Genetic Polymorphism in Vitamin D Receptor Gene and Risk of Rickets in Children in Zamfara State

Rickets, characterised by defective bone mineralisation in growing children, results from nutritional, genetic, or combined aetiological factors. Genetic variants in the vitamin D receptor (VDR) gene can impair vitamin D signalling and increase susceptibility to rickets even when dietary intake appears adequate. Nigeria, and particularly the North West region, reports high rickets prevalence among children, but the genetic contribution through VDR polymorphisms has not been studied in Zamfara State. This case-control study enrolled 80 children aged one to ten years with radiologically confirmed rickets attending Yariman Bakura Specialist Hospital, Gusau, Zamfara State, alongside 80 healthy children as controls. Genotyping of the VDR FokI (rs2228570) and BsmI (rs1544410) polymorphisms was performed using PCR-RFLP. Serum vitamin D levels and dietary calcium intake were also assessed. The FokI ff genotype was significantly more prevalent among rickets cases. Interaction between the ff genotype and low dietary calcium amplified rickets risk. These genetic findings complement nutritional intervention strategies currently employed in Zamfara State's childhood rickets control programme. Keywords: vitamin D receptor, VDR gene, rickets, children, Zamfara State