ArticleTurkish journal of urology2021
Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children.
Article in Turkish journal of urology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 8 citations in OpenAlex.
- Investigation of rs11568476 Polymorphism in theBiomedicines · 2025Article
- The role of claudins in homeostasis.Nature reviews. Nephrology · 2023Review
- Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management.International journal of nephrology and renovascular disease · 2023Review
- The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population.Urolithiasis · 2022Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveNephrolithiasis results from metabolic and anatomic abnormalities together with genetic factors. Claudin 14 (CLDN14) is a protein that regulates the passage of small solutes through the kidneys. Alkaline phosphatase (ALPL) hydrolyzes the pyrophosphate to free phosphate, proposing its enabling role in nephrolithiasis development. Solute carrier family 13 member 2 (SLC13A2) encodes Na+-Pi cotransporter 2a, which is responsible for the renal absorption of phosphate. We aimed to detect the association between CLDN14, ALPL, and SLC13A2 genetic variants and susceptibility to nephrolithiasis in the Egyptian pediatric population. MATERIAL AND
methodsWe enrolled 204 consecutive pediatric patients with nephrolithiasis, and 126 normal individuals served as controls. Real-time polymerase chain reaction analysis of CLDN14 rs219780, ALPL rs1256328, and SLC34A1 rs11746443 single-nucleotide polymorphisms (SNPs) was performed.
resultsWe found that individuals carrying the T allele of CLDN14 rs219780 and ALPL rs1256328 SNPs had a significantly higher risk of nephrolithiasis than the controls (p=0.001 and 0.001, respectively). Genetic association analyses identified that CLDN14 rs219780 and ALPL rs1256328SNPs were significantly associated with the nephrolithiasis status (odds ratio [OR] =4.51; 95% confidence interval [CI]=2.758-7.374; p=0.001 and OR=6.088; 95% CI=3.651-10.152; p=0.001, respectively). The sequence variant ALPL rs1256328 T allele had a significant correlation with the increased serum alkaline phosphatase levels in children with nephrolithiasis (p=0.02). No significant association was found between SLC34A1 rs11746443 SNP and the risk of nephrolithiasis (p=0.5).
conclusionCLDN14 rs219780 and ALPL rs1256328 SNPs might raise the risk of nephrolithiasis in Egyptian children, and might be used as genetic markers in these patients.
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