hansen, C. S., Hedley, P. L., ... Christiansen, M. (2018). Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes. PLOS ONE, 13(12), [e0208829]. https://doi.org/10.1371/journal.pone.0208829

CBE

Bybjerg-Grauholm J, Hagen CM, Gonçalves VF, Bækvad-Hansen M, Hansen CS, Hedley PL, Kanters JK, Nielsen J, Theisen M, Mors O, Kennedy J, Als TD, Demur AB, Nordentoft M, Børglum A, Mortensen PB, Werge TM, Hougaard DM, Christiansen M. 2018. Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes. PLOS ONE. 13(12). https://doi.org/10.1371/journal.pone.0208829

MLA

Vancouver

Bybjerg-Grauholm J, Hagen CM, Gonçalves VF, Bækvad-Hansen M, Hansen CS, Hedley PL et al. Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes. PLOS ONE. 2018;13(12). e0208829. https://doi.org/10.1371/journal.pone.0208829

Author

Bybjerg-Grauholm, Jonas ; Hagen, Christian M ; Gonçalves, Vanessa F ; Bækvad-Hansen, Marie ; Hansen, Christine S ; Hedley, Paula L ; Kanters, Jørgen K ; Nielsen, Jimmi ; Theisen, Michael ; Mors, Ole ; Kennedy, James ; Als, Thomas D ; Demur, Alfonso B ; Nordentoft, Merete ; Børglum, Anders ; Mortensen, Preben B ; Werge, Thomas M ; Hougaard, David M ; Christiansen, Michael. / Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes. In: PLOS ONE. 2018 ; Vol. 13, No. 12.

Bibtex

@article{a737e33e66da4416b751b7810a91ef89,
title = "Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes",
abstract = "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.",
author = "Jonas Bybjerg-Grauholm and Hagen, {Christian M} and Gon{\cc}alves, {Vanessa F} and Marie B{\ae}kvad-Hansen and Hansen, {Christine S} and Hedley, {Paula L} and Kanters, {J{\o}rgen K} and Jimmi Nielsen and Michael Theisen and Ole Mors and James Kennedy and Als, {Thomas D} and Demur, {Alfonso B} and Merete Nordentoft and Anders B{\o}rglum and Mortensen, {Preben B} and Werge, {Thomas M} and Hougaard, {David M} and Michael Christiansen",
year = "2018",
doi = "10.1371/journal.pone.0208829",
language = "English",
volume = "13",
journal = "P L o S One",
issn = "1932-6203",
publisher = "public library of science",
number = "12",

}

RIS

TY - JOUR

T1 - Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes

AU - Bybjerg-Grauholm, Jonas

AU - Hagen, Christian M

AU - Gonçalves, Vanessa F

AU - Bækvad-Hansen, Marie

AU - Hansen, Christine S

AU - Hedley, Paula L

AU - Kanters, Jørgen K

AU - Nielsen, Jimmi

AU - Theisen, Michael

AU - Mors, Ole

AU - Kennedy, James

AU - Als, Thomas D

AU - Demur, Alfonso B

AU - Nordentoft, Merete

AU - Børglum, Anders

AU - Mortensen, Preben B

AU - Werge, Thomas M

AU - Hougaard, David M

AU - Christiansen, Michael

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

U2 - 10.1371/journal.pone.0208829

DO - 10.1371/journal.pone.0208829

M3 - Journal article

C2 - 30543675

VL - 13

JO - P L o S One

JF - P L o S One

SN - 1932-6203

IS - 12

M1 - e0208829

ER -