Molecular biology reports · 2026
Serum vitamin D and VDR genetic variation in kidney stone disease: haplotype and gene-environment interaction analyses in a genetically homogeneous population.
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Meitei Sanjenbam Yaiphaba, Yumnam Malvika, Singh Aheibam Robertson, Pebam Erika, Konjengbam Henry, Shantajit Nameirakpam, Paonam Somorendro Singh
Аннотация
BACKGROUND: Serum vitamin D status and vitamin D receptor (VDR) genetic variation may contribute to kidney stone disease (KSD) susceptibility, although their combined effects remain poorly understood. This study investigated the independent and combined effects of serum vitamin D status and VDR genetic variation on KSD susceptibility in a genetically homogeneous population.
METHODS: A case-control study was conducted on 267 KSD patients and 296 metabolically screened controls. Serum 25-hydroxyvitamin D was measured, and VDR ApaI, TaqI, and FokI polymorphisms were genotyped by PCR-RFLP. Haplotype, linkage disequilibrium, ROC, and additive gene-environment interaction analyses were performed.
RESULTS: Individual VDR polymorphisms were not significantly associated with KSD. However, elevated serum vitamin D was strongly associated with disease risk (OR = 12.55, 95% CI: 4.70-33.54; p < 0.001). ROC analysis identified an optimal vitamin D cut-off of 35.84 ng/mL (AUC = 0.816). Haplotype analysis identified GCC as a risk haplotype (OR = 4.08, 95% CI: 2.47-6.72), whereas GCT (OR = 0.21, 95% CI: 0.10-0.46) was protective. Additive interaction analyses demonstrated positive interactions between elevated serum vitamin D and the ApaI GT and FokI CC/CT genotypes, while TaqI variants showed antagonistic interactions.
CONCLUSION: The study highlights that VDR haplotypes and serum vitamin D-VDR genotype interactions substantially modified disease risk, suggesting that integrating biochemical and genetic markers may improve KSD risk assessment and support precision prevention strategies.
METHODS: A case-control study was conducted on 267 KSD patients and 296 metabolically screened controls. Serum 25-hydroxyvitamin D was measured, and VDR ApaI, TaqI, and FokI polymorphisms were genotyped by PCR-RFLP. Haplotype, linkage disequilibrium, ROC, and additive gene-environment interaction analyses were performed.
RESULTS: Individual VDR polymorphisms were not significantly associated with KSD. However, elevated serum vitamin D was strongly associated with disease risk (OR = 12.55, 95% CI: 4.70-33.54; p < 0.001). ROC analysis identified an optimal vitamin D cut-off of 35.84 ng/mL (AUC = 0.816). Haplotype analysis identified GCC as a risk haplotype (OR = 4.08, 95% CI: 2.47-6.72), whereas GCT (OR = 0.21, 95% CI: 0.10-0.46) was protective. Additive interaction analyses demonstrated positive interactions between elevated serum vitamin D and the ApaI GT and FokI CC/CT genotypes, while TaqI variants showed antagonistic interactions.
CONCLUSION: The study highlights that VDR haplotypes and serum vitamin D-VDR genotype interactions substantially modified disease risk, suggesting that integrating biochemical and genetic markers may improve KSD risk assessment and support precision prevention strategies.