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Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones.
J Nephrol. 2002 Mar-Apr; 15(2):158-64.JN

Abstract

BACKGROUND

A linkage has been detected between vitamin D receptor (VDR) locus and calcium kidney stone disease. In order to assess the eventual role of VDR gene start codon polymorphisms in stone production, we analyzed the genotype-phenotype association in a group of patients with calcium kidney stones.

METHODS

One hundred and fifty-five patients were studied. VDR genotypes were characterized at the translation start site by restriction fragment length polymorphism analysis, using endonuclease FokI. Phenotypes of calcium-phosphate metabolism were compared in patients with different genotypes: strontium enteral absorption (used as a surrogate marker for calcium absorption), bone mineral density (BMD), calcium and phosphate excretion were measured.

RESULTS

Genotype distribution was not different in hypercalciuric and normocalciuric stone formers. Enteral strontium absorption, calcium excretion and BMD did not vary with the patient's genotype. Serum concentrations of phosphate (p=0.022) and renal threshold for phosphate excretion (p=0.026) were lower in patients with genotype FF (homozygous for the absence of the FokI site) than in those with genotype ff (homozygous for the presence of the FokI site). The lower phosphatemia was confirmed in FF hypercalciuric patients, but not in normocalciuric ones. Serum concentrations of phosphate and calcitriol in the group of hypercalciuric patients were inversely correlated with the genotype FF.

CONCLUSIONS

The FokI genotype does not appear to be involved in the causes of idiopathic hypercalciuria and kidney stones. Hypercalciuric patients with FF genotype may be a subgroup with low plasma concentrations of phosphate, predisposed to tubular leakage of phosphate.

Authors+Show Affiliations

Vezzoli G
Division of Nephrology Dialysis and Hypertension, San Raffaele Scientific Institute, Milan, Italy. vezzoli.giuseppe@hsr.it
Soldati L
No affiliation info available
Proverbio MC
No affiliation info available
Adamo D
No affiliation info available
Rubinacci A
No affiliation info available
Bianchi G
No affiliation info available
Mora S
No affiliation info available

MeSH

AdultCalciumCodon, InitiatorDeoxyribonucleases, Type II Site-SpecificFemaleGenotypeHumansKidney CalculiMaleMiddle AgedPolymorphism, GeneticReceptors, Calcitriol

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12018632

Citation

Vezzoli, Giuseppe, et al. "Polymorphism of Vitamin D Receptor Gene Start Codon in Patients With Calcium Kidney Stones." Journal of Nephrology, vol. 15, no. 2, 2002, pp. 158-64.
Vezzoli G, Soldati L, Proverbio MC, et al. Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones. J Nephrol. 2002;15(2):158-64.
Vezzoli, G., Soldati, L., Proverbio, M. C., Adamo, D., Rubinacci, A., Bianchi, G., & Mora, S. (2002). Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones. Journal of Nephrology, 15(2), 158-64.
Vezzoli G, et al. Polymorphism of Vitamin D Receptor Gene Start Codon in Patients With Calcium Kidney Stones. J Nephrol. 2002 Mar-Apr;15(2):158-64. PubMed PMID: 12018632.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones. AU - Vezzoli,Giuseppe, AU - Soldati,Laura, AU - Proverbio,Maria Carla, AU - Adamo,Donatella, AU - Rubinacci,Alessandro, AU - Bianchi,Giuseppe, AU - Mora,Stefano, PY - 2002/5/23/pubmed PY - 2003/1/8/medline PY - 2002/5/23/entrez SP - 158 EP - 64 JF - Journal of nephrology JO - J Nephrol VL - 15 IS - 2 N2 - BACKGROUND: A linkage has been detected between vitamin D receptor (VDR) locus and calcium kidney stone disease. In order to assess the eventual role of VDR gene start codon polymorphisms in stone production, we analyzed the genotype-phenotype association in a group of patients with calcium kidney stones. METHODS: One hundred and fifty-five patients were studied. VDR genotypes were characterized at the translation start site by restriction fragment length polymorphism analysis, using endonuclease FokI. Phenotypes of calcium-phosphate metabolism were compared in patients with different genotypes: strontium enteral absorption (used as a surrogate marker for calcium absorption), bone mineral density (BMD), calcium and phosphate excretion were measured. RESULTS: Genotype distribution was not different in hypercalciuric and normocalciuric stone formers. Enteral strontium absorption, calcium excretion and BMD did not vary with the patient's genotype. Serum concentrations of phosphate (p=0.022) and renal threshold for phosphate excretion (p=0.026) were lower in patients with genotype FF (homozygous for the absence of the FokI site) than in those with genotype ff (homozygous for the presence of the FokI site). The lower phosphatemia was confirmed in FF hypercalciuric patients, but not in normocalciuric ones. Serum concentrations of phosphate and calcitriol in the group of hypercalciuric patients were inversely correlated with the genotype FF. CONCLUSIONS: The FokI genotype does not appear to be involved in the causes of idiopathic hypercalciuria and kidney stones. Hypercalciuric patients with FF genotype may be a subgroup with low plasma concentrations of phosphate, predisposed to tubular leakage of phosphate. SN - 1121-8428 UR - https://www.unboundmedicine.com/medline/citation/12018632/Polymorphism_of_vitamin_D_receptor_gene_start_codon_in_patients_with_calcium_kidney_stones_ DB - PRIME DP - Unbound Medicine ER -