ArticlePloS one2011
Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 50 citations in OpenAlex.
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome.Frontiers in endocrinology · 2023Article
- Roles of mitochondrial genetics in cancer metastasis.Trends in cancer · 2022Review
- Identification of Somatic Mitochondrial DNA Mutations, Heteroplasmy, and Increased Levels of Catenanes in Tumor Specimens Obtained from Three Endometrial Cancer Patients.Life (Basel, Switzerland) · 2022Article
- Examining the Association between Mitochondrial Genome Variation and Coronary Artery Disease.Genes · 2022Article
- Contribution of mitochondrial gene variants in diabetes and diabetic kidney disease.Frontiers in endocrinology · 2022Article
- Engineering Genetic Systems for Treating Mitochondrial Diseases.Pharmaceutics · 2021Review
- Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.Genes · 2021Article
- The Role of Mitochondria in Carcinogenesis.International journal of molecular sciences · 2021Review
- Mitochondria in skin health, aging, and disease.Cell death & disease · 2020Review
- Analysis of Mitochondrial DNA Polymorphisms in the Human Cell Lines HepaRG and SJCRH30.International journal of molecular sciences · 2019Article
- mRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders.Stem cells and development · 2019Article
- Mitochondrial DNA variations in tongue squamous cell carcinoma.Biomedical reports · 2019Article
- Roles of the mitochondrial genetics in cancer metastasis: not to be ignored any longer.Cancer metastasis reviews · 2018Review
- Associations of mitochondrial polymorphisms with sporadic colorectal adenoma.Molecular carcinogenesis · 2018Article
- Mitochondrial DNA copy number variation, leukocyte telomere length, and breast cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) study.Breast cancer research : BCR · 2018Article
- Health and genetic ancestry testing: time to bridge the gap.BMC medical genomics · 2017Article
- Metabolic changes associated with tumor metastasis, part 2: Mitochondria, lipid and amino acid metabolism.Cellular and molecular life sciences : CMLS · 2016Review
- Mitochondrial Haplogroup T Is Associated with Obesity in Austrian Juveniles and Adults.PloS one · 2015Article
- Opportunities and challenges for selected emerging technologies in cancer epidemiology: mitochondrial, epigenomic, metabolomic, and telomerase profiling.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013Review
- Mitochondria and cancer: past, present, and future.BioMed research international · 2013Review
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBecause mitochondria play an essential role in energy metabolism, generation of reactive oxygen species (ROS), and apoptosis, sequence variation in the mitochondrial genome has been postulated to be a contributing factor to the etiology of multifactorial age-related diseases, including cancer. The aim of the present study was to compare the frequencies of mitochondrial DNA (mtDNA) haplogroups as well as control region (CR) polymorphisms of patients with malignant melanoma (n = 351) versus those of healthy controls (n = 1598) in Middle Europe. METHODOLOGY AND PRINCIPAL
findingsUsing primer extension analysis and DNA sequencing, we identified all nine major European mitochondrial haplogroups and known CR polymorphisms. The frequencies of the major mitochondrial haplogroups did not differ significantly between patients and control subjects, whereas the frequencies of the one another linked CR polymorphisms A16183C, T16189C, C16192T, C16270T and T195C were significantly higher in patients with melanoma compared to the controls. Regarding clinical characteristics of the patient cohort, none of the nine major European haplogroups was associated with either Breslow thickness or distant metastasis. The CR polymorphisms A302CC-insertion and T310C-insertion were significantly associated with mean Breslow thickness, whereas the CR polymorphism T16519C was associated with metastasis. CONCLUSIONS AND SIGNIFICANCE: Our results suggest that mtDNA variations could be involved in melanoma etiology and pathogenesis, although the functional consequence of CR polymorphisms remains to be elucidated.
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