The COL1A1 rs1800012 polymorphism is associated with osteoporosis or fracture risk: a meta-analysis of 30 studies

Osteoporosis is a complex disease that is influenced by several genetic markers. Many studies have examined the link between the COL1A1 gene rs1800012 polymorphism and osteoporosis risk. However, the findings of these studies are contradictory. Therefore, we performed a meta-analysis to aggregate additional information and obtain increased statistical power to more efficiently examine this correlation.

A meta-analysis was conducted to evaluate the association between the COL1A1 rs1800012 (G > T) polymorphism and the risk of osteoporosis or fracture. A total of 30 case-control studies were included that contained 2,943 patients and 4,724 control subjects. The Stata 11.0 statistical software package was used to evaluate the odds ratio (OR) and 95% confidence interval.

Overall, the recessive and homozygote models showed no heterogeneity, with a significant fixed effect pooled OR (P < 0.001). Moreover, the allelic (P < 0.001), dominant (P < 0.001), and heterozygote (P = 0.002) models were associated with a significantly increased risk of osteoporosis or fracture by random effect analysis. Sub-group analyses revealed that all the hereditary models showed an increased risk of osteoporosis or fracture in a European population. Additionally, we found a significant association in the dominant (P = 0.035) and heterozygote (P = 0.030) models in North Americans. In addition, we observed an association between COL1A1 and osteoporosis and fracture risk.

Combined with data from previous studies, this meta-analysis suggested that COL1A1 is associated with osteoporosis or fracture risk.