A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality
J. Clin. Invest. Val Mann, et al. 107:899 doi:10.1172/JCI10347 [Go to this article.]

Figure 4
Effect of the COL1A1 polymorphism on type I collagen protein production by primary human osteoblasts. (a) Representative samples derived from two patients showing the expected 2:1 ratio of α(I)1/α(I)2 chains in the “SS” homozygote and the increased relative abundance (2.3:1) of collagen α1(I)/α2(I) chains in the “Ss” heterozygote. (b) Cumulative data (mean ± SEM) from 14 “SS” homozygotes and 17 “Ss” heterozygotes.