Genotype pattern of VDR gene in transfusion dependent HbE/β thalassemia with osteoporosis

This study was conducted to observe the genotype pattern of Vitamin D receptor ( VDR) gene in transfusion dependent HbE/β thalassemia and its association with osteoporosis. Genotype pattern of 3 polymorphisms; Bsm 1, Fok 1 and Taq 1 of VDR gene in 167 transfusion dependent HbE/β thalassemia patients were detected using Restriction Fragment Length Polymorphism-Polymerase Chain Reaction (RFLP-PCR). Osteoporosis status were assessed by measuring bone mineral density on both spine and left hip sites from 57 sample of the same pool of patients. Subsequently, association of osteoporosis with VDR genotype pattern was determined by binary logistic regression test using statistical analysis, SPSS version 22. Genotype pattern of 167 samples were; Bsm 1 polymorphism: (bb (52.1%), Bb (42.5%) and BB (5.4%), Fok1 polymorphism: FF (40.7%), Ff (47.3%) and ff (12.0%) and Taq1 polymorphism: TT (71.2%), Tt (27.6%) and tt (1.2%). Out of 57 samples, 63% showed osteoporosis of the spine and 29.8% of the left hip. Only Bsm 1 mutant genotype percentage was higher in the patients with osteoporosis (5.3%) compared to patients with normal to low bone mass (1.8%) (OR=1.765, CI=0.16-19.34, p-value =0.642). Bsm 1 polymorphism of VDR gene may be a potential genetic biomarker for early screening of osteoporosis in transfusion dependent HbE/β thalassemia. Keywords: Bsm1 polymorphism, transfusion dependent HbE/β thalassemia, osteoporosis