The Mitochondrial DNA Control Region might have useful Diagnostic and Prognostic Biomarkers for Thyroid Tumors

Bircan, Rıfat; Gözü, Hülya Ilıksu; Ulu, Esra Meltem Kayahan; Sarıkaya, Savaş; Gül, Aylin; Şirin, Duygu Yaşar; Özçelik, Serhat; Aral, Cenk

doi:10.1101/291435

Cited by 2 publications

(1 citation statement)

References 57 publications

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“…Recent study has indicated that mtDNA U haplogroup has more predisposition to benign and malign thyroid entities, and eight mtSNPs were shown to be associated with benign to malign thyroid tumor in Turkish population as well as they indicated that the D310 poly-C sequence might have a potential diagnostic biomarker for thyroid nodules (25). Therefore, these accumulated data with detected differences contribute to human population and evolutionary studies as well as giving valuable markers.…”

Section: A C a T G C T T A T G G T T A G Tmentioning

confidence: 92%

Identification of a novel mitochondrial DNA sequence variation within the human mitochondrial DNA Control Region in a population of Aegean population

Köseler¹

2019

Erciyes Med J

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Objective: Environmental impacts, history as well as established cultural regulations, and many more other factors had shaped broadly diverse structure of human genetic patterns. A control region of human mtDNA has served as a good genetic determination marker in many fields such as evolutionary studies and forensic genetics. The allelic variations of mtDNA have been studied in many populations including Turkish populations. Previous studies in Turkish populations lacked large cohorts. In this study, non-coding hypervariable regions of human mitochondrial DNA with extended population of Turkish individuals from Aegean region have been investigated. Materials and Methods: To detect sequence variants in human mtDNA control region, 100 unrelated Turkish subjects were examined. Results: The outcomes revealed 13 variable sites in hypervariable region I (HVRI) and 20 variable sites in hypervariable region II (HVRII). Polymorphisms within HVRI were detected at the positions of 16173 (C>A) and 16175 (A>G) with the allelic variation frequencies of 53% and 60%, respectively. A novel nucleotide transversion from cytosine to adenine at 16173 position was detected. Only 35% of subjects were aligned with the Cambridge Reference Sequence for the poly-cytosine tract that locates between 303 and 309 nucleotides, whereas 60% of individuals had 8 and 15% of them had 10 cytosine polynucleotides. 263G and 73G polymorphisms were evaluated with higher frequencies for the HVSII region. Conclusion: Overall, results indicate that the determination of genotype distributions and allelic variations frequencies of human mitochondrial genome are significant to characterize admixture populations from different ethnic origins.

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Section: A C a T G C T T A T G G T T A G Tmentioning

confidence: 92%

Identification of a novel mitochondrial DNA sequence variation within the human mitochondrial DNA Control Region in a population of Aegean population

Köseler¹

2019

Erciyes Med J

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Following the Trace of HVS II Mitochondrial Region Within the Nine Iranian Ethnic Groups Based on Genetic Population Analysis

et al. 2021

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The Iranian gene pool is seen as an important human genetic resource for investigating the region connecting Mesopotamia and the Iranian plateau. The main objective of this study was to explore gene flow in nine Iranian ethnic/subpopulation groups (402 samples) by examining mtDNA HVS2 sequence variations. This then allowed us to detect mtDNA HVS2 sequence mutations in two independent thalassemia and cystic fibrosis patient sample groups. The patient groups did not explicitly belong to any of the aforementioned nine subpopulations. Across all subpopulations, the haplogroups B4a1c3a, H2a2a1, N10b, H2a2a2, and J1 were seen to be predominant. High haplogroup diversities along with admixture of the exotic groups were observed in this study. The Arab subpopulation was shown to be independent from the others. It was revealed that there is a far distant relationship between Arab and Azeri groups. The thalassemia patient group, represented an almost random sample of most Iranian ethnic groups, and revealed few significant differences (P ˂ 0.05) in their HVS2 sequence. It turned out that the IVS II-I (G→A) mutation in the thalassemia β-globin gene was highly significant. Since the thalassemia patients in the present study represent many unique haplotypes, we can begin to comprehend the importance of mtDNA with this disease and the necessity for more studies in this context.

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The Mitochondrial DNA Control Region might have useful Diagnostic and Prognostic Biomarkers for Thyroid Tumors

Abstract: Background: It is currently present in the literature that mitochondrial DNA (mtDNA)

Cited by 2 publications

References 57 publications

Identification of a novel mitochondrial DNA sequence variation within the human mitochondrial DNA Control Region in a population of Aegean population

Identification of a novel mitochondrial DNA sequence variation within the human mitochondrial DNA Control Region in a population of Aegean population

Following the Trace of HVS II Mitochondrial Region Within the Nine Iranian Ethnic Groups Based on Genetic Population Analysis

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