title: Gene expression signature in endemic osteoarthritis by microarray analysis.
abstract: Kashin-Beck Disease (KBD) is an endemic osteochondropathy with an unknown pathogenesis. Diagnosis of KBD is effective only in advanced cases, which eliminates the possibility of early treatment and leads to an inevitable exacerbation of symptoms. Therefore, we aim to identify an accurate blood-based gene signature for the detection of KBD. Previously published gene expression profile data on cartilage and peripheral blood mononuclear cells (PBMCs) from adults with KBD were compared to select potential target genes. Microarray analysis was conducted to evaluate the expression of the target genes in a cohort of 100 KBD patients and 100 healthy controls. A gene expression signature was identified using a training set, which was subsequently validated using an independent test set with a minimum redundancy maximum relevance (mRMR) algorithm and support vector machine (SVM) algorithm. Fifty unique genes were differentially expressed between KBD patients and healthy controls. A 20-gene signature was identified that distinguished between KBD patients and controls with 90% accuracy, 85% sensitivity, and 95% specificity. This study identified a 20-gene signature that accurately distinguishes between patients with KBD and controls using peripheral blood samples. These results promote the further development of blood-based genetic biomarkers for detection of KBD.
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. wx231115210@stu.xjtu.edu.cn.
authors.forename: Xi
authors.initials: X
authors.lastname: Wang
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. yujie.ning@sydney.edu.au.
authors.forename: Yujie
authors.initials: Y
authors.lastname: Ning
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. fzhxjtu@mail.xjtu.edu.cn.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. y844481760@stu.xjtu.edu.cn.
authors.forename: Fangfang
authors.initials: F
authors.lastname: Yu
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. tanwh@mail.xjtu.edu.cn.
authors.forename: Wuhong
authors.initials: W
authors.lastname: Tan
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. leiyanx@163.com.
authors.forename: Yanxia
authors.initials: Y
authors.lastname: Lei
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. xj.cy.69@stu.xjtu.edu.cn.
authors.forename: Cuiyan
authors.initials: C
authors.lastname: Wu
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. zhengjingjing.1984@163.com.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Zheng
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. alison@stu.xjtu.edu.cn.
authors.forename: Sen
authors.initials: S
authors.lastname: Wang
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems, Northwest University, Xi'an 710069, China. yuhanjie0205@163.com.
authors.forename: Hanjie
authors.initials: H
authors.lastname: Yu
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems, Northwest University, Xi'an 710069, China. zhengli@nwu.edu.cn.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Integrative Medical Biology, University of Umea, 901 87 Umeå, Sweden. mikko.lammi@umu.se.
authors.forename: Mikko J
authors.initials: MJ
authors.lastname: Lammi
authors.affiliation: School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, No. 76 Yanta West Road, Xi'an 710061, China. guox@mail.xjtu.edu.cn.
authors.forename: Xiong
authors.initials: X
authors.lastname: Guo
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D057767:Kashin-Beck Disease / Q000235:genetics* / Q000473:pathology; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods; D059467:Transcriptome
keywords: Kashin-Beck disease; gene expression signature; microarray; peripheral blood mononuclear cells