Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease.

Abstract

OBJECTIVE:

To assess the use of Fok I polymorphism (the most frequent polymorphism, at the start codon of the vitamin D receptor gene, VDR) as a convenient genetic marker in identifying the cause of urolithiasis.

PATIENTS, SUBJECTS AND METHODS:

A normal control group of 90 healthy subjects and 146 patients with calcium oxalate stones were examined. Using polymerase chain reaction (PCR)-based restriction analysis, the relationship between Fok I polymorphism and urolithiasis was evaluated. An unexcisable length of 265 bp was identified (allele CC) and two fragments (169 bp and 96 bp) identified as excisable lengths (allele TT).

RESULTS:

There was a statistically significant difference between the groups (chi-square test, P < 0.05) for the genotype of the VDR Fok I start codon polymorphism. The odds ratio (95% confidence interval) for the C allele in those at risk of stone disease was 1.672 (1.149-2.432).

CONCLUSIONS:

These results suggest that the VDR Fok I start codon polymorphism may be a good candidate for a genetic marker in calcium oxalate stone disease.

• Authors: W C Chen, H Y Chen, H F Lu, C D Hsu, F J Tsai
• Journal: BJU international (BJU Int) Vol. 87 Issue 3 Pg. 168-71 (Feb 2001) ISSN: 1464-4096 [Print] England
• PMID: 11167636 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon
• Receptors, Calcitriol
• Calcium Oxalate

Topics

• Adult
• Aged
• Calcium Oxalate
• Codon (genetics)
• Female
• Humans
• Male
• Middle Aged
• Polymerase Chain Reaction (methods)
• Polymorphism, Genetic
• Receptors, Calcitriol (genetics)
• Risk Factors
• Urinary Calculi (genetics)