AI Article Synopsis
- Claudin-16 and -19 are proteins involved in the reabsorption of calcium in the kidneys, while claudin-14 decreases this process; genetic variations in these proteins may be linked to kidney stones and calcium levels in urine.
- A study involving 393 patients with hypertension looked into the relationship between specific genetic variations and 24-hour urine calcium excretion, measuring their calcium response to saline infusion.
- The research found that certain genetic variants were strongly associated with calcium excretion rates, particularly the variant rs219755, but no significant links were established between other genetic variations and calcium levels or kidney stones.
Article Abstract
Background And Objectives: Claudin-16 and -19 are proteins forming pores for the paracellular reabsorption of divalent cations in the ascending limb of Henle loop; conversely, claudin-14 decreases ion permeability of these pores. Single-nucleotide polymorphisms in gene coding for were associated with kidney stones and calcium excretion. This study aimed to explore the association of , , and single-nucleotide polymorphisms with calcium excretion.
Design, Setting, Participants, & Measurements: We performed a retrospective observational study of 393 patients with hypertension who were naïve to antihypertensive drugs, in whom we measured 24-hour urine calcium excretion; history of kidney stones was ascertained by interview; 370 of these patients underwent an intravenous 0.9% sodium chloride infusion (2 L in 2 hours) to evaluate the response of calcium excretion in three different 2-hour urine samples collected before, during, and after saline infusion. Genotypes of , , and were obtained from data of a previous genome-wide association study in the same patients.
Results: Thirty-one single-nucleotide polymorphisms of the 3' region of the gene were significantly associated with 24-hour calcium excretion and calcium excretion after saline infusion. The most significant associated single-nucleotide polymorphism was rs219755 (24-hour calcium excretion in GG, 225±124 mg/24 hours; 24-hour calcium excretion in GA, 194±100 mg/24 hours; 24-hour calcium excretion in AA, 124±73 mg/24 hours; <0.001; calcium excretion during saline infusion in GG, 30±21 mg/2 hours; calcium excretion during saline infusion in GA, 29±18 mg/2 hours; calcium excretion during saline infusion in AA, 17±11 mg/2 hours; =0.03). No significant associations were found among and single-nucleotide polymorphisms and calcium excretion and between , , and single-nucleotide polymorphisms and stones. Bioinformatic analysis showed that one single-nucleotide polymorphism at among those associated with calcium excretion may potentially influence splicing of transcript.
Conclusions: genotype at the 3' region is associated with calcium excretion in 24-hour urine and after the calciuretic stimulus of saline infusion.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218816 | PMC |
| http://dx.doi.org/10.2215/CJN.01770218 | DOI Listing |
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