Abstract
MUC1 like most mucin genes shows extensive length polymorphism in the central core region. In a previous study it was shown that individuals with small MUC1 alleles/genotypes have an increased risk for development of gastric carcinoma. Our aim was to see if MUC1 gene polymorphism was involved in susceptibility for the development of conditions that precede gastric carcinoma: chronic atrophic gastritis (CAG) and intestinal metaplasia (IM). We evaluated MUC1 polymorphism in a population of 174 individuals with chronic gastritis (CG) displaying (CAG) and/or intestinal metaplasia (IM). The population of patients with CG shows MUC1 allele frequencies significantly different from the gastric carcinoma patients and blood donors population. A significantly lower frequency of CAG and IM was observed in MUC1 VNTR heterozygotic patients. Within the group of patients with IM, MUC1 large VNTR homozygotes show a significantly higher frequency of complete IM while small VNTR homozygotes show a significantly higher frequency of incomplete IM. These findings show that MUC1 polymorphism may define different susceptibility backgrounds for the development of conditions that precede gastric carcinoma: chronic atrophic gastritis (CAG) and intestinal metaplasia (IM).
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Acknowledgements
We thank Professor Manuel Sobrinho-Simões for many helpful suggestions and critical reading of the manuscript. The authors are grateful to the following departments where patient's data and samples were collected: Estaleiros Navais de Viana do Castelo, Departments of Surgery 3 and Gastroenterology of Hospital S. João, Porto, Portugal. This work was supported by grants from: Fundação para a Ciência e a Tecnologia (PRAXIS XXI, Project SAU/14111/1998), EU Concerted Action BMH4-CT98-3222 and Administração Regional de Saúde do Norte.
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Silva, F., Carvalho, F., Peixoto, A. et al. MUC1 gene polymorphism in the gastric carcinogenesis pathway. Eur J Hum Genet 9, 548–552 (2001). https://doi.org/10.1038/sj.ejhg.5200677
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DOI: https://doi.org/10.1038/sj.ejhg.5200677
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