Genetic Screening May Predict Osteoporosis, Fracture Risk

DNA sample
DNA sample
Genetic testing may identify individuals with an increased risk for osteoporosis and bone fracture.

A genetic screening could potentially identify individuals with an increased risk for low bone mineral density (BMD), osteoporosis, or fracture, according to the results of a genome-wide association study published in PLoS One. The study identified 899 loci associated with low BMD, 613 of which were new.

The study sought to explore genetic predictors that could assist in the identification of individuals at risk for the development of osteoporosis or fractures using data from the UK Biobank. Data from quantitative ultrasound scans of the calcaneus, which measures estimated heel BMD (eBMD), were used in this study. This method, which is mobile, inexpensive, easy to perform, and radiation-free, can predict fractures to the same extent as dual-energy X-ray absorptiometry.

A genetic association analysis for eBMD was conducted on the full release of data from the UK Biobank.

The study identified a total of 1362 independent single nucleotide polymorphisms (SNPs) that clustered into 899 loci, of which 286 were previously identified and 613 were new. These data were then used to train a genetic algorithm, which utilized 22,886 SNPs as predictors and demonstrated a correlation with eBMD of 0.415. When this genetic algorithm was combined with weight, height, gender, and age, it resulted in a correlation with eBMD of 0.496. 

Overall, 142,417 DNA variants from the autosomes and X chromosomes were linked to eBMD with genome-wide significance (P < 6.6 x 10-9). The 4 loci with the strongest associations with eBMD were loci 385, 324, 336, and 89. Moreover, locus 385 on chromosome 7 contained 20 independent SNPs, all of which have genome-wide significant associations with eBMD.

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Study participants with low scores (2.2% of the total) exhibited a change in BMD of −1.16 T-score units, a 17.4-fold increased risk for osteoporosis and an 18.7-fold elevated risk for fractures.

The investigators concluded that based on the findings of this study, genetic predictors could be used to help recognize individuals at an increased risk for osteoporosis or fractures.

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Kim SK. Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture. PLoS One. 2018;13(7):e020078.

This article originally appeared on Rheumatology Advisor