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J Clin Med. 2020 Feb 12;9(2). pii: E499. doi: 10.3390/jcm9020499.

Evaluating the Performance of the WHO International Reference Standard for Osteoporosis Diagnosis in Postmenopausal Women of Varied Polygenic Score and Race.

Wu Q1,2, Xiao X1,2, Xu Y1,2.

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Nevada Institute of Personalized Medicine, University of Nevada, Las Vegas, NV 89154, USA.
Department of Environmental and Occupational Health, School of Public Health, University of Nevada Las Vegas, NV 89154, USA.



Whether the bone mineral density (BMD) T-score performs differently in osteoporosis classification in women of different genetic profiling and race background remains unclear.


The genomic data in the Women's Health Initiative study was analyzed (n = 2417). The polygenic score (PGS) was calculated from 63 BMD-associated single nucleotide polymorphisms (SNPs) for each participant. The World Health Organization's (WHO) definition of osteoporosis (BMD T-score ≤-2.5) was used to estimate the cumulative incidence of fracture.


T-score classification significantly underestimated the risk of major osteoporotic fracture (MOF) in the WHI study. An enormous underestimation was observed in African American women (POR: 0.52, 95% CI: 0.30-0.83) and in women with low PGS (predicted/observed ratio [POR]: 0.43, 95% CI: 0.28-0.64). Compared to Caucasian women, African American, African Indian, and Hispanic women respectively had a 59%, 41%, and 55% lower hazard of MOF after the T-score was adjusted for. The results were similar when used for any fractures.


Our study suggested the BMD T-score performance varies significantly by race in postmenopausal women.


bone mineral density (BMD); polygenic score (PGS); single nucleotide polymorphism (SNP)

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