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Mitochondrial DNA haplogroup M7 confers a reduced risk of colorectal cancer in a Han population from northern China |
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| Authors: | Qing Yuan Liping Su Tian Wang Yang Liu Zhenxing Lu Kaixiang Zhou Shanshan Guo Xiwen Gu Jinliang Xing Xu Guo |
| Affiliation: | 1. Institute of Medical Research, Northwestern Polytechnical University, Xi’an, China Contribution: Software (lead), Visualization (lead), Writing - original draft (lead);2. State Key Laboratory of Cancer Biology and Department of Physiology and Pathophysiology, Fourth Military Medical University, Xi’an, China Contribution: Writing - original draft (equal);3. Laboratory Department, Shaanxi Provincial People's Hospital, Xi’an, China Contribution: Writing - original draft (supporting);4. State Key Laboratory of Cancer Biology and Department of Physiology and Pathophysiology, Fourth Military Medical University, Xi’an, China Contribution: Project administration (equal);5. Institute of Medical Research, Northwestern Polytechnical University, Xi’an, China Contribution: Formal analysis (equal);6. State Key Laboratory of Cancer Biology and Department of Physiology and Pathophysiology, Fourth Military Medical University, Xi’an, China Contribution: Formal analysis (equal);7. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi'an Jiaotong University, Xi'an, China Contribution: Writing - review & editing (supporting);8. State Key Laboratory of Cancer Biology and Department of Physiology and Pathophysiology, Fourth Military Medical University, Xi’an, China |
| Abstract: | Mitochondria are central eukaryotic organelles in cellular metabolism and ATP production. Mitochondrial DNA (mtDNA) alterations have been implicated in the development of colorectal cancer (CRC). However, there are few reports on the association between mtDNA haplogroups or single nucleotide polymorphisms (SNPs) and the risk of CRC. The mtDNA of 286 Northern Han Chinese CRC patients were sequenced by next-generation sequencing technology. MtDNA data from 811 Han Chinese population controls were collected from two public data sets. Then, logistic regression analysis was used to determine the effect of mtDNA haplogroup or SNP on the risk of CRC. We found that patients with haplogroup M7 exhibited a reduced risk of CRC when compared to patients with other haplogroups (odds ratio [OR] = 0.532, 95% confidence interval [CI] = 0.285–0.937, p = 0.036) or haplogroup B (OR = 0.477, 95% CI = 0.238–0.916, p = 0.030). Furthermore, haplogroup M7 was still associated with the risk of CRC when the validation and combined control cohort were used. In addition, several haplogroup M7 specific SNPs, including 199T>C, 4071C>T and 6455C>T, were significantly associated with the risk of CRC. Our results indicate the risk potential of mtDNA haplogroup M7 and SNPs in CRC in Northern China. |
| Keywords: | colorectal cancer risk haplogroup mitochondria single nucleotide polymorphisms |