Gene Locus : human-EPHX1
Mode of mutation : Natural mutant
Disease :
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in hydroxylation of diphenylhydantoin
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
(from OMIM) Hassett et al. (1994) described a correlation between mutant alleles of EPHX and diminished enzymatic activity. They demonstrated by in vitro expression studies of cDNA that substitution of his113 for the more commonly occurring tyr113 residue in exon 3 decreased EPHX activity approximately 40\%. Variation of this type may be responsible for genetic susceptibility to the environmental carcinogen aflatoxin B1 (McGlynn et al., 1995), and explained variation in the frequency of hepatocellular carcinoma (HCC\; 114550). Sarmanova et al. (2001) determined the frequency of polymorphisms in several biotransformation enzymes in patients with morbus Hodgkin and non-Hodgkin lymphomas (NHL\; 605027) and age- and sex-matched healthy individuals. The distribution of genotypes in CYP2E1-intron 6 (124040.0002) was significantly different between the control group and all lymphomas (P = 0.03), patients with NHL (P = 0.024), and especially aggressive diffuse NHL (P = 0.007). The EPHX-exon 3 genotype distribution was significantly different between control males and males with all lymphomas (P = 0.01) or with NHL (P = 0.019). The authors suggested that genetic polymorphisms of biotransformation enzymes may play a significant role in the development of lymphoid malignancies. Zusterzeel et al. (2001) studied genetic variability of the EPHX1 gene in women with a history of preeclampsia. They found a significantly higher frequency of the high activity tyr113\/tyr113 genotype (odds ratio 2.0, 95\% C.I. 1.2-3.7) in women with a history of preeclampsia compared to controls. Tyr113His T\/C rs1051740
| Title : Epoxid hydrolase single gene polymorphism (RS1051740) and severity of chronic obstructive disease - Antonova_2022_Wiad.Lek_75_2779 |
| Author(s) : Antonova I , Gridnyev O , Galchinskaya V |
| Ref : Wiad Lek , 75 :2779 , 2022 |
| PubMedID: 36591768 |
| Gene_locus related to this paper: human-EPHX1 |
| Title : The Tyr113His T\/C rs1051740 and 'very slow' phenotype of the EPHX1 gene alters miR-26b-5p and miR-1207-5p expression in pregnancy - Naidoo_2017_Gene_633_71 |
| Author(s) : Naidoo P , Naidoo RN , Ramkaran P , Asharam K , Chuturgoon AA |
| Ref : Gene , 633 :71 , 2017 |
| PubMedID: 28789952 |
| Gene_locus related to this paper: human-EPHX1 |
| Title : Try113His and His139Arg polymorphisms in the microsomal epoxide hydrolase gene are not associated with risk of breast cancer - Gong_2014_Tumour.Biol_35_8087 |
| Author(s) : Gong WF , He W , Zhang QM , Xiang BD , Ma L , Huang S , Bai T , Zhong JH , Li LQ |
| Ref : Tumour Biol , 35 :8087 , 2014 |
| PubMedID: 24840637 |
| Title : Association of microsomal epoxide hydrolase exon 3 Tyr113His and exon 4 His139Arg polymorphisms with gastric cancer in India - Ghoshal_2013_Indian.J.Gastroenterol_32_246 |
| Author(s) : Ghoshal U , Kumar S , Jaiswal V , Tripathi S , Mittal B , Ghoshal UC |
| Ref : Indian J Gastroenterol , 32 :246 , 2013 |
| PubMedID: 23580125 |
| Title : The Tyr113His polymorphism in exon 3 of the microsomal epoxide hydrolase gene is a risk factor for perinatal mortality - Raijmakers_2004_Acta.Obstet.Gynecol.Scand_83_1056 |
| Author(s) : Raijmakers MT , de Galan-Roosen TE , Schilders GW , Merkus JM , Steegers EA , Peters WH |
| Ref : Acta Obstet Gynecol Scand , 83 :1056 , 2004 |
| PubMedID: 15488121 |
| Title : Epoxide hydrolase Tyr113His polymorphism is not associated with susceptibility to esophageal squamous cell carcinoma in population of North China - Zhang_2003_World.J.Gastroenterol_9_2654 |
| Author(s) : Zhang JH , Jin X , Li Y , Wang R , Guo W , Wang N , Wen DG , Chen ZF , Kuang G , Wei LZ , Wang SJ |
| Ref : World J Gastroenterol , 9 :2654 , 2003 |
| PubMedID: 14669306 |
| Title : Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma risk - To-Figueras_2002_Cancer.Lett_187_95 |
| Author(s) : To-Figueras J , Gene M , Gomez-Catalan J , Pique E , Borrego N , Caballero M , Cruellas F , Raya A , Dicenta M , Corbella J |
| Ref : Cancer Letters , 187 :95 , 2002 |
| PubMedID: 12359356 |
| Title : The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovarian cancer - Spurdle_2001_Mol.Carcinog_30_71 |
| Author(s) : Spurdle AB , Purdie DM , Webb PM , Chen X , Green A , Chenevix-Trench G |
| Ref : Mol Carcinog , 30 :71 , 2001 |
| PubMedID: 11255266 |
| Title : Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas - Sarmanova_2001_Hum.Mol.Genet_10_1265 |
| Author(s) : Sarmanova J , Benesova K , Gut I , Nedelcheva-Kristensen V , Tynkova L , Soucek P |
| Ref : Hum Mol Genet , 10 :1265 , 2001 |
| PubMedID: 11406608 |
| Title : Epoxide hydrolase Tyr113His polymorphism is associated with elevated risk of colorectal polyps in the presence of smoking and high meat intake - Ulrich_2001_Cancer.Epidemiol.Biomarkers.Prev_10_875 |
| Author(s) : Ulrich CM , Bigler J , Whitton JA , Bostick R , Fosdick L , Potter JD |
| Ref : Cancer Epidemiol Biomarkers Prev , 10 :875 , 2001 |
| PubMedID: 11489754 |
| Title : Susceptibility to hepatocellular carcinoma is associated with genetic variation in the enzymatic detoxification of aflatoxin B1 - McGlynn_1995_Proc.Natl.Acad.Sci.U.S.A_92_2384 |
| Author(s) : McGlynn KA , Rosvold EA , Lustbader ED , Hu Y , Clapper ML , Zhou T , Wild CP , Xia XL , Baffoe-Bonnie A , Ofori-Adjei D , Chen GC , London WT , Shen FM , Buetow KH |
| Ref : Proc Natl Acad Sci U S A , 92 :2384 , 1995 |
| PubMedID: 7892276 |
| Title : Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants - Hassett_1994_Hum.Mol.Genet_3_421 |
| Author(s) : Hassett C , Aicher L , Sidhu JS , Omiecinski CJ |
| Ref : Hum Mol Genet , 3 :421 , 1994 |
| PubMedID: 7516776 |
| Gene_locus related to this paper: human-EPHX1 |
| Title : The human microsomal epoxide hydrolase gene (EPHX1): complete nucleotide sequence and structural characterization - Hassett_1994_Genomics_23_433 |
| Author(s) : Hassett C , Robinson KB , Beck NB , Omiecinski CJ |
| Ref : Genomics , 23 :433 , 1994 |
| PubMedID: 7835893 |
| Gene_locus related to this paper: human-EPHX1 |