Osteoporosis, bone & mineral

Genetic Prediction of Lifetime Risk of Fracture

J Clin Endocrinol MetabPublished Population-based prospective cohort study

Authors' conclusion

A genetic profiling of BMD-associated genetic variants is associated with the residual lifetime risk of fracture, suggesting the potential for incorporating the polygenic risk score in personalized fracture risk assessment.

Study context

Population
Community-dwelling individuals aged 60+ years; femoral neck bone mineral density (BMD) by DXA; Polygenic risk score (PRS) from BMD-associated SNP coefficients
Participants
3,515 individuals
Exposure
PRS > 4.24 vs population average risk
Outcome
Residual lifetime risk of fracture (RLRF), mortality-adjusted
Methodological detailsup to 20 years follow-up
  • Up to 20 years follow-up

Main finding

As reported in the abstract

Mortality-adjusted RLRF
PRS > 4.24 (median) vs population average risk, women
1.2-fold
PRS > 4.24 (median) vs population average risk, men
1.1-fold

Observational data: associations, not effects.

Further findings

OutcomeWomenMen
Hip fracture RLRF10% (95% CI 8%–12%)∼5% (CI 3%–7%)
Hip fracture residual lifetime risk of fracture (RLRF) — Risk significantly increased with high PRS, women
1.5-fold
Hip fracture RLRF — Risk significantly increased with high PRS, men
1.3-fold

Original publication

Genetic Prediction of Lifetime Risk of Fracture. J Clin Endocrinol Metab. Published 11 May 2023. doi:10.1210/clinem/dgad254

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