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https://doi.org/10.1038/srep31792
Title: | A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease | Authors: | Hao, J Wang, W Wen, Y Xiao, X He, A Guo, X Yang, T Liu, X Shen, H Chen, X Tian, Q Deng, H.-W Zhang, F |
Keywords: | ADAM12 protein ADAM12 protein, human adult aged Asian continental ancestry group China ethnology female genetic predisposition genetics genome-wide association study genotype human Kashin Beck disease male metabolism middle aged multivariate analysis procedures single nucleotide polymorphism young adult ADAM12 Protein Adult Aged Asian Continental Ancestry Group China Female Genetic Predisposition to Disease Genome-Wide Association Study Genotype Humans Kashin-Beck Disease Male Middle Aged Multivariate Analysis Polymorphism, Single Nucleotide Young Adult |
Issue Date: | 2016 | Citation: | Hao, J, Wang, W, Wen, Y, Xiao, X, He, A, Guo, X, Yang, T, Liu, X, Shen, H, Chen, X, Tian, Q, Deng, H.-W, Zhang, F (2016). A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease. Scientific Reports 6 : 31792. ScholarBank@NUS Repository. https://doi.org/10.1038/srep31792 | Rights: | Attribution 4.0 International | Abstract: | Kashin-Beck disease (KBD) is a chronic osteoarthropathy, which manifests as joint deformities and growth retardation. Only a few genetic studies of growth retardation associated with the KBD have been carried out by now. In this study, we conducted a two-stage bivariate genome-wide association study (BGWAS) of the KBD using joint deformities and body height as study phenotypes, totally involving 2,417 study subjects. Articular cartilage specimens from 8 subjects were collected for immunohistochemistry. In the BGWAS, ADAM12 gene achieved the most significant association (rs1278300 p-value = 9.25 × 10-9) with the KBD. Replication study observed significant association signal at rs1278300 (p-value = 0.007) and rs1710287 (p-value = 0.002) of ADAM12 after Bonferroni correction. Immunohistochemistry revealed significantly decreased expression level of ADAM12 protein in the KBD articular cartilage (average positive chondrocyte rate = 47.59 ± 7.79%) compared to healthy articular cartilage (average positive chondrocyte rate = 64.73 ± 5.05%). Our results suggest that ADAM12 gene is a novel susceptibility gene underlying both joint destruction and growth retardation of the KBD. © The Author(s) 2016. | Source Title: | Scientific Reports | URI: | https://scholarbank.nus.edu.sg/handle/10635/178873 | ISSN: | 20452322 | DOI: | 10.1038/srep31792 | Rights: | Attribution 4.0 International |
Appears in Collections: | Elements Staff Publications |
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