MUC1 gene polymorphism in the gastric carcinogenesis pathway

MUC1 like most mucin genes shows extensive length polymorphism in the centr al core region. In a previous study it was shown that individuals with smal l MUC1 alleles/genotypes have an increased risk for development of gastric carcinoma. Our aim was to see if MUC1 gene polymorphism was involved in sus ceptibility for the development of conditions that precede gastric carcinom a: chronic atrophic gastritis (CAG) and intestinal metaplasia (IM). We eval uated MUC1 polymorphism in a population of 174 individuals with chronic gas tritis (CG) displaying (CAG) and/or intestinal metaplasia (IM). The populat ion of patients with CG shows MUC1 allele frequencies significantly differe nt from the gastric carcinoma patients and blood donors population. A signi ficantly lower frequency of CAG and IM was observed in MUC1 VNTR heterozygo tic patients. Within the group of patients with IM, MUC1 large VNTR homozyg otes 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 ba ckgrounds for the development of conditions that precede gastric carcinoma: chronic atrophic gastritis (CAG) and intestinal metaplasia (IM).