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Developing a Risk-scoring Model for Ankylosing Spondylitis Based on a Combination of HLA-B27, Single-nucleotide Polymorphism, and Copy Number Variant Markers

Title
Developing a Risk-scoring Model for Ankylosing Spondylitis Based on a Combination of HLA-B27, Single-nucleotide Polymorphism, and Copy Number Variant Markers
Author
김태환
Keywords
ANKYLOSING SPONDYLITIS; COPY NUMBER VARIATION; SINGLE-NUCLEOTIDE POLYMORPHISM; HLA-B27; GENETIC RISK SCORING
Issue Date
2016-12
Publisher
J RHEUMATOL PUBL CO
Citation
JOURNAL OF RHEUMATOLOGY, v. 43, Issue 12, Page. 2136-2141
Abstract
Objective. To develop a genotype-based ankylosing spondylitis (AS) risk prediction model that is more sensitive and specific than HLA-B27 typing. Methods. 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). Results. 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-tion set. Th0.99) in the model construction set and 0.951 (95% CI 0.94-0.96) in the validae AS-GRS model showed higher specificity and accuracy than the HLA-B27-only 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(2) = 0.950) and the highest risk group showed a 494x higher risk of AS than the lowest risk group (95% CI 237.3-1029.1). Conclusion. 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.
URI
http://www.jrheum.org/content/43/12/2136https://repository.hanyang.ac.kr/handle/20.500.11754/101311
ISSN
0315-162X; 1499-2752
DOI
10.3899/jrheum.160347
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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