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Abstract
To evaluate vitamin D receptor (VDR) gene polymorphisms in Korean patients so as to
identify the candidate genes associated with urinary stones. Urinary stones are a
multifactorial disease that includes various genetic factors.
A normal control group of 535 healthy subjects and 278 patients with urinary stones
was evaluated. Of 125 patients who presented stone samples, 102 had calcium stones
on chemical analysis. The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms were
evaluated using the polymerase chain reaction-restriction fragment length polymorphism
analysis. Allelic and genotypic frequencies were calculated to identify associations
in both groups. The haplotype frequencies of the VDR gene polymorphisms for multiple
loci were also determined.
For the VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms, there was no statistically
significant difference between the patients with urinary stones and the healthy controls.
There was also no statistically significant difference between the patients with calcium
stones and the healthy controls. A novel haplotype (Ht 4; CTTT) was identified in
13.5% of the patients with urinary stones and in 8.3% of the controls (P = .001).
The haplotype frequencies were significantly different between the patients with calcium
stones and the controls (P = .004).
The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms does not seem to be candidate
genetic markers for urinary stones in Korean patients. However, 1 novel haplotype
of the VDR gene polymorphisms for multiple loci might be a candidate genetic marker.
Copyright 2010 Elsevier Inc. All rights reserved.