Single nucleotide polymorphisms in the mitochondrial displacement loop and age-at-onset of familial breast cancer

Lee, Haiping; Chen, Geng; Cheng, Meng; Lee, Zheng; Guo, Zhanjun

doi:10.3109/19401736.2014.1003918

Cited by 8 publications

(5 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The hypervariable (HV) segment region of the D-loop has been identified as a somatic mutational “hotspot” in a number of diseases ( Hibi et al, 2001 ), all of the SS-risk related SNPs we have identified is located in this region (16304, 16311 and 16362 in HV-I, 152 in HV-II). Based on our previous studies, the 16304 allele associated with survival of Non-Hodgkin lymphoma, whereas 16311 and 16362 associated with age-related onset for both familial breast and non-small cell lung carcinoma ( Diao et al, 2015 ; Hu et al, 2015 ; Lee et al, 2016 ). The 152C allele was also shown to be substantially related to metastasis of malignant fibrous histiocytoma ( Luo et al, 2019 ).…”

Section: Discussionmentioning

confidence: 98%

Mitochondrial Displacement Loop Region SNPs Modify Sjögren’s Syndrome Development by Regulating Cytokines Expression in Female Patients

et al. 2022

Self Cite

View full text Add to dashboard Cite

Mitochondrial dysfunction could induce innate immune response with cytokines releasing to initiate Sjögren’s syndrome (SS) onset. Single nucleotide polymorphisms (SNPs) in the mitochondrial displacement loop (D-loop) and mitochondrial DNA (mtDNA) copy number of female SS patients were evaluated for their association with SS in female patients. At the nucleotide site of 152, 16304, 16311 and 16362 in the D-loop, the frequencies for the minor alleles of 152C (p = 0.040, odds ratio [OR] = 0.504), 16304C (p = 0.045, OR = 0.406), 16311C (p = 0.045, OR = 0.406) and 16362C (p = 0.028, OR = 0.519) were significantly higher in the SS patients than those in the female controls, which indicated that 152,C, 16304C, 16311C, and 16362C allele in the D-loop of mtDNA were associated with the risk of SS. Meanwhile, the excessive SNPs were accumulated in D-loop region of SS patients (8.955 ± 2.028 versus 7.898 ± 1.987, p < 0.001, 95% confidence interval [CI]: 0.477–1.637) and mtDNA copy number increased in SS patients (1.509 ± 0.836 versus 1.221 ± 0.506, p = 0.006, 95% CI: 0.086–0.490) by a case-control analysis. The subsequent analysis showed that SS risk-related allele 16311C was associated with higher IL-2 levels (p = 0.010) at significantly statistical level whereas 152C associated with lower IL-10 levels (p = 0.058) at a borderline statistical levels. Our findings suggest that mitochondrial D-loop SNPs are predictors for SS risk, it might modify the SS development by regulating cytokine expression.

show abstract

Section: Discussionmentioning

confidence: 98%

Mitochondrial Displacement Loop Region SNPs Modify Sjögren’s Syndrome Development by Regulating Cytokines Expression in Female Patients

et al. 2022

Self Cite

View full text Add to dashboard Cite

show abstract

“…mtDNA variations, particularly the control region, the D-loop region, have been reported to participate in carcinogenesis (27,28). Grist et al (19) sequenced the D-loop region in 22 patients with AML, and reported the majority of mtDNA mutations occurred during the growth of the leukemic clone, and evolved during AML progression; they tended to occur at hotspots rather than be randomly distributed.…”

Section: Discussionmentioning

confidence: 99%

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

Zhou

Gou

et al. 2017

Oncol Lett

View full text Add to dashboard Cite

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.

show abstract

“…Similarly, in the studies of Yao et al on leukemia patients, mtDNA variations were mostly observed in the control region [21]. In other studies; it has been claimed that the variations detected in D-Loop, the control region of mtDNA, contribute to the carcinogenesis process and are significantly associated with disease progression [22][23][24]. Cerezo et al argued that various variants detected in mtDNAs of CLL patients may cause mtDNA instability and that these variants may contribute to the tumoral process even if they cannot be shown as the primary cause of CLL [25].…”

Section: Discussionmentioning

confidence: 75%

Investigation of mitochondrial DNA polymorphisms in patients with hematological malignancy

Gökçe

Kahraman

Kıkı

et al. 2021

Turkish Journal of Clinics and Laboratory

View full text Add to dashboard Cite

Aim: Mitochondrial DNA (mtDNA) polymorphisms can be considered as a molecular marker in susceptibility to various types of cancer. In this study, we aimed to investigate the potential relationship of mtDNA polymorphisms with disease etiopathogenesis in patients with hematological malignancy. Material and Methods: This study was carried out with the participation of 80 patients diagnosed with hematological malignancy and 80 healthy individuals in the Department of Medical Genetics, Atatürk University. In all participants, 13 polymorphism regions of 6 coding genes of mtDNA were investigated by Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. SNPs evaluated in the study; NADH dehydrogenase subunit 5-13704 (C>T), Cytochrome b 15315 (C>T), 12S rRNA 740 (G>A) and 680 (T>C), Cytochrome C Oxidase I 7319 (T>C), -7444 (G>A), Cytochrome C Oxidase II 8252 (C>G), 7660 (G>A), 7975 (A>G), 8014 (A>G), 8113 (C>A), 8152 (G>A) and tRNA lysine 8310 (T>C) were identified as.Results: ND-5 13704 (C>T) polymorphism was statistically significant in patients with hematological malignancies compared to healthy controls (p = 0.001). There was no significant difference between patients and controls in other evaluated polymorphisms. Conclusion:Although the findings obtained from this study suggest that mtDNA ND-5 13704 (C>T) polymorphism may play a role in the etiopathogenesis of hematological malignancies, large-scale studies are needed to determine the importance of this polymorphic region.

show abstract

Single nucleotide polymorphisms in the mitochondrial displacement loop and age-at-onset of familial breast cancer

Cited by 8 publications

References 26 publications

Mitochondrial Displacement Loop Region SNPs Modify Sjögren’s Syndrome Development by Regulating Cytokines Expression in Female Patients

Mitochondrial Displacement Loop Region SNPs Modify Sjögren’s Syndrome Development by Regulating Cytokines Expression in Female Patients

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

Investigation of mitochondrial DNA polymorphisms in patients with hematological malignancy

Contact Info

Product

Resources

About