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Updated: Jul 18, 2026
07:56
Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
MTHFR polymorphism and bone mineral density: meta-analysis of published studies
J A Riancho1, C Valero, M T Zarrabeitia
1Department of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Av. Valdecilla s/n, Santander, 39008, Spain. rianchoj@unican.es
Calcified Tissue International
|November 23, 2006
Summary
The MTHFR C677T gene variant is linked to reduced bone mineral density (BMD), particularly in women. This meta-analysis confirms a significant association between the TT genotype and lower spine and hip BMD.
Area of Science:
- Genetics and Bone Health
- Population Genetics
- Metabolic Bone Disease
Background:
- The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism (rs1801133) has been inconsistently associated with bone status.
- Previous studies show mixed results regarding the MTHFR C677T polymorphism's impact on bone mineral density (BMD).
Purpose of the Study:
- To conduct a meta-analysis to clarify the association between the MTHFR C677T polymorphism and BMD.
- To investigate the relationship between MTHFR C677T genotypes and BMD at the spine, femoral neck, and total hip.
Main Methods:
- A meta-analysis was performed on eight studies examining spine BMD, six on femoral neck BMD, and four on total hip BMD.
- Combined results were analyzed using weighted mean differences (WMD) and confidence intervals (CI).
- Sex-stratified analyses were conducted, focusing on women due to limited male data.
Main Results:
- Individuals with the TT genotype showed significantly reduced spine BMD (WMD 18.0 mg/cm2, P=0.001) and total hip BMD (WMD 19.7 mg/cm2, P=0.007) compared to TC/CC genotypes.
- In women, the TT genotype was significantly associated with lower spine BMD (WMD 22.1 mg/cm2, P=0.001) and femoral neck BMD (WMD 15.5 mg/cm2, P=0.007).
- Femoral neck BMD showed a trend towards lower values in TT individuals but lacked statistical significance in the overall analysis (WMD 6.4 mg/cm2, P=0.36).
Conclusions:
- The MTHFR C677T polymorphism is associated with small but significant differences in BMD, especially in women.
- The TT genotype may contribute to reduced bone density at critical skeletal sites.
- Further research is needed for sex-stratified analysis of total hip BMD and male-specific effects.
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