Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children.
OBJECTIVE
Polymorphism in the Vitamin D Receptor (VDR) gene has recently been reported to be associated with calcium metabolism disorders. This study was conducted to investigate the association of VDR gene polymorphism with the risk of calcium nephrolithiasis.


METHODS
We investigated the VDR ApaI, BsmI and TaqI polymorphisms, in relation to serum calcium, phosphate, intact parathyroid hormone and 1.25(OH)(2)D(3) in 64 hypercalciuric stone-forming children and 90 healthy children. DNA was isolated from peripheral blood, and genotyping was performed with PCR-based methods.


RESULTS
The frequency of ApaI AA genotype was significantly higher in the children with calcium nephrolithiasis than the controls (chi(2)=9.5; p=0.008). The distribution of BsmI and TaqI genotypes in stone-forming patients was similar to those in the control group. There was a significant association between TaqI TT genotype and the strength of the family history. The patients with TT genotype were observed to have a 8 times more risk than patients with Tt/tt genotype for recurrent stone episodes (OR 8, 95%CI 1.61-39.6).


CONCLUSIONS
VDR genotype determination may provide a tool to identify individuals who are at a risk for calcium nephrolithiasis.
Ozkaya
Ozan
O
Department of Pediatric Nephrology, Gazi University School of Medicine, Ankara, Turkey. ozanozkaya@yahoo.com
Söylemezoğlu
Oğuz
O
Misirlioğlu
Müge
M
Gönen
Sevim
S
Buyan
Necla
N
Hasanoğlu
Enver
E
D000293:Adolescent; D017677:Age Distribution; D002130:Calcium Phosphates / Q000378:metabolism*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D016001:Confidence Intervals; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007669:Kidney Calculi / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011336:Probability; D018167:Receptors, Calcitriol / Q000235:genetics*; D012016:Reference Values; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D017678:Sex Distribution; D018709:Statistics, Nonparametric
D002130:Calcium Phosphates; D005819:Genetic Markers; D018167:Receptors, Calcitriol; C485828:alpha-tricalcium phosphate; C485830:tetracalcium phosphate; C485838:calcium phosphate, monobasic, anhydrous; C020243:calcium phosphate; C485829:calcium phosphate, dibasic, anhydrous