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Claudin-14 Gene Polymorphisms and Urine Calcium Excretion
Teresa Arcidiacono1, Marco Simonini1, Chiara Lanzani1
1Nephrology and Dialysis Unit, IRCCS San Raffaele Scientific Institute, Genomics of Renal Diseases and Hypertension Unit, Vita Salute San Raffaele University, Milan, Italy.
Clinical Journal of the American Society of Nephrology : CJASN
|September 21, 2018
Summary
Single-nucleotide polymorphisms in the claudin-14 gene are linked to 24-hour urine calcium excretion and responses to saline infusion. These findings highlight claudin-14
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Claudin-14, -16, and -19 proteins regulate divalent cation reabsorption in the kidney.
- Claudin-14 genetic variations are implicated in kidney stones and calcium excretion.
- Understanding these genetic links is crucial for kidney stone prevention and management.
Purpose of the Study:
- To investigate the association between single-nucleotide polymorphisms (SNPs) in claudin-14, claudin-16, and claudin-19 genes and urinary calcium excretion.
- To determine if these SNPs correlate with kidney stone formation.
- To explore the functional impact of associated SNPs on gene expression.
Main Methods:
- Retrospective observational study of 393 hypertensive patients.
- Measurement of 24-hour urine calcium excretion.
- Saline infusion test to assess calcium excretion response.
- Genotyping of claudin-14, -16, and -19 SNPs from a prior genome-wide association study.
Main Results:
- Thirty-one SNPs in the 3' region of the claudin-14 gene were significantly associated with 24-hour calcium excretion and post-saline infusion calcium excretion.
- The SNP rs219755 in claudin-14 showed a strong association with varying levels of calcium excretion (P<0.001 for 24-hour, P=0.03 for saline infusion).
- No significant associations were found between claudin-16/ -19 SNPs and calcium excretion, nor between any of the studied claudin SNPs and kidney stones.
Conclusions:
- Claudin-14 genotype, specifically at the 3' region, is significantly associated with urinary calcium excretion.
- The identified claudin-14 SNPs may influence gene splicing, potentially affecting calcium regulation.
- Further research is warranted to elucidate the precise mechanisms linking claudin-14 variants to calcium homeostasis.
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