Osteoporosis International

, Volume 23, Issue 11, pp 2625–2634

Association of MTHFR C667T polymorphism with bone mineral density and fracture risk: an updated meta-analysis

Original Article

Abstract

Summary

This meta-analysis investigated the association of C677T polymorphism in MTHFR gene with bone mineral density (BMD) and fracture risk. The results suggested that C677T polymorphism was marginally associated with fracture risk. In addition, this polymorphism was modestly associated with BMD of lumbar spine, femoral neck, total hip, and total body, respectively.

Introduction

The methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the regulation of BMD and, thus, may serve as a potential risk factor for the development of fracture. However, results have been inconsistent. In this study, a meta-analysis was performed to clarify the association of C677T polymorphism in MTHFR gene with BMD and fracture risk.

Methods

Published literature from PubMed and EMBASE were searched for eligible publications. Pooled odds ratio (OR) or weighted mean difference (WMD) and 95% confidence interval (CI) were calculated using a fixed- or random-effects model.

Results

Twenty studies (3,525 cases and 17,909 controls) were included in this meta-analysis. The TT genotype of C677T polymorphism was marginally associated with an increased risk of fracture under recessive model (TT vs. TC + CC: OR = 1.23, 95% CI 1.04–1.47). Using this model, similar results were found among East Asians (OR = 1.40, 95% CI 1.07–1.83), female subpopulation (1.27, 95% CI 1.04–1.55), cohort studies (OR = 1.24, 95% CI 1.08–1.44), and subjects younger than aged 60 years (OR = 1.51, 95% CI 1.10–2.07). In addition, under homogeneous co-dominant model, there was a modest association of C677T polymorphism with BMD of lumbar spine (WMD = −0.017 g/cm2; 95%CI, −0.030−(−0.005) g/cm2), femoral neck (WMD = −0.010 g/cm2; 95% CI −0.017–(−0.003) g/cm2), total hip (WMD = −0.013 g/cm2, 95% CI −0.022–(−0.004) g/cm2), and total body (WMD = −0.020 g/cm2; 95% CI −0.027–(−0.013) g/cm2), respectively.

Conclusions

This meta-analysis suggested that C677T polymorphism was marginally associated with fracture risk. In addition, this polymorphism was modestly associated with BMD of lumbar spine, femoral neck, total hip, and total body, respectively.

Keywords

Bone mineral density Fracture Meta-analysis MTHFR Polymorphism 

Supplementary material

198_2011_1885_MOESM1_ESM.doc (80 kb)
Supplementary Table 1Characteristics of the studies included in the meta-analysis of the association between C667T polymorphism in the MTHFR gene and fracture risk (DOC 79 kb)
198_2011_1885_MOESM2_ESM.doc (60 kb)
Supplementary Table 2Characteristics of studies included in meta-analysis of the association between C667T polymorphism in the MTHFR gene and bone material density (DOC 60 kb)

Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2011

Authors and Affiliations

  1. 1.Department of OrthopedicsTaizhou Municipal HospitalTaizhouChina
  2. 2.Department of Clinical LaboratoryTaizhou Municipal HospitalTaizhouChina

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