Mitochondrial DNA haplogroup M7 confers a reduced risk of colorectal cancer in a Han population from northern China.

Mitochondrial DNA haplogroup M7 confers a reduced risk of colorectal cancer in a Han population from northern China.
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DOI:
10.1111/jcmm.16789
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发表时间:
2021-08
影响因子:
5.3
通讯作者:
Guo X
Guo X
中科院分区:
医学2区
文献类型:
--
作者:
Yuan Q;Su L;Wang T;Liu Y;Lu Z;Zhou K;Guo S;Gu X;Xing J;Guo X

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线粒体是真核生物细胞代谢和三磷酸腺苷产生的中心细胞器。线粒体DNA(MtDNA)改变与结直肠癌(CRC)的发生有关。然而,关于线粒体DNA单倍群或单核苷酸多态(SNPs)与结直肠癌风险之间的关系的报道很少。采用新一代测序技术对286例北方汉族结直肠癌患者的mtDNA进行了测序。811例汉族人对照的线粒体DNA数据来自两个公开的数据集。然后用Logistic回归分析确定mtDNA单倍群或SNP对结直肠癌发病风险的影响。我们发现,与其他单倍组患者(优势比[OR]=0.532,95%可信区间[CI]=0.285-0.937,P=0.036)或单倍组B(优势比=0.477,95%CI=0.238-0.916,P=0.030)相比,单倍组M7患者患结直肠癌的风险较低。此外,当使用验证和联合对照队列时,单倍组M7仍然与结直肠癌的风险相关。此外,199T>C、4071C>T和6455C>T等几个单基因M7特异性SNPs与结直肠癌的风险显著相关。我们的结果提示线粒体DNA单倍组M7和SNPs在中国北部地区结直肠癌中具有潜在的风险。
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.
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