BMP-2 Polymorphism c.893T>A (rs235768) Does Not Affect Bone Mineral Density in Female Population of Lahore

Osteoporosis is systemic skeletal disease in which there is a progressive microarchitectural deterioration of bone tissue, generalized reduction in bone mineral density and this increases the person’s susceptibility to fractures. It is a polygenic condition in which many genes and environmental factors play key role. Bone morphogenetic protein-2 (BMP-2) plays a key role in osteoblast differentiation. In the present study, polymorphism c.893T>A, in BMP2 gene was assessed for its association with bone mineral density (BMD) variation in osteoporotic female population. Total 50 subjects were initially registered and on basis of BMD, 31 and 19 were diagnosed as osteoporotic and non-osteoporotic individuals, respectively. DNA was isolated from blood samples and 353 bp fragment having site of c.893T>A variation was amplified. RFLP was done using BsrI enzyme, to determine the genotype at locus c.893T>A. Osteoporotic group had the higher average age and more number of post-menopausal females. Nevertheless, none of the non-genetic factors that were investigated reached statistically significant association with BMD. Heterozygote genotype, AT, was the most prevalent genotype at this locus and variant homozygote, TT, was the least frequent. Females having variant genotype TT had 14.4% higher BMD than the subjects having wild type genotype, AA. However, genotype at this locus was not found tobe significantly associated with low BMD, thus it does not contribute to osteoporotic phenotype.