THBS4, thrombospondin 4, 7060

N. diseases: 59; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.060 GeneticVariation disease BEFREE Homozygosity for the THBS-2 variant allele and the THBS-4 variant (387P) allele was significantly associated with a reduced risk of premature MI compared with wild-type individuals (OR=0.44, 0.24 to 0.84 and OR=0.43, 0.22 to 0.85, respectively). 12482844 2002
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.030 GeneticVariation disease BEFREE For the THBS-4 A387P polymorphism, additional studies are required to elucidate its role in premature CAD. 12482844 2002
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.010 GeneticVariation phenotype BEFREE Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G substitution in 3'-untranslated region), and THBS-4 (A387P) genes were proposed to modulate the risk of premature coronary artery disease (CAD) or myocardial infarction (MI). 12482844 2002
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 GeneticVariation disease BEFREE In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombospondin-4 (TSP-4) gene, resulting in a proline-for-alanine substitution at position 387, was associated with a significantly increased risk for premature atherosclerosis. 12952849 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 GeneticVariation disease BEFREE In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombospondin-4 (TSP-4) gene, resulting in a proline-for-alanine substitution at position 387, was associated with a significantly increased risk for premature atherosclerosis. 12952849 2003
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.060 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.030 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.060 GeneticVariation disease BEFREE Our findings suggest that the A387P variant of the THBS4 gene may be an important determinant in the development of MI at any age. 15131549 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 Biomarker group BEFREE Furthermore, several variables appeared to modify the effect of THBS4 on MI, including waist-to-hip ratio, diabetes mellitus, and hypertension. 15131549 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 GeneticVariation group BEFREE Hypermethylation of the putative tumor suppressor genes BCL7a (in 48% of CTCL samples), PTPRG (27%), and thrombospondin 4 (52%) was confirmed and demonstrated to be associated with transcriptional downregulation. 15897551 2005
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		0.010 PosttranslationalModification disease LHGDN Hypermethylation of the putative tumor suppressor genes BCL7a (in 48% of CTCL samples), PTPRG (27%), and thrombospondin 4 (52%) was confirmed and demonstrated to be associated with transcriptional downregulation. 15897551 2005
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.060 GeneticVariation disease LHGDN Based on a study examining 500 myocardial infarction (MI) patients and 500 controls from the genetically isolated Newfoundland population, we previously reported that thrombospondin-4 (THBS-4) 1186G>C variant associates with MI in women. 16923428 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.060 GeneticVariation disease BEFREE Based on a study examining 500 myocardial infarction (MI) patients and 500 controls from the genetically isolated Newfoundland population, we previously reported that thrombospondin-4 (THBS-4) 1186G>C variant associates with MI in women. 16923428 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE THBS4 may act as a tumour suppressor gene, demonstrated by its suppression of tumour colony formation in vitro. 20846368 2010
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 Biomarker group BEFREE THBS4 methylation is detectable in normal colonic mucosa and its level may be a biomarker for the occurrence of adenomas and carcinoma. 20846368 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE THBS4 shows increased methylation in colorectal cancer, but this is not strongly associated with altered gene expression, either because methylation has not always reached a critical level or because other factors influence THBS4 expression. 20846368 2010
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE The aim of this study was to evaluate the potential role of deregulation of THBS4 expression in colorectal carcinogenesis. 20846368 2010
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 AlteredExpression disease BEFREE THBS4 shows increased methylation in colorectal cancer, but this is not strongly associated with altered gene expression, either because methylation has not always reached a critical level or because other factors influence THBS4 expression. 20846368 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 Biomarker group BEFREE This study is the first to identify THBS4 as a powerful marker for diffuse-type gastric adenocarcinomas and to provide an initial characterization of its expression in the course of this disease. 21701537 2011
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 GeneticVariation group BEFREE Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was investigated in terms of CVD risk using multivariable modelling with a well-characterised functional genetic polymorphism of THBS4 (rs1866389" genes_norm="7060">A387P, rs1866389) along with previously demonstrated risk-related functional genetic polymorphisms of CYBA (C242T, rs4673) and CETP (TaqIB, rs708272), and a set of blood markers. 22011848 2011
CUI: C0857175
Disease: Postinfarction
Postinfarction 		0.010 GeneticVariation disease BEFREE Thrombospondin-4 polymorphism (A387P) predicts cardiovascular risk in postinfarction patients with high HDL cholesterol and C-reactive protein levels. 22011848 2011
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations 		0.010 Biomarker phenotype BEFREE In conclusion, TSP-4, a matricellular protein involved in regulating vascular inflammation, plays a role in establishing recurrent coronary risk in post-infarction patients with high levels of HDL-C and CRP. 22011848 2011
CUI: C0233532
Disease: Maladaptive behavior associated with physical illness
Maladaptive behavior associated with physical illness 		0.010 Biomarker phenotype BEFREE Thbs4 cardiac-specific transgenic mice were protected from myocardial injury, whereas Thbs4(-/-) mice were sensitized to cardiac maladaptation. 22682248 2012