Objective: To investigate the potential contribution of parathyroid hormone (PTH) gene polymorphisms in kidney stone disease (KSD), a global clinical problem impacting major burden on public health care system worldwide.
Methods: A case-control study was performed in West Bengal (India) with 152 patients reported with calcium-rich stone in kidney and 144 corresponding normal healthy individuals as controls. To identify genetic variants of PTH, the entire coding region, exon-intron boundaries and a few hundred nucleotides downstream the exon 3 (3' UTR region) was bi-directionally sequenced for all the study participants.
Results: Two intronic (rs694 and rs6254) and one synonymous (rs6256, located in exon 3) variant were identified along with 2 single nucleotide polymorphisms (SNPs) (rs307247 and rs307248) in the 3' UTR of the PTH gene. Allele and genotype frequency analysis of these SNPs revealed that rs6254 and rs6256 had moderate association with increased risk of KSD. The 2 SNPs (rs307247 and rs307248) of the 3' UTR, which were in strong linkage disequilibrium, were found to be significantly associated with kidney stone risk in the population of West Bengal, India.
Conclusion: This is the first time report in the world, regarding association of PTH gene polymorphisms with KSD. Our finding suggests that PTH gene polymorphisms can be used as potential genetic markers for early detection of KSD and for preventing its occurrence. Additional studies with larger sample size are essential to validate our result.
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