Detoxification enzyme polymorphisms are not involved in duodenal adenomatosis in familial adenomatous polyposis

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 compa...

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Published in:British journal of surgery 2008-04, Vol.95 (4), p.499-505
Main Authors: Berkhout, M., Roelofs, H. M. J., te Morsche, R. H. M., Dekker, E., van Krieken, J. H. J. M., Nagengast, F. M., Peters, W. H. M.
Format: Article
Language:English
Subjects:
Adenomatous Polyposis Coli - enzymology
Adult
Biological and medical sciences
Duodenal Neoplasms - enzymology
Female
Gastroenterology. Liver. Pancreas. Abdomen
General aspects
Genes, APC
Genotype
Glucuronosyltransferase - genetics
Glutathione Transferase - genetics
Humans
Male
Medical sciences
Polymorphism, Genetic - genetics
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
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Summary: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. Methods: 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. No role for these factors
ISSN:0007-1323
1365-2168
DOI:10.1002/bjs.6027