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MUC1 gene polymorphism in the gastric carcinogenesis pathway
F Silva1, F Carvalho, A Peixoto
1Institute of Molecular Pathology and Immunology of the University of Porto, IPATIMUP, Porto, Portugal. fsilva@ipatimup.pt
European Journal of Human Genetics : EJHG
|July 21, 2001
Summary
MUC1 gene variations influence the risk of developing gastric precancerous conditions like chronic atrophic gastritis (CAG) and intestinal metaplasia (IM). Heterozygotes have lower risk, while specific MUC1 genotypes correlate with IM types.
Area of Science:
- Genetics
- Gastroenterology
- Cancer Research
Background:
- MUC1 gene exhibits length polymorphism, with small alleles linked to gastric carcinoma risk.
- Chronic atrophic gastritis (CAG) and intestinal metaplasia (IM) are precancerous conditions for gastric cancer.
Purpose of the Study:
- To investigate the association between MUC1 gene polymorphism and susceptibility to CAG and IM.
- To determine if MUC1 VNTR polymorphism influences the development of gastric precancerous lesions.
Main Methods:
- Evaluated MUC1 polymorphism in 174 individuals with chronic gastritis (CG), including CAG and/or IM.
- Compared MUC1 allele frequencies in CG patients with gastric carcinoma patients and blood donors.
Main Results:
- MUC1 allele frequencies in CG patients differed significantly from gastric carcinoma patients and blood donors.
- CAG and IM showed significantly lower frequency in MUC1 VNTR heterozygotic patients.
- MUC1 large VNTR homozygotes had higher frequency of complete IM, while small VNTR homozygotes had higher frequency of incomplete IM.
Conclusions:
- MUC1 gene polymorphism may indicate varying susceptibility to CAG and IM.
- MUC1 VNTR genotypes appear to influence the progression and type of gastric precancerous lesions.