title: MUC1 gene polymorphism in the gastric carcinogenesis pathway.
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).
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto, IPATIMUP, Porto, Portugal. fsilva@ipatimup.pt
authors.forename: F
authors.initials: F
authors.lastname: Silva
authors.forename: F
authors.initials: F
authors.lastname: Carvalho
authors.forename: A
authors.initials: A
authors.lastname: Peixoto
authors.forename: M
authors.initials: M
authors.lastname: Seixas
authors.forename: R
authors.initials: R
authors.lastname: Almeida
authors.forename: F
authors.initials: F
authors.lastname: Carneiro
authors.forename: P
authors.initials: P
authors.lastname: Mesquita
authors.forename: C
authors.initials: C
authors.lastname: Figueiredo
authors.forename: C
authors.initials: C
authors.lastname: Nogueira
authors.forename: D M
authors.initials: DM
authors.lastname: Swallow
authors.forename: A
authors.initials: A
authors.lastname: Amorim
authors.forename: L
authors.initials: L
authors.lastname: David
mesh_terms: D000328:Adult; D000483:Alleles; D002908:Chronic Disease; D004247:DNA / Q000235:genetics; D005260:Female; D005756:Gastritis / Q000235:genetics; D005757:Gastritis, Atrophic / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics; D018396:Mucin-1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D011174:Portugal; D013274:Stomach Neoplasms / Q000235:genetics*
chemical_list: D018396:Mucin-1; D004247:DNA