The international surgical journal with global reach

This is the Scientific Surgery Archive, which contains all randomized clinical trials in surgery that have been identified by searching the top 50 English language medical journal issues since January 1998. Compiled by Jonothan J. Earnshaw, former Editor-in-Chief, BJS

Detoxification enzyme polymorphisms are not involved in duodenal adenomatosis in familial adenomatous polyposis. BJS 2008; 95: 499-505.

Published: 28th December 2007

Authors: M. Berkhout, H. M. J. Roelofs, R. H. M. te Morsche, E. Dekker, J. H. J. M. van Krieken, F. M. Nagengast et al.

Background

Patients with familial adenomatous polyposis (FAP) are at high risk of developing duodenal adenomas and carcinomas. Besides germline mutations in the adenomatous polyposis coli (APC) gene, additional factors may influence the age of onset and number of duodenal adenomas. This study compared the genotype distributions of duodenal detoxification enzyme isoforms in patients with FAP and controls.

Method

The study included 85 patients with FAP and 218 healthy age‐ and sex‐matched controls. Genotyping of all participants using polymerase chain reaction was performed to detect polymorphisms in isoforms of uridine 5′‐diphosphate glucuronosyltransferases (UGTs) and glutathione S‐transferases (GSTs): UGT1A1, UGT1A3, UGT1A4, UGT1A6, UGT1A10, UGT2B4, UGT2B7, UGT2B15, GSTA1, GSTP1, GSTM1 and GSTT1.

Results

The variant genotypes of UGT1A3 were less common in patients with FAP than in controls (odds ratio 0·39 (95 per cent confidence interval 0·22 to 0·67)). There were no associations between FAP and the other polymorphic genes. The polymorphisms investigated had no predictive value for the severity of duodenal adenomatosis in patients with FAP.

Conclusion

Although the variant genotypes of UGT1A3 were less common in patients with FAP than in those without, this did not modulate the severity of duodenal adenomatosis. Copyright © 2007 British Journal of Surgery Society Ltd. Published by John Wiley & Sons, Ltd.

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