Health & body · 2001
Is a variation in the vitamin D receptor gene associated with calcium oxalate urinary stones?
Yes. Patients with calcium oxalate stones and healthy controls differed significantly in their vitamin D receptor Fok I genotypes; the C was associated with higher odds of stone disease (odds ratio 1.672, 95% confidence interval 1.149–2.432).
Details
The study assessed whether Fok I polymorphism—the most frequent polymorphism at the start codon of the vitamin D receptor gene (VDR)—could serve as a convenient genetic marker for identifying the cause of urolithiasis.
In an observational patient–control comparison, researchers examined 146 patients with calcium oxalate stones and a control group of 90 healthy subjects. They evaluated the relationship between Fok I polymorphism and urolithiasis using polymerase chain reaction (PCR)-based restriction analysis. The analysis identified an uncleaved fragment of 265 bp, labeled allele CC, and two cleaved fragments of 169 bp and 96 bp, labeled allele TT.
The groups differed significantly in the genotype of the VDR Fok I start codon polymorphism (chi-square test, P < 0.05). The C allele was associated with higher odds of stone disease: the odds ratio was 1.672, with a 95% confidence interval of 1.149–2.432.
The researchers concluded that the VDR Fok I start codon polymorphism may be a good candidate genetic marker for calcium oxalate stone disease.
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