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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Genetic susceptibility, environmental risk factors, and incident gastric cancer risk among individuals with different <i>Helicobacter pylori</i> infection status: a population-based study.

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Related Experiment Video

Updated: Jan 7, 2026

Gastric Mucosa Quantitative Polymerase Chain Reaction Analysis for Detecting Helicobacter pylori and Antibiotic Resistance
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Host Genetic Variants Associated With Helicobacter pylori Infection: A Meta-Analysis Combined With Functional

Wen-Jing Zhao1, Heng-Min Xu1, Chao Zhang1

  • 1State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers, Department of Cancer Epidemiology, Peking University Cancer Hospital & Institute, Beijing, China.

Helicobacter
|December 29, 2025
PubMed
Summary

Host genetics influence Helicobacter pylori (H. pylori) infection susceptibility and gastric cancer (GC) risk. Genetic variants identified may contribute to H. pylori-related GC development, highlighting host-pathogen interactions.

Keywords:
Helicobacter pylori infectiongenetic polymorphismmeta‐analysisstomach neoplasmsvirulence factors

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Area of Science:

  • Genetics
  • Infectious Diseases
  • Oncology

Background:

  • Helicobacter pylori (H. pylori) infection is a significant risk factor for gastric cancer (GC).
  • Host genetic factors play a crucial role in determining susceptibility to H. pylori infection.
  • Racial disparities in H. pylori infection rates suggest a genetic component independent of socioeconomic status.

Purpose of the Study:

  • To investigate host genetic susceptibility to H. pylori infection.
  • To identify genetic variants associated with H. pylori infection.
  • To examine the influence of these variants on gastric cancer risk.

Main Methods:

  • Conducted meta-analyses on candidate and genome-wide genetic variants for H. pylori association.
  • Assessed genetic association credibility using Bayesian False-Discovery Probability and Venice criteria.
  • Utilized GTEx and eQTLGen databases for cis-expression quantitative trait locus (eQTL) analysis.
  • Analyzed differential gene expression in H. pylori-infected and GC tissues using TCGA, GTEx, and RNA-sequencing data.

Main Results:

  • Identified 47 variants across 18 loci associated with H. pylori susceptibility from 83 studies.
  • Discovered 29 cis-eQTLs affecting the expression of 42 genes.
  • Found seven genes at three loci (4p14, 6p21.33, 14q32.2) consistently upregulated in H. pylori infection and GC, potentially contributing to GC development.

Conclusions:

  • Host genetic predisposition significantly impacts the likelihood of H. pylori infection.
  • These findings underscore the critical role of host-pathogen interactions in infection dynamics.
  • Host genetics are important in the development of H. pylori-related gastric cancer.