SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 AlteredExpression disease BEFREE Smad3 expression level was lower in the OA group than that in the normal group and was positively associated with the PART-1 expression level. 31571401 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 Biomarker disease BEFREE Upregulation of SOX9 inhibited IL-1β-induced inflammatory response via increasing the level Smad3 in human chondrocytes and exhibited therapeutic effect on surgically induced OA mice in vivo. 31496660 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 AlteredExpression disease BEFREE These results suggest that miR-302b suppression may function as a protector in suppressing the inflammation during the development and progression of OA by up-regulating the target Smad3 expression. 29414803 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 Biomarker disease BEFREE The unfolded protein response and the protein characteristic of OA pathology, such as transforming growth factor β, SMAD family member 3, and hypoxia-inducible factor 2α of OA chondrocytes, were also detected by western blotting. 28599103 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE The association between rs12901499 polymorphism in SMAD3 gene and risk of osteoarthritis: a meta-analysis. 29805262 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 Biomarker disease BEFREE Results suggested the involvement of SMAD family member 3 (<i>SMAD3</i>) and Wnt family member 5A (<i>WNT5A</i>) in the growth of blood vessels and cell aggregation, representing features of cartilage damage in OA. 30544699 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE In conclusion, SMAD3 rs12901499 polymorphism may be involved in the development of knee OA. 29315792 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE And the pooled results revealed significant association between SMAD3 rs12901499 polymorphism and both knee and hip OA (knee OA: OR 1.18, 95% CI 1.04-1.34; hip OA: OR 1.31, 95% CI 1.18-1.44). 30208919 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE Our findings provide the first systematic evaluation of pleiotropy between OA and BMD, highlight genes with biological relevance to both traits, and establish a robust new OA genetic risk locus at SMAD3. 28934396 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. 28185953 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 Biomarker disease BEFREE Increased expression levels of TGFβ1, Smad2, Smad3 and ALK5in the OA model group were higher than those in the TβRI inhibitors group. 28939526 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE A SMAD3 mutation has been linked to aneurysm-osteoarthritis syndrome and has been identified as a cause of familial thoracic aortic aneurysm and dissection. 27986426 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE We found significant association of spine OA with SNPs and haplotypes along the 7q22 chromosomal region and the SMAD3 gene. 28662992 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 AlteredExpression disease BEFREE We found that the level of miR-216b was significantly higher and Smad3 expression was obviously lower in OA cartilage and IL-1β-induced chondrocytes than in normal tissues and cells. 28356485 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 AlteredExpression disease BEFREE Using real-time PCR, the expression of miR-16-5p and SMAD3 in cartilage specimens was determined in 10 patients with knee OA and in 10 traumatic amputees (control). 26350536 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE The TT genotype and T allele of SMAD3 rs12102171 polymorphism were more frequent in case than control groups (P=0.04 in both of two polymorphisms), which increased the risk of OA (OR=3.39, 95% CI=1.03-11.11 and OR=1.64, 95% CI=1.03-2.59). 26261637 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS. 26221609 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 Biomarker disease BEFREE Our goal was to establish whether single nucleotide polymorphisms (SNPs) of TGF-β1, TGF-βRI, Smad3 and tissue inhibitor of metalloproteinases 3 (TIMP3), and their interactions, are associated with knee OA. 26068512 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 AlteredExpression disease BEFREE The expression of TGFB1, SMAD3, and MMP13 were on average 70%, 46%, and 355% higher, respectively, whereas the expression of BMP2 was 88% lower, in OA-affected cartilage than that of controls (all p < 0.03), but no difference was observed between hip and knee OA (all p > 0.4). 26395178 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE SMAD3 gene mutations are associated with aortic dilatation and osteoarthritis, but also autoimmunity and peripheral neuropathy which mimics type II Charcot-Marie-Tooth. 24804794 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE This G allele was underrepresented in osteoarthritis cases vs controls (P = 0.027, odds ratio = 0.921). rs8031440 is in perfect linkage disequilibrium with five other SMAD3 3'UTR SNPs and our luciferase analysis identified rs3743342 and rs12595334 as being functional. 24583347 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE Our data indicated that genetic variation in the SMAD3 gene is involved in pathogenesis of both knee OA and hand OA in Northeast Chinese population, which is consistent with in European populations. 23292212 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal-dominant syndrome characterized by arterial aneurysms, tortuosity, and aortic dissections in combination with osteoarthritis. 22975338 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 GeneticVariation disease BEFREE Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). 23554019 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.400 Biomarker disease BEFREE This is the first study to provide evidence of a regulatory mechanism of miR-140 independent of WWP2, and new and differential roles for NFAT3 and SMAD3 in the OA process in the regulation of miR-140 transcription. 24257415 2013