The results obtained until now can be divided into three sections: (1) genetic analysis of bone mass/size/geometry characteristics (OP) and traits related to hand OA; (2) pedigree-based investigation of circulating levels of calciotropic hormones, growth factors, cytokines, and biochemical indices of bone and cartilage remodelling; (3) linkage and linkage disequilibrium study of several candidate genes, such as estrogen receptor alpha, collagen type I alpha 1, genes related to extracellular inorganic pyrophosphate transport and OP/OA phenotypes, including biochemical variables.
We conclude that the COL1A1 Sp1 polymorphism is a functional genetic variant that predisposes to osteoporosis by complex mechanisms involving changes in bone mass and bone quality.
This population-based study indicates that COL1A1 Sp1 polymorphism may contribute to the development of osteoporosis in combination of osteoporosis risk factors in Turkish postmenopausal women.
This is consistent with a model whereby increased COL1A1 transcription predisposes to osteoporosis, probably by increasing production of the alpha 1 chain and disrupting the normal ratio of collagen type 1 alpha 1 and alpha 2 chains.