Genes & Genomics

, Volume 37, Issue 11, pp 939–944 | Cite as

The prevalence of an interrupted poly-C tract variant harboring mitochondrial DNA haplogroup B and its association with reduced susceptibility to type 2 diabetes in Korea

  • Ki Cheol Kim
  • Seul Gi Lee
  • Ji Ae Kim
  • Eun Ji Choi
  • Wook KimEmail author
Research Article


Recent reports suggest that the mitochondrial DNA (mtDNA) poly-C tract (16184–16193 polycytosine tract) variant and its relevant haplogroup lineages could be associated with type 2 diabetes mellitus (T2DM); however, subsequent surveys of this relationship have yielded conflicting results, some finding significant associations and others reporting no significant effect. Therefore, to assess the possible contribution of mtDNA haplogroup-specific variants to the occurrence of T2DM, we performed a population-based study on Korean diabetes cases and controls. The distribution of 16184–16193 poly-C tract variants and their relevant haplogroup B lineage were typed in the Korean population using APLP/PCR–RFLP/sequencing on a total of 497 T2DM cases and 500 corresponding controls. While the haplogroup B distribution of the T2DM cases did not differ significantly from the controls, the frequency of an interrupted poly-C tract with T16189C variation harboring mtDNA haplogroup B was significantly higher in controls compared to the T2DM patients (OR 0.106, 95 % CI 0.002–0.785, p = 0.012). Thus, our data imply that the specific mtDNA haplogroup B lineage retaining the interrupted poly-C tract is significantly associated with reduced susceptibility to T2DM in the Korean population, although functional studies with larger sample size from diverse regions of different ethnic populations are necessary to further substantiate these findings.


Mitochondrial DNA Haplogroup B Poly-C tract T16189C variant Type 2 diabetes Koreans 



The biospecimens for this study were provided by National Biobank of Korea (KOBB-2012-1046). They also thank S.S. Hong for technical assistance during the course of this work. Comments and discussion on this manuscript by Chris Tyler-Smith (The Wellcome Trust) were also greatly appreciated. This work was supported by grants from National Research Foundation of Korea (NRF-2012R1A1A2041245) with additional support from National Forensic Service of Korea (2014). This work was also supported in part by DANKOOK ChemBio Specialization for Creative Korea-II (2014).

Compliance with ethical standards

Bioethical statements

The study was approved by the Ethics Committee and Institutional Review Board of Dankook University, Korea.

Conflict of interest

The authors declare no conflict of interest.


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Copyright information

© The Genetics Society of Korea and Springer-Science and Media 2015

Authors and Affiliations

  • Ki Cheol Kim
    • 1
  • Seul Gi Lee
    • 1
  • Ji Ae Kim
    • 1
  • Eun Ji Choi
    • 1
  • Wook Kim
    • 1
    Email author
  1. 1.Department of Biological SciencesDankook UniversityCheonanRepublic of Korea

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