Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population

Shengting Li; Søren Besenbacher; Yingrui Li; Karsten Kristiansen; Niels Grarup; Anders Albrechtsen; Thomas Hempel Sparsø; Thorfinn Sand Korneliussen; Torben Hansen; Jun Wang; Rasmus Nielsen; Oluf Borbye Pedersen; Lars Bolund; Mikkel Heide Schierup

doi:10.1038/ejhg.2013.282

Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population

Shengting Li, Søren Besenbacher, Yingrui Li, Karsten Kristiansen, Niels Grarup, Anders Albrechtsen, Thomas Hempel Sparsø, Thorfinn Sand Korneliussen, Torben Hansen, Jun Wang, Rasmus Nielsen, Oluf Borbye Pedersen, Lars Bolund, Mikkel Heide Schierup

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Abstract

In this paper, we mine full mtDNA sequences from an exome capture data set of 2000 Danes, showing that it is possible to get high-quality full-genome sequences of the mitochondrion from this resource. The sample includes 1000 individuals with type 2 diabetes and 1000 controls. We characterise the variation found in the mtDNA sequence in Danes and relate the variation to diabetes risk as well as to several blood phenotypes of the controls but find no significant associations. We report 2025 polymorphisms, of which 393 have not been reported previously. These 393 mutations are both very rare and estimated to be caused by very recent mutations but individuals with type 2 diabetes do not possess more of these variants. Population genetics analysis using Bayesian skyline plot shows a recent history of rapid population growth in the Danish population in accordance with the fact that >40% of variable sites are observed as singletons.

Original language	English
Journal	European Journal of Human Genetics
Volume	22
Pages (from-to)	1040-1045
Number of pages	6
ISSN	1018-4813
DOIs	https://doi.org/10.1038/ejhg.2013.282
Publication status	Published - Aug 2014

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Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish populationFinal published version, 782 KB

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Li, S., Besenbacher, S., Li, Y., Kristiansen, K., Grarup, N., Albrechtsen, A., Sparsø, T. H., Korneliussen, T. S., Hansen, T., Wang, J., Nielsen, R., Pedersen, O. B., Bolund, L., & Schierup, M. H. (2014). Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population. European Journal of Human Genetics, 22, 1040-1045. https://doi.org/10.1038/ejhg.2013.282

Li, S, Besenbacher, S, Li, Y, Kristiansen, K , Grarup, N , Albrechtsen, A, Sparsø, TH, Korneliussen, TS , Hansen, T, Wang, J, Nielsen, R , Pedersen, OB, Bolund, L & Schierup, MH 2014, 'Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population', European Journal of Human Genetics, vol. 22, pp. 1040-1045. https://doi.org/10.1038/ejhg.2013.282

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title = "Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population",

abstract = "In this paper, we mine full mtDNA sequences from an exome capture data set of 2000 Danes, showing that it is possible to get high-quality full-genome sequences of the mitochondrion from this resource. The sample includes 1000 individuals with type 2 diabetes and 1000 controls. We characterise the variation found in the mtDNA sequence in Danes and relate the variation to diabetes risk as well as to several blood phenotypes of the controls but find no significant associations. We report 2025 polymorphisms, of which 393 have not been reported previously. These 393 mutations are both very rare and estimated to be caused by very recent mutations but individuals with type 2 diabetes do not possess more of these variants. Population genetics analysis using Bayesian skyline plot shows a recent history of rapid population growth in the Danish population in accordance with the fact that >40% of variable sites are observed as singletons.",

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doi = "10.1038/ejhg.2013.282",

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AU - Li, Shengting

AU - Besenbacher, Søren

AU - Li, Yingrui

AU - Kristiansen, Karsten

AU - Grarup, Niels

AU - Albrechtsen, Anders

AU - Sparsø, Thomas Hempel

AU - Korneliussen, Thorfinn Sand

AU - Hansen, Torben

AU - Wang, Jun

AU - Nielsen, Rasmus

AU - Pedersen, Oluf Borbye

AU - Bolund, Lars

AU - Schierup, Mikkel Heide

PY - 2014/8

Y1 - 2014/8

N2 - In this paper, we mine full mtDNA sequences from an exome capture data set of 2000 Danes, showing that it is possible to get high-quality full-genome sequences of the mitochondrion from this resource. The sample includes 1000 individuals with type 2 diabetes and 1000 controls. We characterise the variation found in the mtDNA sequence in Danes and relate the variation to diabetes risk as well as to several blood phenotypes of the controls but find no significant associations. We report 2025 polymorphisms, of which 393 have not been reported previously. These 393 mutations are both very rare and estimated to be caused by very recent mutations but individuals with type 2 diabetes do not possess more of these variants. Population genetics analysis using Bayesian skyline plot shows a recent history of rapid population growth in the Danish population in accordance with the fact that >40% of variable sites are observed as singletons.

AB - In this paper, we mine full mtDNA sequences from an exome capture data set of 2000 Danes, showing that it is possible to get high-quality full-genome sequences of the mitochondrion from this resource. The sample includes 1000 individuals with type 2 diabetes and 1000 controls. We characterise the variation found in the mtDNA sequence in Danes and relate the variation to diabetes risk as well as to several blood phenotypes of the controls but find no significant associations. We report 2025 polymorphisms, of which 393 have not been reported previously. These 393 mutations are both very rare and estimated to be caused by very recent mutations but individuals with type 2 diabetes do not possess more of these variants. Population genetics analysis using Bayesian skyline plot shows a recent history of rapid population growth in the Danish population in accordance with the fact that >40% of variable sites are observed as singletons.

U2 - 10.1038/ejhg.2013.282

DO - 10.1038/ejhg.2013.282

M3 - Journal article

C2 - 24448545

SN - 1018-4813

VL - 22

SP - 1040

EP - 1045

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population

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