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

Objective To detect the association between vitamin D receptor (VDR) gene polymorphism and vitamin D deficiency rickets. Methods Polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP), gene sequence and genetic analysis methods were used. The vitamin D receptor gene polymorphism in 34 children with active vitamin D deficiency rickets and 52 healthy children in the community from which the rachitic children came were tested by Apal and Taql endonuclease. Results The frequencies of AA. Aa> aa genotype are 17.6%. 50%. 32. 4% and frequencies of A . a allele are 42. 6%. 57.4% in the rickets group. But the frequencies of AA. Aa. aa genotype are 7. 7%. 28. 8%. 63. 5% and frequencies of A a allele are22. 1%. 77. 9% in the control group. The frequencies of TT. Tt. tt genotype are 88. 2%n 11.8%. 0% in the rickets group and 90. 4%. 9.6%, 0% in the control group respectively. The frequencies of T , t allele are 94. 1%. 5.9% in the rickets group and 95.2%. 4.8% in the control group respectively. A significant difference is found in the VDR genotype and allele frequenceies of Apal polymorphism, The AA. Aa genotypes and A allele are more common in rickets group than the control group, indicanting that A allele is significant associated with vitamin D deficiency rickets, but no significant difference was found in the VDR genotype and allele frequenceies of Taql polymorphism. Conclusion There is associationbetween vitamin D receptor gene Apal polymorphism and vitamin D deficiency rickets. This study raises the possibitity that VDR gene Apal polymorphism might be important in determining an individual' s susceptibility to rickets.