The vitamin D receptor (VDR) gene serves as a candidate gene for susceptibility to several diseases. The gene has a critical role in the modulation of bone mineral density in thalassemia patients. VDR gene polymorphisms are reported to be associated with an increased risk of thalassemia associated bone mineral density complications. The aim of this study was to assess the distribution of hVDR Fok1 polymorphism among thalassemia patient in Karachi. Thirty nine (39) thalassemia patients and 78 healthy controls were recruited for this study. Genomic DNA was extracted using kit method followed by amplification with VDR Fok1 specific primer and subjected to Restriction fragment length polymorphism (RFLP). Genotype distribution was assessed through Hardy Weinberg equilibrium while genotype association and risk was evaluated by Pearson chi square and odds ratio with 95% CI respectively. Our results showed that the genotype distribution of FokI VDR polymorphism was in HWE (χ2=0.392, P> 0.05) along with a non-significant association between cases and controls (X2 =0.484, P> 0.05). However, FF genotype and F allele seems to have a significantly greater risk of developing thalassemia associated bone mineral density complications.
Mehr un Nisa, Safoora Ahmed Khan, Saqib Hussain Ansari, Taseer Ahmed Khan. (2014) ASSOCIATION OF EXON 2 VITAMIN D RECEPTOR (FokI) GENE POLYMORPHISM AMONG THALASSEMIC PATIENTS IN KARACHI, , Volume 11, Issue 4.
