Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population
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Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population. / Li, Shengting; Besenbacher, Søren; Li, Yingrui; Kristiansen, Karsten; Grarup, Niels; Albrechtsen, Anders; Sparsø, Thomas Hempel; Korneliussen, Thorfinn Sand; Hansen, Torben; Wang, Jun; Nielsen, Rasmus; Pedersen, Oluf Borbye; Bolund, Lars; Schierup, Mikkel Heide.
In: European Journal of Human Genetics, Vol. 22, 2014, p. 1040-1045.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population
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
Y1 - 2014
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.European Journal of Human Genetics advance online publication, 22 January 2014; doi:10.1038/ejhg.2013.282.
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.European Journal of Human Genetics advance online publication, 22 January 2014; doi:10.1038/ejhg.2013.282.
U2 - 10.1038/ejhg.2013.282
DO - 10.1038/ejhg.2013.282
M3 - Journal article
C2 - 24448545
VL - 22
SP - 1040
EP - 1045
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
ER -
ID: 101926525