The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations

Mueller, Edith E.; Eder, Waltraud; Ebner, Sabine; Schwaiger, Eva; Šantić, Danijela; Kreindl, Tanja; Stanger, Olaf; Paulweber, Bernhard; Iglseder, Bernhard; Oberkofler, Hannes; Maier, Richard; Mayr, Johannes A.; Krempler, Franz; Weitgasser, Raimund; Patsch, Wolfgang; Sperl, Wolfgang; Kofler, Barbara

doi:10.1371/journal.pone.0016455

Cited by 69 publications

(66 citation statements)

References 38 publications

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“…Additionally, the results agreed with the next following research in nucleotide behaviors that may be related to strength of the chemical bonds in spite of different area investigations also some of them called guanine an ancestral nucleotide as the most conserved nucleotide [51][52][53][54].…”

Section: Estimation Of Transition/transversion Matrix By Maximum Compsupporting

confidence: 86%

Maximum Likelihood Estimation of the Evolutionary Distance of Complete Genomes of Mitochondrial DNA between Human and 16 Animals

Ekinci¹

2017

MOJPB

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The mitochondrial DNA of vertebrates generally has same structure and functions, even share same numbers of genes, tRNAs, rRNAs and codon regions with different sequences in a narrow range of genome size. The resource of database was downloaded from the Genbank of National Center for Biotechnology Information (NCBI), and using a particular computational program to achieve the best results of alignment and statistical calculations to estimate the transition/ transversion in the nucleotide and amino acid substitution, additionally, estimate the evolutionary distance rate between Human versus 16 animals. The results of maximum likelihood method show high rates of substitutions mainly from adenine and thymine to cytosine and guanine (A=>C; A => G; T => C; T => G), respectively. Guanine (G) was the most conserved and stable nucleotide from changes in all over 17 organisms that may be related to the strength of the chemical bonds. The observation of evolutionary distance by the number of substitutions per site between sequences is shown for all three codon positions and non-codon regions. The scores put organisms in groups by comparing the numbers between pairs of sequence within difference and similarity, such as the human, chimpanzee, and gorilla had less distance among them, whilst, a remarkable likelihood between bison and the water buffalo were observed despite the historical and geographical distance between them. Additionally, studying the effect of substitution scores in nucleotide and amino acids on the synonymous/non-synonymous codon substitution in evolutionary distance bias was discussed. Keywords:

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Section: Estimation Of Transition/transversion Matrix By Maximum Compsupporting

confidence: 86%

Maximum Likelihood Estimation of the Evolutionary Distance of Complete Genomes of Mitochondrial DNA between Human and 16 Animals

Ekinci¹

2017

MOJPB

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“…It was reported that a T-C transition (termed as T16189C) occurred in ~30% of Asian people (24), forming a poly-C structure, which was reported to be a disease association research hotspot (25). However, no significant difference was identified in the frequency of T16189C between patients with AML and the controls (32.3 vs. 37.7%; P=0.324), as presented in Table IV.…”

Section: Association Between Mtdna D-loop Variations and Aml Riskmentioning

confidence: 91%

Sequence variations of mitochondrial DNA D‑loop region in patients with acute myeloid leukemia

Zhou

Gou

et al. 2017

Oncol Lett

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Abstract. The aim of the present study was to explore variations of the displacement (D)-loop region in patients with acute myeloid leukemia (AML) and their possible associations with AML pathogenesis. Blood or bone marrow samples from 216 patients with AML (158 AML patients in the first stage, and 58 more patients with AML-M3 for further verification), and 146 healthy controls were collected. Sanger sequencing was performed for the D-loop region ranging between nucleotide (nt)15811 and nt 775. With the exception of mitochondrial microsatellite instability (mtMSI) variations, a total of 2,630 variations in 232 loci were identified with similar variation rates/person in patients with AML and controls when compared with the revised Cambridge reference sequence (8.54±2.14 vs. 8.77±2.15; P=0.366). A positive association between AML and variation-T152C was identified, which occurred more frequently in patients with AML compared with in controls [26.6 vs. 17.1%; P=0.048; odds ratio (OR), 1.752; 95% confidence interval (CI), 1.004-3.058]. Furthermore, T152C was identified to be associated with promyelocytic leukemia-retinoic acid receptor α(PML-RARα) and French-American-British AML subtypes, with a tendency to occur in patients with AML-M3. The AML-M3 sample size was extended by 58 cases, and it was identified that the T152C variation rate was significantly higher in patients with AML-M3 compared with that of controls (41.0 vs. 17.1%; P<0.001; OR, 3.228; 95% CI, 1.714-6.079). However, no association was identified between the T152C variation and clinical characteristics, or chemotherapy response in patients with AML-M3. In addition, the mtMSIs, including D310, mt514-523 (CA) n and T16189C, demonstrated no association with AML risk. Together, the results of the present study suggest that the mitochondrial DNA D-loop region is high variable, and that T152C is associated with AML risk, particularly regarding the M3 subtype. T152C mayparticipate in AML pathogenesis and may be a diagnostic biomarker; however further studies with larger sample sizes are required in order to verify its value.

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“…The mitochondrial haplogroup [43] and CR polymorphism [29] data were obtained from previous studies.…”

Section: Methodsmentioning

confidence: 99%

Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians

et al. 2011

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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 SignificanceOur 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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The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations

Cited by 69 publications

References 38 publications

Maximum Likelihood Estimation of the Evolutionary Distance of Complete Genomes of Mitochondrial DNA between Human and 16 Animals

Maximum Likelihood Estimation of the Evolutionary Distance of Complete Genomes of Mitochondrial DNA between Human and 16 Animals

Sequence variations of mitochondrial DNA D‑loop region in patients with acute myeloid leukemia

Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians

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