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- Title
Integrating both common and rare variants to predict bone mineral density and fracture.
- Authors
Gai, Sirui; Qian, Yu; Zhang, Zhenlin; Zheng, Hou-Feng
- Abstract
A recent study published in the Journal of Bone & Mineral Research examined the integration of common and rare genetic variants to predict bone mineral density (BMD) and fracture risk. The study utilized whole-exome sequencing data from the UK Biobank and identified influential rare variants associated with BMD-related traits. The researchers developed a generalized genetic risk score (ggSOS) that incorporated both common and rare variants as predictors. However, the study found that adding rare variants did not substantially improve the predictive performance of ggSOS compared to a genetic risk score based on common variants alone. The study suggests that the use of genetic risk scores in fracture prediction could reduce the need for BMD-based screening.
- Subjects
BONE density; GENOME-wide association studies; GENETIC risk score; DUAL-energy X-ray absorptiometry; NUCLEOTIDE sequencing; NONSENSE mutation; HERITABILITY
- Publication
Journal of Bone & Mineral Research, 2024, Vol 39, Issue 3, p193
- ISSN
0884-0431
- Publication type
Article
- DOI
10.1093/jbmr/zjad022