# Association between MUC1 rs4072037 polymorphism and Helicobacter pylori in patients with gastric cancer

## TL;DR

This study investigates how a genetic variation in the MUC1 gene interacts with Helicobacter pylori infection to influence the risk of gastric cancer.

## Contribution

The study reveals a potential interaction between the MUC1 rs4072037 polymorphism and H. pylori infection in increasing gastric cancer risk.

## Key findings

- No significant relationship was found between rs4072037G>A polymorphism and gastric cancer risk.
- The GA/GG genotype combined with H. pylori infection showed significantly increased susceptibility to gastric cancer.
- H. pylori infection interacts with rs4072037G>A polymorphism to influence gastric cancer risk.

## Abstract

The MUC1 gene encodes glycoproteins attached to cell membrane that play a protective role in gastric cancer and protect epithelial surfaces against external factors such as Helicobacter pylori. H. pylori infection can induce a cascade of innate and acquired immune responses in gastric mucosa. Relationship between rs4072037G>A polymorphism of MUC1 gene and increased susceptibility to H. pylori infection aimed to investigate in patients with gastric cancer in Mazandaran, northern Iran.

A case-control study was conducted on 99 patients with gastric cancer (H. pylori positive and negative) and 98 controls (H. pylori positive and negative) without gastric cancer (confirmed by pathological biopsy samples obtained during endoscopy). H. pylori infection was diagnosed by histological examination using Giemsa staining. Genomic DNA extracted from peripheral blood was analyzed by PCR-RFLP technique.

Analysis of all genetic models showed no significant relationship between rs4072037G>A polymorphism and risk of gastric cancer (GC). The relationship between H. pylori infection and rs4072037G>A polymorphism showed an increased susceptibility to gastric cancer in both positive and negative H. pylori groups (including case and control groups). The genetic model of GA/GG and H. pylori- positive versus GA/GG and H. pylori-negative showed a significantly increased susceptibility to gastric cancer (OR=0.251, CI: 0.128-0.493, P=0.000).

These findings indicate that rs4072037G>A polymorphism may interact with H. pylori infection to increase the risk of GC.