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Review
. 2019 Jun 4:10:337.
doi: 10.3389/fendo.2019.00337. eCollection 2019.

Recent Advances in the Genetics of Fractures in Osteoporosis

Affiliations
Review

Recent Advances in the Genetics of Fractures in Osteoporosis

Fjorda Koromani et al. Front Endocrinol (Lausanne). .

Abstract

Genetic susceptibility, together with old age, female sex, and low bone mineral density (BMD) are amongst the strongest determinants of fracture risk. Tmost recent large-scale genome-wide association study (GWAS) meta-analysis has yielded fifteen loci. This review focuses on the advances in the research of genetic determinants of fracture risk. We first discuss the genetic architecture of fracture risk, touching upon different methods and overall findings. We then discuss in a second paragraph the most recent advances in the field and focus on the genetics of fracture risk and also of other endophenotypes closely related to fracture risk such as bone mineral density (BMD). Application of state-of-the-art methodology such as Mendelian randzation in fracture GWAS are reviewed. The final part of this review touches upon potential future directions in genetic research of osteoporotic fractures.

Keywords: copy number variation; family; fracture risk; genetics; genome-wide association studies; osteoporosis; review; single nucleotide polymorphism.

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Figures

Figure 1
Figure 1
Number of loci discovered in fracture genome-wide association studies (Y-axis) plotted by fracture cases sample size (X-axis).

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