Please use this identifier to cite or link to this item:
https://doi.org/10.1038/srep31792
DC Field | Value | |
---|---|---|
dc.title | A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease | |
dc.contributor.author | Hao, J | |
dc.contributor.author | Wang, W | |
dc.contributor.author | Wen, Y | |
dc.contributor.author | Xiao, X | |
dc.contributor.author | He, A | |
dc.contributor.author | Guo, X | |
dc.contributor.author | Yang, T | |
dc.contributor.author | Liu, X | |
dc.contributor.author | Shen, H | |
dc.contributor.author | Chen, X | |
dc.contributor.author | Tian, Q | |
dc.contributor.author | Deng, H.-W | |
dc.contributor.author | Zhang, F | |
dc.date.accessioned | 2020-10-22T02:51:24Z | |
dc.date.available | 2020-10-22T02:51:24Z | |
dc.date.issued | 2016 | |
dc.identifier.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 | |
dc.identifier.issn | 20452322 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/178873 | |
dc.description.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. | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Unpaywall 20201031 | |
dc.subject | ADAM12 protein | |
dc.subject | ADAM12 protein, human | |
dc.subject | adult | |
dc.subject | aged | |
dc.subject | Asian continental ancestry group | |
dc.subject | China | |
dc.subject | ethnology | |
dc.subject | female | |
dc.subject | genetic predisposition | |
dc.subject | genetics | |
dc.subject | genome-wide association study | |
dc.subject | genotype | |
dc.subject | human | |
dc.subject | Kashin Beck disease | |
dc.subject | male | |
dc.subject | metabolism | |
dc.subject | middle aged | |
dc.subject | multivariate analysis | |
dc.subject | procedures | |
dc.subject | single nucleotide polymorphism | |
dc.subject | young adult | |
dc.subject | ADAM12 Protein | |
dc.subject | Adult | |
dc.subject | Aged | |
dc.subject | Asian Continental Ancestry Group | |
dc.subject | China | |
dc.subject | Female | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Genome-Wide Association Study | |
dc.subject | Genotype | |
dc.subject | Humans | |
dc.subject | Kashin-Beck Disease | |
dc.subject | Male | |
dc.subject | Middle Aged | |
dc.subject | Multivariate Analysis | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Young Adult | |
dc.type | Article | |
dc.contributor.department | CHEMISTRY | |
dc.contributor.department | MICROBIOLOGY AND IMMUNOLOGY | |
dc.description.doi | 10.1038/srep31792 | |
dc.description.sourcetitle | Scientific Reports | |
dc.description.volume | 6 | |
dc.description.page | 31792 | |
Appears in Collections: | Elements Staff Publications |
Show simple item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
10_1038_srep31792.pdf | 1.65 MB | Adobe PDF | OPEN | None | View/Download |
This item is licensed under a Creative Commons License