Transforming growth factor β1 gene polymorphism in postmenopausal osteoporosis

Abstract

Objective. Transforming growth factor β1 (TGF β1) prevails among growth factors in bone. It is produced by osteoblasts and is able to hamper osteoclast proliferation, activate and stimulate osteoblasts precursors proliferation and differentiation. At present several polymorphisms located in different regions of its sequence have been described for this gene. Several studies have shown an association between some polymorphisms of this gene and bone mass. The objective of the present study was to examine relationship between C-509T polymorphism located in gene TGF β1 promoter region with bone mineral density(BMD). There are only a few studies of relationship of this polymorphism with bone mass 23in European population. Such data for Russian population are not available.Material and methods. C-509T polymorphism was studied with PCR analysis in 159 pts with osteoporosis and in 152 healthy individuals. BMD was assessed in thoracic spine and standard regions of proximal femur with an X-ray bone densitometer.Results. C-509T allele frequencies and genotypes distribution were similar in osteoporosis and control. Mean femur neck BMD in women with osteoporosis was significantly higher in carriers of homozygote CC and heterozygote CT genotypes in comparison with homozygote TT genotype: 0,617±0,091 g/sm2, 0,626±0,064 g/sm2 and 0,555±0,074 g/sm2 respectively (p<0,005, ANOVA). Similar differences of BMD values between these genotypes were found in different femur regions and the whole femur. BMD analysis in CC+CT genotype carriers revealed presence of higher mean BMD values in all femur regions in comparison with TT genotype carriers among women with osteoporosis. Homozygote mutant genotype was not associated with fracture risk.

Keywords

• osteoporosis
• bone mineral density
• snp tgf β1 gene polymorphism