RGD Reference Report - The clinical relevance and prognostic significance of microsomal epoxide hydrolase gene polymorphisms and their susceptibility to acquired aplastic anemia: an Egyptian study. - Rat Genome Database

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The clinical relevance and prognostic significance of microsomal epoxide hydrolase gene polymorphisms and their susceptibility to acquired aplastic anemia: an Egyptian study.

Authors: Makhlouf, MM  Magdy, RI 
Citation: Makhlouf MM and Magdy RI, Biomarkers. 2016 Mar 21:1-8.
RGD ID: 11252120
Pubmed: PMID:26999617   (View Abstract at PubMed)
DOI: DOI:10.3109/1354750X.2016.1141992   (Journal Full-text)

BACKGROUND: Microsomal epoxide hydrolase enzyme (mEPHX) is involved in xenobiotics detoxification. Two variants of mEPHX, Tyr113His and His139Arg, have been described. Both may lead to acquired aplastic anemia (AA). OBJECTIVES: Assessing mEPHX genetic polymorphisms and detecting their impact on susceptibility and prognosis in Egyptian AA patients. PARTICIPANTS AND METHODS: mEPHX 113 and 139 genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 100 patients with AA and 100 control subjects. RESULTS: Both mEPHX Tyr113His and His139Arg gene polymorphisms were associated with increased risk of developing AA, and have a significant impact of bad prognosis (p value < 0.01). CONCLUSIONS: These mEPHX gene polymorphisms can be considered as risk factors and predictive molecular markers for prognosis in AA patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
aplastic anemia disease_progressionIAGP 11252120DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)RGD 
aplastic anemia disease_progressionISOEPHX1 (Homo sapiens)11252120; 11252120DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ephx1  (epoxide hydrolase 1)

Genes (Mus musculus)
Ephx1  (epoxide hydrolase 1, microsomal)

Genes (Homo sapiens)
EPHX1  (epoxide hydrolase 1)


Additional Information