ArticlePloS one2012
Sequence-based polymorphisms in the mitochondrial D-loop and potential SNP predictors for chronic dialysis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 42 citations in OpenAlex.
- Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery.Scientific reports · 2019Trial
- Genetic variants affecting mitochondrial function provide further insights for kidney disease.BMC genomics · 2024Article
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- Mitochondrial DNA Variants at Low-Level Heteroplasmy and Decreased Copy Numbers in Chronic Kidney Disease (CKD) Tissues with Kidney Cancer.International journal of molecular sciences · 2023Article
- ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.International journal of molecular sciences · 2023Review
- Associations of Mitochondrial Variants With Lipidomic Traits in a Chinese Cohort With Coronary Artery Disease.Frontiers in genetics · 2021Article
- A non-threshold region-specific method for detecting rare variants in complex diseases.PloS one · 2017Article
- Manganese-superoxide dismutase (Mn-SOD) overexpression is a common event in colorectal cancers with mitochondrial microsatellite instability.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Genetic risk factors affecting mitochondrial function are associated with kidney disease in people with Type 1 diabetes.Diabetic medicine : a journal of the British Diabetic Association · 2015Article
- An efficiency analysis of high-order combinations of gene-gene interactions using multifactor-dimensionality reduction.BMC genomics · 2015Article
- Next-generation sequencing of the mitochondrial genome and association with IgA nephropathy in a renal transplant population.Scientific reports · 2014Article
- Identification of sequence polymorphisms in the mitochondrial displacement loop as risk factors for sporadic and familial breast cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- Mitochondrial control region alterations and breast cancer risk: a study in South Indian population.PloS one · 2014Article
- Improved branch and bound algorithm for detecting SNP-SNP interactions in breast cancer.Journal of clinical bioinformatics · 2013Article
- Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe mitochondrial (mt) displacement loop (D-loop) is known to accumulate structural alterations and mutations. The aim of this study was to investigate the prevalence of single nucleotide polymorphisms (SNPs) within the D-loop among chronic dialysis patients and healthy controls. METHODOLOGY AND PRINCIPAL
findingsWe enrolled 193 chronic dialysis patients and 704 healthy controls. SNPs were identified by large scale D-loop sequencing and bioinformatic analysis. Chronic dialysis patients had lower body mass index, blood thiols, and cholesterol levels than controls. A total of 77 SNPs matched with the positions in reference of the Revised Cambridge Reference Sequence (CRS) were found in the study population. Chronic dialysis patients had a significantly higher incidence of 9 SNPs compared to controls. These include SNP5 (16108Y), SNP17 (16172Y), SNP21 (16223Y), SNP34 (16274R), SNP35 (16278Y), SNP55 (16463R), SNP56 (16519Y), SNP64 (185R), and SNP65 (189R) in D-loop of CRS. Among these SNPs with genotypes, SNP55-G, SNP56-C, and SNP64-A were 4.78, 1.47, and 5.15 times more frequent in dialysis patients compared to controls (P<0.05), respectively. When adjusting the covariates of demographics and comorbidities, SNP64-A was 5.13 times more frequent in dialysis patients compared to controls (P<0.01). Furthermore, SNP64-A was found to be 35.80, 3.48, 4.69, 5,55, and 4.67 times higher in female patients and in patients without diabetes, coronary artery disease, smoking, and hypertension in an independent significance manner (P<0.05), respectively. In patients older than 50 years or with hypertension, SNP34-A and SNP17-C were found to be 7.97 and 3.71 times more frequent (P<0.05) compared to patients younger than 50 years or those without hypertension, respectively. CONCLUSIONS AND SIGNIFICANCE: The results of large-scale sequencing suggest that specific SNPs in the mtDNA D-loop are significantly associated with chronic dialysis. These SNPs can be considered as potential predictors for chronic dialysis.
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