Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Because alcoholic hepatitis and cirrhosis, well-known complications of alcohol abuse, do not occur in all alcoholics, genetic factors such as differences in alcohol-metabolizing enzymes may play a role in the development of alcoholic liver disease. Cytochrome P450IIE1 catalyzes the oxidation of ethanol, producing acetaldehyde and free radicals capable of reacting with and peroxidizing cell membranes. Polymorphisms have been identified in the 5'-flanking region of the P450IIE1 gene that may alter the transcriptional activity of the gene. In this study, we analyzed the P450IIE1 genotypes at the polymorphic PstI and RsaI restriction enzyme sites in 53 Caucasians with severe alcoholic liver disease to determine if there is an association between these polymorphisms and alcoholic liver disease. Subjects that tested positive for the hepatitis C virus were eliminated from the study. To identify the type A (homozygous for the c1 gene), type B (heterozygous for the c1 and c2 genes), and type C (homozygous for the c2 gene) genotypes at the P450IIE1 locus, DNA encompassing the polymorphisms was amplified by polymerase chain reaction, slot-blotted, and probed with allele-specific oligonucleotides. Allele frequencies for the c1 allele were 0.95 for alcoholics with severe liver disease, 0.95 for alcoholics without liver disease, and 0.98 for the general population. No differences in allele frequencies between alcoholic patients with severe liver disease and alcoholics without liver disease were observed.
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PMID:Polymorphism at the P450IIE1 locus is not associated with alcoholic liver disease in Caucasian men. 777 48

Cytochrome P450IIE1 metabolises, and is induced by ethanol. The 5' regulatory sequence of the gene is polymorphic; that identified by the c2 allele has been shown by transfection studies to confer an increased rate of transcription. A recent report indicating an association between this allele and alcohol induced cirrhosis suggests that it may contribute to the genetic vulnerability to this disease. We have examined this polymorphism in patients of western European origin with alcohol induced cirrhosis, alcohol Korsakoff's syndrome and alcohol dependence syndrome. We were unable to detect any association between this allele and any of these diseases.
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PMID:No association between the c2 allele at the cytochrome P450IIE1 gene and alcohol induced liver disease, alcohol Korsakoff's syndrome or alcohol dependence syndrome. 855 66