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MTHFR C667T polymorphism marginally associated with fracture risk



DOI:10.1038/bonekey.2012.37

The C667T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene is thought to play a role in regulation of bone mineral density and so may affect bone fracture risk. Previous individual studies have failed to demonstrate an unequivocal link, so clarification was sought through a meta-analysis of 20 eligible published studies.

Studies were included if they had either a case-control or cohort design, they evaluated the association of the C667T polymorphism with fracture risk or BMD and they provided sufficient data to allow the odds ratio or weighted mean difference to be calculated with a 95% confidence interval (CI). The studies represented a total of 3525 cases and 17909 controls.

Analysis showed a marginal association between the RR genotype of the C667T polymorphism and an increased risk of fracture; this observation was also made in subpopulations of female subjects and people under 60, as well as in cohort studies from Europe and East Asia.

Editor's comment: This meta-analysis of 20 studies suggests that C667T polymorphism is marginally associated with fracture risk. It was modestly associated with BMD of lumbar spine (P=0.036). No association was found with femoral neck, total hip, and total body BMD.


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