GSTM1 null polymorphism at the glutathione S-transferase M1 locus: phenotype and genotype studies in patients with primary biliary cirrhosis.

Davies, M H; Elias, E; Acharya, S; Cotton, W; Faulder, G C; Fryer, A A; Strange, R C

Abstract

Studies were carried out to test the hypothesis that the GSTM1 null phenotype at the mu (mu) class glutathione S-transferase 1 locus is associated with an increased predisposition to primary biliary cirrhosis. Starch gel electrophoresis was used to compare the prevalence of GSTM1 null phenotype 0 in patients with end stage primary biliary cirrhosis and a group of controls without evidence of liver disease. The prevalence of GSTM1 null phenotype in the primary biliary cirrhosis and control groups was similar; 39% and 45% respectively. In the primary biliary cirrhosis group all subjects were of the common GSTM1 0, GSTM1 A, GSTM1 B or GSTM1 A, B phenotypes while in the controls, one subject showed an isoform with an anodal mobility compatible with it being a product of the putative GSTM1*3 allele. As the GSTM1 phenotype might be changed by the disease process, the polymerase chain reaction was used to amplify the exon 4-exon 5 region of GSTM1 and show that in 13 control subjects and 11 patients with primary biliary cirrhosis, GSTM1 positive and negative genotypes were associated with corresponding GSTM1 expressing and non-expressing phenotypes respectively. The control subject with GSTM1 3 phenotype showed a positive genotype.

Citation

Davies, M. H., Elias, E., Acharya, S., Cotton, W., Faulder, G. C., Fryer, A. A., & Strange, R. C. (1993). GSTM1 null polymorphism at the glutathione S-transferase M1 locus: phenotype and genotype studies in patients with primary biliary cirrhosis. Gut, 34(4), https://doi.org/10.1136/gut.34.4.549

• Journal Article Type: Article
• Online Publication Date: Apr 1, 1993
• Publication Date: 1993-04
• Deposit Date: Feb 8, 2024
• Journal: Gut
• Print ISSN: 0017-5749
• Publisher: BMJ Publishing Group
• Peer Reviewed: Peer Reviewed
• Volume: 34
• Issue: 4
• DOI: https://doi.org/10.1136/gut.34.4.549
• Publisher URL: https://gut.bmj.com/content/34/4/549
• PMID: 8491405