Li Shengting, Besenbacher Soren, Li Yingrui, Kristiansen Karsten, Grarup Niels, Albrechtsen Anders, Sparsø Thomas, Korneliussen Thorfinn, Hansen Torben, Wang Jun, Nielsen Rasmus, Pedersen Oluf, Bolund Lars, Schierup Mikkel H
1] Bioinformatics Research Centre, Aarhus University, C.F. Mollers Alle, 8000 Aarhus C, Denmark [2] BGI-Shenzhen, Shenzhen, China.
Bioinformatics Research Centre, Aarhus University, C.F. Mollers Alle, 8000 Aarhus C, Denmark.
Eur J Hum Genet. 2014 Aug;22(8):1040-5. doi: 10.1038/ejhg.2013.282. Epub 2014 Jan 22.
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.
在本文中，我们从2000名丹麦人的外显子捕获数据集中挖掘完整的线粒体DNA（mtDNA）序列，结果表明从该资源中获取高质量的线粒体全基因组序列是可行的。该样本包括1000名2型糖尿病患者和1000名对照。我们对丹麦人mtDNA序列中的变异进行了表征，并将这些变异与糖尿病风险以及对照的几种血液表型相关联，但未发现显著关联。我们报告了2025个多态性位点，其中393个此前未被报道。这393个突变既非常罕见，据估计是由近期突变引起的，但2型糖尿病患者并不拥有更多此类变异。使用贝叶斯天际线图进行的群体遗传学分析显示，丹麦人群近期经历了快速的群体增长，这与超过40%的可变位点为单例这一事实相符。
