Citation
Hao, Jingcan, et al. "A Bivariate Genome-wide Association Study Identifies ADAM12 as a Novel Susceptibility Gene for Kashin-Beck Disease." Scientific Reports, vol. 6, 2016, p. 31792.
Hao J, Wang W, Wen Y, et al. A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease. Sci Rep. 2016;6:31792.
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. https://doi.org/10.1038/srep31792
Hao J, et al. A Bivariate Genome-wide Association Study Identifies ADAM12 as a Novel Susceptibility Gene for Kashin-Beck Disease. Sci Rep. 2016 08 22;6:31792. PubMed PMID: 27545300.
TY - JOUR
T1 - A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease.
AU - Hao,Jingcan,
AU - Wang,Wenyu,
AU - Wen,Yan,
AU - Xiao,Xiao,
AU - He,Awen,
AU - Guo,Xiong,
AU - Yang,Tielin,
AU - Liu,Xiaogang,
AU - Shen,Hui,
AU - Chen,Xiangding,
AU - Tian,Qing,
AU - Deng,Hong-Wen,
AU - Zhang,Feng,
Y1 - 2016/08/22/
PY - 2016/02/29/received
PY - 2016/07/26/accepted
PY - 2016/8/23/entrez
PY - 2016/8/23/pubmed
PY - 2018/5/16/medline
SP - 31792
EP - 31792
JF - Scientific reports
JO - Sci Rep
VL - 6
N2 - 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.
SN - 2045-2322
UR - https://www.unboundmedicine.com/medline/citation/27545300/A_bivariate_genome_wide_association_study_identifies_ADAM12_as_a_novel_susceptibility_gene_for_Kashin_Beck_disease_
L2 - https://doi.org/10.1038/srep31792
DB - PRIME
DP - Unbound Medicine
ER -