|Disease Association||Defects in EPHX1 are a cause of familial hypercholanemia (FHCA) (MIM:607748). FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.|
[PMID 21190234] Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk
[PMID 21480392] Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk
[PMID 22355322] Gene-Gene and Gene-Environmental Interactions of Childhood Asthma: A Multifactor Dimension Reduction Approach
|Disease||Lymphoproliferative disorders Preeclampsia Emphysema Pulmonary disease carbamazepine response - Dosage|
|CLNDBN||Lymphoproliferative disorders, susceptibility to Preeclampsia, susceptibility to Emphysema, susceptibility to Pulmonary disease, chronic obstructive, susceptibility to carbamazepine response - Dosage|
|CLNSRC||OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)|
|CLNACC||RCV000018075.3, RCV000018076.3, RCV000018077.3, RCV000018078.3, RCV000211229.1,|
[PMID 17048007] Association of warfarin dose with genes involved in its action and metabolism.
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
[PMID 17160896] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
[PMID 17548691] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.
[PMID 17885617] Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18298806] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
[PMID 18439551] Genetic architecture of transcript-level variation in humans.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18632753] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
[PMID 18978678] Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
[PMID 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
[PMID 19017876] Genetic associations with hypoxemia and pulmonary arterial pressure in COPD.
[PMID 19131562] Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.
[PMID 19479063] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
[PMID 20233420] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.
[PMID 20932192] Microsomal epoxide hydrolase gene polymorphisms and susceptibility to chronic obstructive pulmonary disease in the Tunisian population.
[PMID 21453055] Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians.
[PMID 21653646] Genetically lowered microsomal epoxide hydrolase activity and tobacco-related cancer in 47,000 individuals.
[PMID 22200898] Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).
[PMID 22569204] PharmGKB summary: phenytoin pathway.
[PMID 22994552] Maternal Variation in EPHX1, a Xenobiotic Metabolism Gene, Is Associated with Childhood Medulloblastoma: An Exploratory Case-Parent Triad Study
|qualified_impact||Insufficiently evaluated pharmacogenetic|
|summary||This gene is involved in response to oxidative stress, and the 113H variant is associated with lower enzyme activity, apparently through disruption of protein stability rather than enzymatic function of the protein itself. Several studies have attempted to link this variant to cancer, lung disease, and other associations, but it is unclear which of these are results reproducible and validated.|
[PMID 23651475] Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study
[PMID 23742121] mEH Tyr113His polymorphism and the risk of ovarian cancer development
[PMID 24084248] The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23797950] Microsomal epoxide hydrolase (EPHX1) polymorphisms are associated with aberrant promoter methylation of ERCC3 and hematotoxicity in benzene-exposed workers.