Dataset Information

Association study of CLDN14 variations in patients with kidney stones.

ABSTRACT: Claudin-14 protein plays an essential role in regulating calcium ions in the kidney and ear. Two phenotypes, hearing loss and kidney stones, were reportedly associated with variations in the CLDN14 gene. This study aimed to understand CLDN14 mutations' contribution to hearing loss and renal stone formation in a Pakistani cohort. We analyzed CLDN14 sequence variations in 100 patients, along with healthy individuals, to assess whether specific polymorphisms were associated with the disease. Also, we performed an in silico analysis using a mutation database and protein annotation. The rs219779's genotype CT (p = 0.0020) and rs219780's genotype AG (p = 0.0012) were significantly associated with kidney stones. We also found that a novel haplotype, "TA" associated with kidney stone formation, has moderate linkage disequilibrium. The TA haplotype was significantly correlated with a kidney stone risk formation of 3.76-fold (OR (CI 95%) = 3.76 (1.83-7.72)) and p = 0.0016 compared to other haplotypes. In silico analysis revealed that mutations associated with hearing loss were not correlated with renal stone formation but affected claudin-14 protein stability. We structurally mapped a novel TA haplotype of CLDN14 that, based on our analysis, likely contributes to the pathogenesis of renal stones.

SUBMITTER: Ullah I

PROVIDER: S-EPMC8886595 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association study of CLDN14 variations in patients with kidney stones.

Ullah Ihsan I Murtaza Khadijah K Ammara Hafiza H Misbah Bhinder Munir Ahmad MA Riaz Amjad A Shehzad Wasim W Zahoor Muhammad Yasir MY

Open life sciences 20220228 1

Claudin-14 protein plays an essential role in regulating calcium ions in the kidney and ear. Two phenotypes, hearing loss and kidney stones, were reportedly associated with variations in the CLDN14 gene. This study aimed to understand CLDN14 mutations' contribution to hearing loss and renal stone formation in a Pakistani cohort. We analyzed CLDN14 sequence variations in 100 patients, along with healthy individuals, to assess whether specific polymorphisms were associated wit ...[more]

PMID: 35291565

Similar Datasets

Project description:Background and objectiveThere is limited literature on the relationship between cardiovascular health (CVH) and kidney stones. This study aims to compare the association of Life's Simple 7 (LS7) and Life's Essential 8 (LE8) with kidney stone prevalence.MethodsA cross-sectional analysis was conducted utilizing NHANES data (2007-2018). Participants aged ≥20 yr with a history of kidney stones and available LS7 and LE8 scores were included. Both LS7 and LE8 are scored such that higher scores indicate better CVH. Weighted proportions and multivariable logistic regression models assessed the relationship between CVH metrics and kidney stone prevalence, adjusting for confounders. The receiver operating characteristic (ROC) curve and the area under the ROC curve (AUC) were determined to distinguish between LS7 and LE8 in terms of their discriminative ability within the model associated with kidney stones.Key findings and limitationsA total of 23 563 adults were included; the mean age was 48.1 yr (48.1% male). Kidney stone prevalence was 10.1%. The mean LS7 and LE8 scores were 8.4 and 68.6, respectively. A multivariate analysis and the restricted cubic spline model indicated a significant nonlinear negative correlation between these CVH measures and kidney stone prevalence. The LS7 ideal group showed a lower prevalence than the poor group (odds ratio [OR] = 0.53; 95% confidence interval [CI] 0.41-0.69). The high CVH group had a lower prevalence than the low CVH group (OR = 0.46; 95% CI 0.36-0.57). The AUCs for evaluating LS7 and kidney stones, as well as for LE8 and kidney stones were 0.676 and 0.677, respectively. Limitations were as follows: cross-sectional design limiting causal inference, recall bias from self-reported data, and potential residual confounding.Conclusions and clinical implicationsBoth CVH algorithms show a significant nonlinear negative correlation with kidney stone prevalence. LS7 may be more accessible for broader implementation. Further high-quality prospective studies are needed to clarify this relationship.Patient summaryIn this study, we explored the connection between heart health and kidney stones using data from a large national survey. We found that better heart health, measured by two different scoring methods, is linked to a lower chance of having kidney stones. Our results suggest that promoting heart health could help reduce the risk of kidney stones in adults.

Project description:ObjectiveThis study aimed to investigate the association between weight-adjusted waist index (WWI), a novel adiposity index, and kidney stone (KS).MethodsData were obtained from the National Health and Nutrition Examination Survey 2007-2018. According to the history of KS, participants were divided into the non-stone group and the stone group. Weighted multivariable logistic regression analyses were used to evaluate the correlation between WWI and KS in unadjusted, partially adjusted, and all-adjusted models. A restricted cubic spline (RCS) analysis assessed the association between continuous WWI and KS risk and obtained the risk function inflection point. Then, subgroup analysis based on the risk function inflection point was conducted to dissect the association in specific subgroups. In addition, the above analyst methods were repeatedly performed in populations after propensity score matching (PSM). The receiver operating characteristic (ROC) curve was applied to compare the ability to predict KS occurrence among WWI, visceral adiposity index (VAI), and body mass index (BMI).ResultsWeighted multivariable logistic regression analyses found a positive association between continuous WWI and KS risk in the all-adjusted model [odds ratio (OR) = 1.03; 95% confidence interval (CI), 1.02-1.04; P < 0.001]. In further analysis, the Q4 WWI group was linked to the highest KS risk when compared to the Q1-Q3 group (OR = 1.06; 95% CI, 1.05-1.08, P < 0.001). RCS analysis found a linear significant correlation between continuous WWI and KS risk, and the risk function inflection point is 11.08 cm/√kg. Subgroup analysis confirmed that WWI was associated with KS risk in different groups. After PSM, increased WWI was still related to a high risk of KS. Moreover, the ROC curve demonstrated that WWI has a higher predictive ability of KS occurrence than VAI and BMI (area under curve, 0.612 vs. 0.581 vs. 0.569).ConclusionIn the US adult population, elevated WWI value was associated with an increased risk of KS. Furthermore, WWI was a better predictor of KS occurrence than VAI and BMI.

Dataset Information

Association study of CLDN14 variations in patients with kidney stones.

Publications

Association study of <i>CLDN14</i> variations in patients with kidney stones.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets