COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Degenerative polyarthritis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE <i>Col2a1-CreER<sup>T2</sup>;Kdm6b<sup>f/f</sup></i> mice exhibited accelerated OA development at 8 and 12 weeks following surgical induction. 28314754 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 AlteredExpression disease BEFREE In grades II and III OA cartilage, the expression of miR-146a and COL2A1 was decreased, whereas the expression of matrix metalloproteinase 13 (MMP-13) was elevated in grade II OA cartilage. 19333945 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR, COL1A1, and COL2A1 in postmenopausal women. 9811048 1998
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE We demonstrated no evidence of linkage between the COL2A1/VDR locus and nonsyndromic DDH (LOD score < -2), suggesting, although variants in these genes could play a role in osteoarthritis in patients with DDH, they do not contribute to nonsyndromic DDH. 18288556 2008
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE To investigate the relationships between two COL2A1 single nucleotide polymorphisms (SNPs; T2088C and G4006A) and osteoarthritis (OA) in Han Chinese women. 21088911 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease GWASDB Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. 22763110 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE <b>Results:</b> The results of ELISA (IL-1β and tumor necrosis factor-α), the histological evaluation (Mankin and OARSI score), western blotting [COL2A1, matrix metalloproteinase (MMP)-3, MMP-13, IL-1β, and nuclear factor-kappaB (NF-κB) p65], and immunohistochemistry (COL2A1, MMP-3, and MMP-13) indicated that oral CAR attenuated the development of T2DM-induced OA and suppressed the inflammatory response. 29928231 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE We analyzed the COL2A1 gene in a 27-year-old woman and her 47-year-old mother presenting with severe premature osteoarthrosis and X-ray signs compatible with mild spondyloepiphyseal dysplasia. 7866404 1994
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 AlteredExpression disease BEFREE Compared with the normal group, the expression of ALK1, SMAD1, COL10A1 and MMP3 was higher in the OA groups, whereas the expression of COL2A1 was lower in the OA groups. 29753378 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 AlteredExpression disease BEFREE Interestingly, SAHA rescued the COL2A1 and ACAN expression in OA chondrocytes that was down-regulated by IL-1β. 27555113 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1? 8877930 1996
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE Despite studies suggesting associations of OA with both COL2A1 and VDR loci, our results suggest that mutations at the COL2A1/VDR locus do not play an important role as a cause of common OA in the population at large. 11824954 2002
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE The differences reached significance (p ≤ 0.05) for seven of these ten quantified genes, with CXCL3, CXCL6, and COL2A1 being elevated in the femoroacetabular impingement group compared with only the control group and IL-8, CCL3L1, ADAMTS-4, and ACAN being elevated compared with both the osteoarthritis and control groups. 23965695 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE Further, Wogonin exhibits potent chondroprotective potential by switching the signaling axis of matrix degradation from catabolic towards anabolic ends and inhibited the expression, production and activities of matrix degrading proteases including MMP-13, MMP-3, MMP-9, and ADAMTS-4 in OA chondrocytes, and blocked the release of s-GAG and COL2A1 in IL-1β-stimulated OA cartilage explants. 28237856 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1). 11708863 2001
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 AlteredExpression disease BEFREE There was a significant decrease in aggrecan and type II collagen (COL2A1) gene expressions by 73% (p = 0.029) and 65% (p = 0.029), respectively, in advanced OA area compared with the minimally OA area. 21728837 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE Inhibition of ADAMTSs markedly increased the production of COL2A1, ACAN and COMP in chondrocytes isolated from the early stage of OA. 26162802 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE The COL2A1 was not a susceptibility gene responsible for the OA phenotype in a large extended kindred with familial early-onset OA. 19223283 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE The cartilage collagen genes, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1 and COL11A2, were screened for sequence variations in 72 Finnish probands and one US family with primary early-onset hip and/or knee OA. 15922184 2005
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE Furthermore, expression of several key mRNAs associated with OA, including those for matrix metalloproteinase (MMP)-9, MMP-13, bone morphogenetic protein (BMP)-2, COL2A1 and ADAMTS5, was investigated by RT-PCR in OA and normal cartilage. 25430712 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 AlteredExpression disease BEFREE A significant correlation was, however, observed for H19, COL2A1, and miR-675 expression levels in OA tissue, and functional regulation of these candidate molecules was assessed under anabolic and catabolic conditions. 22527881 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 GeneticVariation disease BEFREE Adjacent genes, for COL2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee. 10902746 2000
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE We have previously demonstrated that Smurf2 is highly expressed in human osteoarthritis (OA) tissue, and overexpression of Smurf2 under the control of the type II collagen promoter (Col2a1) induces an OA-like phenotype in aged Col2a1-Smurf2 transgenic mice, suggesting that Smurf2 is located upstream of a signal cascade which initiates OA development. 19481076 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease CTD_human Abnormal craniofacial growth and early mandibular osteoarthritis in mice harbouring a mutant type II collagen transgene. 9061443 1997
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker disease BEFREE Our studies have identified two susceptibility loci of OA: COL2A1 and COL9A3. 12096843 2002