Developing a Risk-scoring Model for Ankylosing Spondylitis Based on a Combination of HLA-B27, Single-nucleotide Polymorphism, and Copy Number Variant Markers
DC Field | Value | Language |
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dc.contributor.author | Jung, Seung-Hyun | - |
dc.contributor.author | Cho, Sung-Min | - |
dc.contributor.author | Yim, Seon-Hee | - |
dc.contributor.author | Kim, So-Hee | - |
dc.contributor.author | Park, Hyeon-Chun | - |
dc.contributor.author | Cho, Mi-La | - |
dc.contributor.author | Shim, Seung-Cheol | - |
dc.contributor.author | Kim, Tae-Hwan | - |
dc.contributor.author | Park, Sung-Hwan | - |
dc.contributor.author | Chung, Yeun-Jun | - |
dc.date.accessioned | 2021-07-30T05:26:11Z | - |
dc.date.available | 2021-07-30T05:26:11Z | - |
dc.date.created | 2021-05-12 | - |
dc.date.issued | 2016-12 | - |
dc.identifier.issn | 0315-162X | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/4872 | - |
dc.description.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 0.96–0.99) in the model construction set and 0.951 (95% CI 0.94–0.96) in the validation set. The 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 (r² = 0.950) and the highest risk group showed a 494× 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. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | J RHEUMATOL PUBL CO | - |
dc.title | Developing a Risk-scoring Model for Ankylosing Spondylitis Based on a Combination of HLA-B27, Single-nucleotide Polymorphism, and Copy Number Variant Markers | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kim, Tae-Hwan | - |
dc.identifier.doi | 10.3899/jrheum.160347 | - |
dc.identifier.scopusid | 2-s2.0-85002973706 | - |
dc.identifier.wosid | 000390237400009 | - |
dc.identifier.bibliographicCitation | JOURNAL OF RHEUMATOLOGY, v.43, no.12, pp.2136 - 2141 | - |
dc.relation.isPartOf | JOURNAL OF RHEUMATOLOGY | - |
dc.citation.title | JOURNAL OF RHEUMATOLOGY | - |
dc.citation.volume | 43 | - |
dc.citation.number | 12 | - |
dc.citation.startPage | 2136 | - |
dc.citation.endPage | 2141 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Rheumatology | - |
dc.relation.journalWebOfScienceCategory | Rheumatology | - |
dc.subject.keywordPlus | AXIAL SPONDYLOARTHRITIS | - |
dc.subject.keywordPlus | DISEASE | - |
dc.subject.keywordPlus | DIAGNOSIS | - |
dc.subject.keywordPlus | ERAP1 | - |
dc.subject.keywordPlus | ASSOCIATIONS | - |
dc.subject.keywordPlus | PREDICTION | - |
dc.subject.keywordPlus | BLOCKERS | - |
dc.subject.keywordPlus | KOREANS | - |
dc.subject.keywordPlus | GENOME | - |
dc.subject.keywordPlus | LOCI | - |
dc.subject.keywordAuthor | ANKYLOSING SPONDYLITIS | - |
dc.subject.keywordAuthor | COPY NUMBER VARIATION | - |
dc.subject.keywordAuthor | SINGLE-NUCLEOTIDE POLYMORPHISM | - |
dc.subject.keywordAuthor | HLA-B27 | - |
dc.subject.keywordAuthor | GENETIC RISK SCORING | - |
dc.identifier.url | https://www.jrheum.org/content/43/12/2136 | - |
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