SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
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 		0.400 GeneticVariation disease BEFREE Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
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 We undertook this study to investigate the role of genetic variation in SMAD3 in the risk of large-joint OA in humans. 20506137 2010
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.400 GeneticVariation disease BEFREE This is the first report showing that the Smad3 gene mutations could be associated with the pathogenesis of human OA. 12939660 2003
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 LHGDN This is the first report showing that the Smad3 gene mutations could be associated with the pathogenesis of human OA. 12939660 2003
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 A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. 28185953 2017
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 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 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 AOS, caused by pathogenic SMAD3 variants, is a recently described autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. 22633655 2012
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 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 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 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 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 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 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 Biomarker disease CTD_human Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.400 Biomarker disease BEFREE Smad3 gene knock-out (Smad3) mice displays phenotypes similar to human osteoarthritis. 19478656 2009
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 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012