Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use
نویسندگان
چکیده
Adolescent idiopathic scoliosis (AIS) is a common disease causing three-dimensional spinal deformity in as many 3% of adolescents. Development method that can accurately predict the onset and progression AIS an immediate need for clinical practice. Because heritability estimated high 87.5% twin studies, prediction its based on genetic data promising option. We show usefulness polygenic risk score (PRS) AIS. used genomewide association study (GWAS) comprising 79,211 subjects three cohorts constructed PRS statistics discovery set including 31,999 female subjects. After calibration using validation set, we applied to test set. By integrating functional annotations showing enrichment selection variants, demonstrated with susceptibility (p = 3.5 × 10?40 area under receiver-operating characteristic [AUROC] 0.674, sensitivity 0.644, specificity 0.622). The decile highest showed odds ratio 3.36 1.4 10?10) develop compared fifth decile. addition predictive model only single parameter (body mass index) improved ability development (AUROC 0.722, net reclassification improvement [NRI] 0.505 ± 0.054, p 1.6 10?8), potentiating use model. Furthermore, found Cobb angle (CA), severity measurement AIS, be trait significant correlation (rg 0.6, 3.0 10?4). CA. These results indicate shared architecture between potential settings predictor promote early intervention avoid invasive surgery. © 2021 American Society Bone Mineral Research (ASBMR).
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2021
ISSN: ['0884-0431', '1523-4681']
DOI: https://doi.org/10.1002/jbmr.4324