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Using a Polygenic Score to Predict the Risk of Developing Primary Osteoporosis

Bulat I. Yalaev, Anton Tyurin, Inga Prokopenko, Aleksandra Karunas, Э. К. Хуснутдинова, Р. И. Хусаинова

2022International Journal of Molecular Sciences17 citationsDOIOpen Access PDF

Abstract

Osteoporosis (OP) is a multifactorial bone disease belonging to the metabolic osteopathies group. Using the polygenic score (PGS) approach, we combined the effects of bone mineral density (BMD) DNA loci, affecting osteoporosis pathogenesis, based on GEFOS/GENOMOS consortium GWAS meta-analysis. We developed models to predict the risk of low fractures in women from the Volga-Ural region of Russia with efficacy of 74% (AUC = 0.740; OR (95% CI) = 2.9 (2.353-3.536)), as well as the formation of low BMD with efficacy of 79% (AUC = 0.790; OR (95% CI) = 3.94 (2.993-5.337)). In addition, we propose a model that predicts fracture risk and low BMD in a comorbid condition with 85% accuracy (AUC = 0.850; OR (95% CI) = 6.6 (4.411-10.608)) in postmenopausal women.

Topics & Concepts

Polygenic risk scoreOsteoporosisMedicineBone mineralInternal medicineBone densityGenome-wide association studyFRAXOncologyOsteoporotic fractureBioinformaticsBiologyGeneticsGeneGenotypeSingle-nucleotide polymorphismBone health and osteoporosis researchBone Metabolism and DiseasesGenetic factors in colorectal cancer
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