Association of Single Nucleotide Polymorphisms in KCNA10 and SLC13A3 Genes with the Susceptibility to Chronic Kidney Disease of Unknown Etiology in Central Indian Patients

Kumari, Ravita; Tiwari, Shikha; Atlani, Mahendra; Anirudhan, Athira; Goel, Sudhir K.; Kumar, Ashok

doi:10.1007/s10528-023-10335-7

Cited by 8 publications

(3 citation statements)

References 35 publications

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“…[16]. Notably, we found a signi cant association of single nucleotide polymorphism in a gene coding for sodium-dependent dicarboxylate transporter (SLC13A3) with the susceptibility to CKDu [17]. Different levels of As exposure may also be responsible for the difference in blood As levels in three groups, though no signi cant differences were observed in the diet and water source of these groups.…”

Section: Discussionmentioning

confidence: 80%

Heavy metal association with chronic kidney disease of unknown cause in central India-results from a case control study

Atlani

Kumar

Ahirwar

et al. 2023

Preprint

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Background Chronic Kidney Disease of unknown cause (CKDu) a disease of exclusion, and remains unexplained in various parts of world including India. Previous studies have reported mixed findings about the role of heavy metals or agrochemicals in CKDu. These studies compared CKDu with healthy controls, but lacked subjects with CKD as controls. The purpose of this study was to test hypothesis whether heavy metals i.e. Arsenic (As), Cadmium (Cd), Lead (Pb) and Chromium (Cr) are associated with CKDu, in central India.Methods The study was conducted in case-control manner at a tertiary care hospital. CKDu cases (n = 60) were compared with CKD (n = 62) and healthy subjects (n = 54). Blood and urine levels of As, Cd, Pb and Cr were measured by Inductively Coupled Plasma- Optical Emission Spectrometry. Pesticides use, pain killers, smoking and alcohol addiction were also evaluated. The median levels of blood and urine metals were compared among the groups by Kruskal-Wallis rank sum test.Result CKDu had significantly higher pesticide use. Blood As levels (median, IQR) were significantly higher in CKDu 91.97 (1.3-132.7) µg/L compared to CKD 4.5 (0.0-58.8) µg/L and healthy subjects 39.01 (4.8–67.4) µg/L (p < 0.001). Urine Cd was higher in CKD 1.0 (0.3–1.7) µg/L compared to CKDu 0.5 (0.0-1.5) µg/L with a trend (p-0.06) of significance. Blood and urinary Pb and Cr were higher in CKD compared to CKDu (P = 0.5). Urinary Cd, Pb and Cr were undetectable in healthy subjects and were significantly higher in CKDu and CKD compared to healthy subjects (P = < 0.001).Conclusion The study showed a significant association of As with CKDu and a trend of association of Cd with CKD in this Indian cohort. Subjects with renal dysfunction (CKDu and CKD) have significantly higher metal burden of Pb, Cd, As, Cr as comparedto healthy controls.

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Section: Discussionmentioning

confidence: 80%

Heavy metal association with chronic kidney disease of unknown cause in central India-results from a case control study

Atlani

Kumar

Ahirwar

et al. 2023

Preprint

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“…Previous research using Genome Wide Association Studies (GWAS) in Sri Lanka and India have reported the association of genetic variants in the sodium-dependent dicarboxylate transporter member 3 (SLC13A3) and a voltage-gated K channel (KCN10A) with CKDnt. 3,4,5 SLC13A3 gene encodes a transporter located in the basolateral membranes of human renal proximal tubules which could influence the development of the disease, although this remains to be investigated and clarified. KCNA10 is a potassium channel located in the glomerular endothelium and in the apical membrane of renal proximal tubular cells.…”

Section: Introductionmentioning

confidence: 99%

Exome Analysis PointsAPOE4Haplotype as Major Risk to Develop Mesoamerican Nephropathy

Landires,

Courville,

Pimentel-Peralta

et al. 2024

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The present study aims to characterize the genetic predisposition for the development of Mesoamerican Nephropathy (MeN) in patients from Panama. A Whole Exome Sequencing approach was performed in patients diagnosed with MeN using the criteria of the Pan American Health Organisation (PAHO), and clinical variables were analysed in all patients and in a group of exposed healthy donors and a group of non-exposed healthy donors. We found a variant located in the APOE gene (rs429358 c.388T>C p.(Cys130Arg), identified in 26% (16/61) of patients with MeN, that corresponds to the APOE4 haplotype. In the group of patients with the APOE4 haplotype we have identified that uric acid is elevated when compared to the group of patients without the haplotype. To the best of our knowledge, this is the first study to find variants in the APOE gene as an important genetic risk factor in patients with MeN. These patients have higher hyperuricemia than patients without the variant, which would indicate an important role of uric acid in the pathophysiology of the disease, suggesting the potential use of uric acid-lowering drugs in these patients.

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“…Something that draws attention in relation to CKDnt is that it seems to occur more frequently in certain populations compared to others, so there could be some genetic susceptibility in certain populations for the development of this disease. A study in a population from India reported that some polymorphisms in the KCNA10 (Potassium Voltage-Gated Channel Subfamily A Member 10) and SLC13A3 (Solute Carrier Family 13 Member 3) genes are associated with a predisposition to develop CKDnT in this population [ 11 ]. We decided to study the possible role of NOS3 gene variants in the genetic predisposition of our population to develop CKDnT.…”

Section: Introductionmentioning

confidence: 99%

Association between the Polymorphisms rs2070744, 4b/a and rs1799983 of the NOS3 Gene with Chronic Kidney Disease of Uncertain or Non-Traditional Etiology in Mexican Patients

et al. 2023

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Background and Objectives: Chronic Kidney Disease of uncertain or non-traditional etiology (CKDnT) is a form of chronic kidney disease of undetermined etiology (CKDu) and is not associated with traditional risk factors. The aim of this study was to investigate the association of polymorphisms rs2070744, 4b/a and rs1799983 of the NOS3 gene with CKDnT in Mexican patients. Materials and Methods: We included 105 patients with CKDnT and 90 controls. Genotyping was performed by PCR-RFLP’s, genotypic and allelic frequencies were determined and compared between the two groups using χ2 analysis, and differences were expressed as odd ratios with 95% confidence intervals (CI). Values of p < 0.05 were considered statistically significant. Results: Overall, 80% of patients were male. The rs1799983 polymorphism in NOS3 was found to be associated with CKDnT in the Mexican population (p = 0.006) (OR = 0.397; 95% CI, 0.192–0.817) under a dominant model. The genotype frequency was significantly different between the CKDnT and control groups (χ2 = 8.298, p = 0.016). Conclusions: The results of this study indicate that there is an association between the rs2070744 polymorphism and CKDnT in the Mexican population. This polymorphism can play an important role in the pathophysiology of CKDnT whenever there is previous endothelial dysfunction.

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Association of Single Nucleotide Polymorphisms in KCNA10 and SLC13A3 Genes with the Susceptibility to Chronic Kidney Disease of Unknown Etiology in Central Indian Patients

Cited by 8 publications

References 35 publications

Heavy metal association with chronic kidney disease of unknown cause in central India-results from a case control study

Heavy metal association with chronic kidney disease of unknown cause in central India-results from a case control study

Exome Analysis PointsAPOE4Haplotype as Major Risk to Develop Mesoamerican Nephropathy

Association between the Polymorphisms rs2070744, 4b/a and rs1799983 of the NOS3 Gene with Chronic Kidney Disease of Uncertain or Non-Traditional Etiology in Mexican Patients

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