A Study On The Association Of The Vitamin D Receptor Gene Start Codon Polymorphism With Vitamin D Deficiency Rickets

Objective To detect the association betweenvitamin D receptor (VDR) gene start codon polymorphism and nutritional rickets. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), gene sequence and genetic analysis methods were used. A restriction fragment length polymorphism in the start codon of vitamin D receptor gene (Fok I) was tested for association with nutritional rickets risk in 48 children with active nutritional rickets and 92 subjects representative of the community from which the rachitic children came. Results Frequencies of FF, Ff and ff genotype are 46%, 33% and 21% in the rickets group, and 22%, 52% and 26% in the control group respectively. A significant difference is found in the frequency distribution of VDR genotype between twogroups(x2=8.912,p=0.012). the FF genotype in nutritional rickets group was more common than control (OR=3.046).indicating that FF genotype is significant associated with nutritional rickets. Moreover, VDR allele frequencies of Fok I polymorphism also showed significant difference between two groups (x2=5.451, p=0.020). Conclusion there is association between vitamin D receptor gene start codon polymorphism and nutritional rickets. This study raise the possibility that VDR gene polymorphism might be important in determining an individual's susceptibility to developing rickets.