{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T23:13:43Z","timestamp":1718925223851},"reference-count":25,"publisher":"The Journal of Rheumatology","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:title>Objective.<\/jats:title><jats:p>To develop a genotype-based ankylosing spondylitis (AS) risk prediction model that is more sensitive and specific than HLA-B27 typing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p>To develop the AS genetic risk scoring (AS-GRS) model, 648 individuals (285 cases and 363 controls) were examined for 5 copy number variants (CNV), 7 single-nucleotide polymorphisms (SNP), and an HLA-B27 marker by TaqMan assays. The AS-GRS model was developed using logistic regression and validated with a larger independent set (576 cases and 680 controls).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p>Through logistic regression, we built the AS-GRS model consisting of 5 genetic components: HLA-B27, 3 CNV (1q32.2, 13q13.1, and 16p13.3), and 1 SNP (rs10865331). All significant associations of genetic factors in the model were replicated in the independent validation set. The discriminative ability of the AS-GRS model measured by the area under the curve was excellent: 0.976 (95% CI 0.96\u20130.99) in the model construction set and 0.951 (95% CI 0.94\u20130.96) in the validation set. The AS-GRS model showed higher specificity and accuracy than the HLA-B27\u2013only model when the sensitivity was set to over 94%. When we categorized the individuals into quartiles based on the AS-GRS scores, OR of the 4 groups (low, intermediate-1, intermediate-2, and high risk) showed an increasing trend with the AS-GRS scores (r<jats:sup>2<\/jats:sup>= 0.950) and the highest risk group showed a 494\u00d7 higher risk of AS than the lowest risk group (95% CI 237.3\u20131029.1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion.<\/jats:title><jats:p>Our AS-GRS could be used to identify individuals at high risk for AS before major symptoms appear, which may improve the prognosis for them through early treatment.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.160347","type":"journal-article","created":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T12:15:22Z","timestamp":1480594522000},"page":"2136-2141","source":"Crossref","is-referenced-by-count":6,"title":["Developing a Risk-scoring Model for Ankylosing Spondylitis Based on a Combination of HLA-B27, Single-nucleotide Polymorphism, and Copy Number Variant 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