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Cancer Med. 2018 Jun;7(6):2776-2782. doi: 10.1002/cam4.1452. Epub 2018 Apr 19.

Mitochondrial DNA copy number is associated with risk of head and neck squamous cell carcinoma in Chinese population.

Wang L1, Lv H1, Ji P1, Zhu X1, Yuan H2, Jin G1,3, Dai J1,3, Hu Z1,3, Su Y4, Ma H1,3.

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Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.
Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, 210029, China.
Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center of Cancer Medicine, Nanjing Medical University, Nanjing, 211166, China.
Oral and Maxillofacial Surgery, Faculty of Dentistry, The University of Hong Kong, Hong Kong.


Mitochondria show the special role in cellular bioenergy and many essential physiological activities. Previous researches have suggested that variations of mitochondrial DNA copy number contribute to development of different types of carcinomas. However, the relationship of mtDNA copy number in peripheral blood leukocytes (PBLs) with the risk of head and neck squamous cell carcinoma (HNSCC) is still inconclusive. We investigated the association of mtDNA with HNSCC risk through a case-control study including 570 HNSCC cases and 597 cancer-free controls. mtDNA copy number in PBLs was measured by real-time qPCR. Logistic regression was performed to estimate the association between the mtDNA copy number in PBLs and HNSCC risk. A U-shaped relation between the mtDNA copy number and HNSCC risk was found. Compared with those in the second quartile group, the adjusted odds ratios (ORs) and 95% confidence interval (CI) for those in the first and the forth quartile groups were 1.95 (1.37-2.76) and 2.16 (1.53-3.04), respectively. Using restricted cubic spline analysis, we confirmed such a significant U-shaped relation. Furthermore, the U-shaped association remained significant in different subgroups stratified by age, gender, tobacco smoking, and alcohol consumption. Both extremely low and high mtDNA copy numbers had significant associations with the increased HNSCC risk.


Association analysis; case-control study; head and neck; mitochondrial DNA copy number; squamous cell carcinoma

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