EPHX1, epoxide hydrolase 1, 2052

N. diseases: 196; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE The aim of the present work was to investigate the association between the Y113H polymorphism (rs1051740) in EPHX1 gene and -308G/A polymorphism (rs1800629) in TNF-a gene and COPD in Kazakhstan population. 28464990 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Genetic polymorphisms in HOX-1 and mEPH genes are associated with the development of COPD in Southwest China. 17203192 2007
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Combination of 113His/His EPHX1/null-GSTM1 genotypes showed a significant association with the decrease of Δ FEV1 in patients (P =0.028).In conclusion, our results suggest combined EPHX1, GSTP1, GSTM1 and GSTT1 genetic polymorphisms may play a significant role in the development of COPD, emphysema and decline of the lung function. 21734345 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease LHGDN In addition, none of the EPHX1 haplotypes were associated with an increased risk of any COPD phenotype. 17564249 2006
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE As expected, wild homozygotes for GSTP1 Ile105Val and EPHX1 slow/very slow phenotypes were associated with susceptibility (P=0.031) and severity (P=0.036) of COPD, respectively. 21651746 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE In addition, none of the EPHX1 haplotypes were associated with an increased risk of any COPD phenotype. 17564249 2006
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE No association of variation was found in EPHX1 or GCL with susceptibility to COPD or disease severity. 18614560 2008
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Polymorphisms for microsomal epoxide hydrolase and genetic susceptibility to COPD. 15702235 2005
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE The test-replication approach identified four genes-microsomal epoxide hydrolase (EPHX1), latent transforming growth factor-beta binding protein-4 (LTBP4), surfactant protein B (SFTPB), and transforming growth factor-beta1 (TGFB1)-that were associated with COPD-related phenotypes. 16456143 2006
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE It is proposed that the combination of genetic variants including at least one mutant microsomal epoxide hydrolase exon-3 allele and glutathione S-transferase M1-null and homozygous isoleucine 105 glutathione S-transferase P1 genotypes are significant indicators of susceptibility to chronic obstructive pulmonary disease in the Taiwanese population. 15218992 2004
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease LHGDN In a case-control analysis of COPD susceptibility limited to cases with densitometric upper-lobe-predominant cases, the EPHX1 His139Arg single-nucleotide polymorphism was associated with COPD (p = 0.005). 17363767 2007
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Although none of the tested gene polymorphisms was significantly related to an increased risk of COPD alone, our results suggest that the homozygous exon 3 mutant variant of EPHX1 gene in the combination with GSTM1 null genotype is a significant predictor of increased susceptibility to COPD in the Slovak population. 18461673 2008
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE In a case-control analysis of COPD susceptibility limited to cases with densitometric upper-lobe-predominant cases, the EPHX1 His139Arg single-nucleotide polymorphism was associated with COPD (p = 0.005). 17363767 2007
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease LHGDN Polymorphisms for microsomal epoxide hydrolase and genetic susceptibility to COPD. 15702235 2005
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE An increased risk for COPD was observed in subjects with EPHX1 His113-His113 genotype (odds ratio = 2.168; confidence interval 1.098-4.283; p = 0.02386). 20932192 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Consequently, heme oxygenase-1 (HO-1), superoxide dismutase (SOD), catalase (CAT), glutathione S-transferase (GST), microsomal epoxide hydrolase (EPHX1), and cytochrome P450 (CYP) genetic polymorphisms may have an important role in COPD pathogenesis. 21721950 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Analyses of association between PPAR gamma and EPHX1 polymorphisms and susceptibility to COPD in a Hungarian cohort, a case-control study. 21044285 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease LHGDN Although none of the tested gene polymorphisms was significantly related to an increased risk of COPD alone, our results suggest that the homozygous exon 3 mutant variant of EPHX1 gene in the combination with GSTM1 null genotype is a significant predictor of increased susceptibility to COPD in the Slovak population. 18461673 2008
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE An association between exon 3 polymorphisms of the gene encoding microsomal epoxide hydrolase (mEH) and susceptibility to the development of chronic obstructive pulmonary disease (COPD) has been described. 12234472 2002
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Thus, we found that the frequency of the variant allele for mEPHX codon 113 is higher in Japanese than that in Caucasians (P=0.0028), a novel silent polymorphism exists in exon 3 and shows strong linkage disequilibrium with the wild allele for codon 113, and individual homozygous variants for codon 113 may be associated with development of advanced COPD rather than the susceptibility to COPD. 10601573 2000
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE When the exon 3 and 4 polymorphisms were considered together, the combined EPHX1 His113His113/His139His139 genotype (very low predicted enzyme activity) was found to be associated with an increased risk of lung cancer (P = 0.044, OR = 3.063, CI = 0.932-10.069). 21302624 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE The exon 3 polymorphism of the mEH gene was associated with a significantly decreased risk of lung cancer. 12915882 2003
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE Sensitivity analyses and subgroup analyses further identified the significant association between the EPHX1 A139G polymorphism and lung cancer risk. 23055191 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE These findings suggest that the presence of the exon 4 and exon 3 polymorphisms of mEPHX may be associated with an increased risk of lung cancer particularly among younger Mexican-Americans in this study. 11375900 2001
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and the C-Allele of EPHX1(His113Tyr) to play a protective role in early onset lung cancer susceptibility. 18298806 2008