Assessing the Interaction Effects of Mitochondrial DNA Polymorphisms and Lifestyle on Heel Bone Mineral Density
Authors' conclusion
Our study suggests the candidate interaction between mtDNA and lifestyles on heel BMD, providing novel clues for exploring the pathogenesis of osteoporosis.
Study context
- Population
- White participants from the UK Biobank with heel bone mineral density (BMD) phenotype data65,949 female, 53,171 male
- Participants
- 119,120 participants
- Outcome
- Interaction effects of mtDNA and 5 lifestyle factors (smoking, drinking, physical activity, dietary diversity score, vitamin D) on heel BMD
Methodological detailsgene × environment interaction analysis, Mendelian randomization
- Gene × environment interaction analysis
- Mendelian randomization
Main finding
As reported in the abstract
Heel BMD: mtDNA loci and mtDNA × lifestyle interactions
- 4 mitochondrial DNA (mtDNA) loci with suggestive evidence for heel BMD, e.g. m.16356T>C (MT-DLOOP), total samples
- P = 1.50 × 10-3
- MT-ND2 × physical activity interaction, total samples
- P = 2.88 × 10-3
- MT-ND1 × smoking interaction, males
- P = 8.54 × 10-4
Further findings
Multivariable Mendelian randomization (MR): causal effect of physical activity on heel BMD considering mtDNA copy number (mtDNA-CN)
- Causal effect of physical activity on heel BMD when mtDNA-CN considered
- P = 1.13 × 10-3
Original publication
Assessing the Interaction Effects of Mitochondrial DNA Polymorphisms and Lifestyle on Heel Bone Mineral Density. J Clin Endocrinol Metab. Published 27 March 2024. doi:10.
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