Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 282991
Gene Symbol: BLOC1S2
BLOC1S2
0.040 GeneticVariation group BEFREE This study demonstrates that the CASZ1 gene associated C-allele of rs11121615 has a significant, reproducible, association with CVD (CEAP C ≥ 2 meta-odds ratio 1.31, 95% CI 1.27-1.34, P = 1 × 10<sup>-98</sup>, PHet = 0.25), but not with non-varicose vein (CEAP C1, telangiectasia or reticular veins) forms of venous disease. 31570750 2019
Entrez Id: 282991
Gene Symbol: BLOC1S2
BLOC1S2
0.040 GeneticVariation group BEFREE There were also nonsignificant trends toward a higher incidence of EHIT in patients with a history of VTE (20% vs 10%; P = .06), worsening venous disease (Clinical, Etiology, Anatomy, Pathophysiology [CEAP] class >2, 37% vs 26%; P = .13), and history of tobacco use (43% vs 31%; P = .18). 28214487 2017
Entrez Id: 282991
Gene Symbol: BLOC1S2
BLOC1S2
0.040 Biomarker group BEFREE The severity of varicose veins was divided into 2 groups according to CEAP (clinical, etiological, anatomical, and pathophysiological) classification: mild type of venous disease (C0-C2) and severe type of venous disease (C3-C6). 29145758 2017
Entrez Id: 282991
Gene Symbol: BLOC1S2
BLOC1S2
0.040 Biomarker group BEFREE This study compared the nature and prevalence of thrombophilia in patients with varicose veins (VV, CEAP clinical [C] grade C(2) to C(3)) and patients with CVU (C(5) to C(6)) with an age- and sex-matched population without clinical or duplex ultrasound evidence of venous disease. 19307088 2009
Entrez Id: 2153
Gene Symbol: F5
F5
0.020 Biomarker group BEFREE Accounting for age, obesity and family history of leg ulcer, odds ratios (ORs) of venous disease for elevated factor VIII, von Willebrand factor (VWF), D-dimer and for factor V Leiden were 1.4 (95% CI 0.9-2.1), 1.5 (CI 1.0-2.3), 1.7 (CI 1.1-2.8) and 1.1 (CI 0.5-2.4), respectively. 20492466 2010
Entrez Id: 2153
Gene Symbol: F5
F5
0.020 GeneticVariation group BEFREE The frequency of the factor V Leiden gene mutation was significantly increased in patients with femoro-popliteal occlusive disease (n = 126), to 21.6% (t = 16.94; P< .001), and venous disease (n = 50), to 36.0% (t = 20.93; P< .001). 9786256 1998
Entrez Id: 54897
Gene Symbol: CASZ1
CASZ1
0.010 GeneticVariation group BEFREE This study demonstrates that the CASZ1 gene associated C-allele of rs11121615 has a significant, reproducible, association with CVD (CEAP C ≥ 2 meta-odds ratio 1.31, 95% CI 1.27-1.34, P = 1 × 10<sup>-98</sup>, PHet = 0.25), but not with non-varicose vein (CEAP C1, telangiectasia or reticular veins) forms of venous disease. 31570750 2019
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3
0.010 Biomarker group BEFREE Unravelling the Role of MAPKs (ERK1/2) in Venous Reflux in Patients with Chronic Venous Disorder. 31203288 2018
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.010 Biomarker group BEFREE Connexin 43 is a potential biomarker for venous disease. 29143961 2018
Entrez Id: 131096
Gene Symbol: KCNH8
KCNH8
0.010 Biomarker group BEFREE Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci. 28374850 2017
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
0.010 Biomarker group BEFREE Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci. 28374850 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 Biomarker group BEFREE Variability of MMP/TIMP and TGF-β1 Receptors throughout the Clinical Progression of Chronic Venous Disease. 29267209 2017
Entrez Id: 9575
Gene Symbol: CLOCK
CLOCK
0.010 AlteredExpression group BEFREE Therefore, upregulation of the CLOCK gene in the vessel walls of veins may be involved in the pathogenesis of VVs and the progression of venous disease. 26299356 2015
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.010 Biomarker group BEFREE Accounting for age, obesity and family history of leg ulcer, odds ratios (ORs) of venous disease for elevated factor VIII, von Willebrand factor (VWF), D-dimer and for factor V Leiden were 1.4 (95% CI 0.9-2.1), 1.5 (CI 1.0-2.3), 1.7 (CI 1.1-2.8) and 1.1 (CI 0.5-2.4), respectively. 20492466 2010
Entrez Id: 2147
Gene Symbol: F2
F2
0.010 Biomarker group BEFREE Prothrombin 20210A was not associated with venous disease. 20492466 2010
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
0.010 AlteredExpression group BEFREE Skin biopsies were obtained from the legs of patients with varying degrees of chronic venous disease and were assessed for procollagen gene expression by in-situ hybridization and for cell proliferation by immunolocalization of proliferating cell nuclear antigen. 15727634 2005
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.010 GeneticVariation group BEFREE The MTHFR 677TT mutation (RR: 6.92; 3.86-12.4) and its association with the 844ins68 insertion (RR: 21.9; 8.35-57.4), but not the isolated insertion (RR: 0.71), were more frequent in patients and controls with fasting hyperhomocysteinemia than in normohomocysteinemic subjects, irrespective of the type of occlusive disease (venous or arterial). 11057853 2000
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
0.010 AlteredExpression group BEFREE Immunohistochemical staining of skin biopsies revealed an increase in the expression of ICAM-1 and VCAM-1 on endothelial cells in an early stage of venous disease such as stasis dermatitis. 10086854 1999
Entrez Id: 7412
Gene Symbol: VCAM1
VCAM1
0.010 AlteredExpression group BEFREE Immunohistochemical staining of skin biopsies revealed an increase in the expression of ICAM-1 and VCAM-1 on endothelial cells in an early stage of venous disease such as stasis dermatitis. 10086854 1999
Entrez Id: 2247
Gene Symbol: FGF2
FGF2
0.010 Biomarker group BEFREE The roles of basic fibroblast growth factor (bFGF) and platelet-derived growth factor (PDGF) in vein disease and aging were investigated. 9436009 1998