Mitochondrial DNA Haplogroup Confers Genetic Susceptibility to Nasopharyngeal Carcinoma in Chaoshanese from Guangdong, China

Hu, Shengping; Du, Juping; Li, Derui; Yao, Yong‐Gang

doi:10.1371/journal.pone.0087795

Cited by 21 publications

(14 citation statements)

References 57 publications

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“…Haplogroups reflect specific ancestral populations and are the result of sequential accumulation of mitochondrial mutations through maternal lineages; hence, they present continent-specific distributions. The molecular mechanisms underlying the association between mtDNA haplogroups and cancer development remains unclear and controversial results between populations have been reported (65)(66)(67)(68)(69)(70)(71)(72)(73). However, specific mtDNA haplogroups have been associated with the risk of prostate cancer, BC, CC, nasopharyngeal cancer, gastric cancer, myelodysplastic syndromes (MS), acute lymphoblastic leukemia, etc.…”

Section: Mitochondria Variants and Cancermentioning

confidence: 99%

“…However, specific mtDNA haplogroups have been associated with the risk of prostate cancer, BC, CC, nasopharyngeal cancer, gastric cancer, myelodysplastic syndromes (MS), acute lymphoblastic leukemia, etc. (65)(66)(67)(68)(69)(70)(71)(72)74). For example, an over-representation of haplogroup I in Polish cancer patients has been reported (75), haplogroup U has been shown to be associated with an increased risk of developing renal and prostate cancers (65), and haplogroup JT has been shown to be associated with MS susceptibility in North American caucasion subjects (70).…”

Section: Mitochondria Variants and Cancermentioning

confidence: 99%

“…Additionally, haplogroups H, N and L have been shown to be associated with the risk of developing pancreatic cancer, whereas haplogroup K has been identified as protective for this type of cancer in participants from the San Francisco Bay Area in California (76). In China, haplogroups D4a and D5a have been found to be associated with an increased the risk of esophageal cancer, while the N and M haplogroups have been reported as biomarkers for the good and poor survival of patients with gastric cancer, respectively (67,69). Another study, including 1,503 autopsy cases from Japan (76), reported an association between the haplogroup M7b2, previously associated with leukemia (77) and an increased risk of developing hematologic cancers (76).…”

Section: Mitochondria Variants and Cancermentioning

confidence: 99%

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Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

et al. 2018

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High lactate production in cells during growth under oxygen-rich conditions (aerobic glycolysis) is a hallmark of tumor cells, indicating the role of mitochondrial function in tumorigenesis. In fact, enhanced mitochondrial biogenesis and impaired quality control are frequently observed in cancer cells. Mitochondrial DNA (mtDNA) encodes 13 subunits of oxidative phosphorylation (OXPHOS), is present in thousands of copies per cell, and has a very high mutation rate. Mutations in mtDNA and nuclear DNA (nDNA) genes encoding proteins that are important players in mitochondrial biogenesis and function are involved in oncogenic processes. A wide range of germline mtDNA polymorphisms, as well as tumor mtDNA somatic mutations have been identified in diverse cancer types. Approximately 72% of supposed tumor-specific somatic mtDNA mutations reported, have also been found as polymorphisms in the general population. The ATPase 6 and NADH dehydrogenase subunit genes of mtDNA are the most commonly mutated genes in breast cancer (BC). Furthermore, nuclear genes playing a role in mitochondrial biogenesis and function, such as peroxisome proliferators-activated receptor gamma coactivator-1 (PGC-1), fumarate hydratase (FH) and succinate dehydrogenase (SDH) are frequently mutated in cancer. In this review, we provide an overview of the mitochondrial germline variants and mutations in cancer, with particular focus on those found in BC.

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Section: Mitochondria Variants and Cancermentioning

confidence: 99%

Section: Mitochondria Variants and Cancermentioning

confidence: 99%

Section: Mitochondria Variants and Cancermentioning

confidence: 99%

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Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

et al. 2018

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“…The morbidity of NPC in Guangdong Province ranks the third in all malignant tumors and the first in head-neck tumors (Hu et al, 2014;Li et al, 2014), and with significant racial, regional and family aggregation phenomenon (Qu et al, 2015). Radiotherapy is the primary therapeutic method for locoregional advanced NPC (LANPC) because LANPC is sensitive to radiotherapy.…”

Section: Introductionmentioning

confidence: 99%

Analysis on Clinical Characteristics and Influencing Factors of Patients with Locoregionally Advanced Nasopharyngeal Carcinoma

Zheng

Xu²,

Qiu³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Background: To explore the independent prognostic factors for the recurrence/metastasis of patients with locoregionally advanced nasopharyngeal carcinoma (LANPC). Materials and Methods: A total of 604 patients initially diagnosed as LANPC by pathohistology in Fujian Provincial Cancer Hospital were selected to analyze the relationship between the clinical pathological patterns, therapeutic protocols and clinical stages with the recurrence/metastasis of LANPC. Results: The 1-, 3-and 5-year locoregionally recurrent rates of LANPC patients were 2.0%, 9.5% and 12.9% respectively, with average recurrent period being 78 months. Univariate analysis results indicated that clinical stages had certain influence on the recurrent period of LANPC patients. However, COX regression models showed that ages, genders and clinical stages were not the independent prognostic factors influencing the recurrence. The 1-, 3-and 5-year metastatic rates of LANPC patients were 6.6%, 17.5% and 18.8% respectively, with average metastatic period of 73 months. Univariate analysis results demonstrated that ages, N stages, clinical stages, locations of lymph node, retropharyngeal lymph node and extracapsular invasion of lymph node had certain influence on the metastatic period of LANPC patients. Additionally, further COX regression analysis results suggested that T stages, reduction protocols and extracapsular invasion of lymph node were the independent prognostic factors influencing the metastasis of patients with LANPC, in which T stages and extracapsular invasion of lymph node were the pestilent factors while reduction protocols the protective factor. Conclusions: Induction chemotherapy is beneficial to LANPC patients with initial treatment, and the metastatic rate decreases greatly after the application of reduction chemotherapy.

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“…To test whether there is a population stratification between the patients and control subjects, which may tone down the confidence level of the study, we performed a principal-component analysis (PCA) for patients and control subjects based on mtDNA haplogroup frequencies as previously described 23 . As shown in Figure 1, both patients and control subjects are close with each other, and were co-clustered with most of the northern Chinese population.…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA Haplogroup N9a Negatively Correlates with Incidence of Hepatocellular Carcinoma in Northern China

Hua

Zhao

et al. 2019

Molecular Therapy - Nucleic Acids

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Mitochondrial DNA (mtDNA) haplogroups are associated with various types of cancer; however, the molecular mechanisms by which mtDNA haplogroups affect primary hepatocellular carcinoma (HCC) are not known. In this study, we carried out a case-control study on 388 HCC patients and 511 geographically matched asymptomatic control subjects in northern China. We found that mtDNA haplogroup N9a and its diagnostic SNP, m.16257C > A, negatively correlated with the incidence of HCC in northern China (odds ratio [OR] 0.290, 95% confidence interval [CI] 0.123–0.685, p = 0.005), particularly in patients with infection of hepatitis B/C virus (HBV/HCV) (for haplogroup N9a: OR 0.213, 95% CI 0.077–0.590, p = 0.003; for m.16257C > A: OR 0.262, 95% CI 0.107–0.643, p = 0.003). However, mtDNA haplogroup N9a is not associated with clinical characteristics of HCC including serum alpha-fetoprotein (AFP) level and tumor size. In addition, cytoplasmic hybrid (cybrid) cells with N9a haplogroup (N9a10a and N9a1) had transcriptome profiles distinct from those with non-N9a (B5, D4, and D5) haplogroups. Gene set enrichment analysis (GSEA) showed that metabolic activity varied significantly between N9a and non-N9a haplogroups. Moreover, cells with haplogroup N9a negatively correlated with cell division and multiple liver cancer pathways compared with non-N9a cells. Although it is still unclear how N9a affects the aforementioned GSEA pathways, our data suggest that mtDNA haplogroup N9a is negatively correlated with the incidence and progression of HCC in northern China.

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Mitochondrial DNA Haplogroup Confers Genetic Susceptibility to Nasopharyngeal Carcinoma in Chaoshanese from Guangdong, China

Cited by 21 publications

References 57 publications

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

Analysis on Clinical Characteristics and Influencing Factors of Patients with Locoregionally Advanced Nasopharyngeal Carcinoma

Mitochondrial DNA Haplogroup N9a Negatively Correlates with Incidence of Hepatocellular Carcinoma in Northern China

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