COLIA gene in osteoporosis
Last reviewed 01/2018
COLIA1 and COLIA2 code for type I collagen (the major protein in bones) (1)
A point polymorphism (G->T) in a regulatory sequence for the COLIA1 gene was found to be significantly linked with risk for osteoporosis. The polymorphism is at a binding site for the transcription factor Sp1 (2)
- polymorphism affecting the transcription factor Sp1 binding site has been reported commonly in Caucasian population but rare in the Africans and the Chinese (2)
The wild type sequence is termed S (G instead of T). The polymorphic sequence is termed s (T instead of G).
Rank order of bone density in women is: SS > Ss > ss
Over half of patients with severe osteoporosis and vertebral fractures are ss or Ss, compared with a quarter of controls.
The risk of vertebral fractures in ss or Ss patients is almost three times higher than SS patients.
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