The Role of Host Genetic Polymorphisms in Helicobacter pylori Mediated Disease Outcome

  • Marguerite ClyneEmail author
  • Marion Rowland
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1149)


The clinical outcome of infection with the chronic gastric pathogen Helicobacter pylori is not the same for all individuals and also differs in different ethnic groups. Infection occurs in early life (<3 years of age), and while all infected persons mount an immune response and develop gastritis, the majority of individuals are asymptomatic. However, up to 10–15% develop duodenal ulceration, up to 1% develop gastric cancer (GC) and up to 0.1% can develop gastric mucosa-associated lymphoid tissue (MALT) lymphoma. The initial immune response fails to clear infection and H. pylori can persist for decades. H. pylori has been classified as a group one carcinogen by the WHO. Interestingly, development of duodenal ulceration protects against GC. Factors that determine the outcome of infection include the genotype of the infecting strains and the environment. Host genetic polymorphisms have also been identified as factors that play a role in mediating the clinical outcome of infection. Several studies present compelling evidence that polymorphisms in genes involved in the immune response such as pro and anti-inflammatory cytokines and pathogen recognition receptors (PRRs) play a role in modulating disease outcome. However, as the number of studies grows emerging confounding factors are small sample size and lack of appropriate controls, lack of consideration of environmental and bacterial factors and ethnicity of the population. This chapter is a review of current evidence that host genetic polymorphisms play a role in mediating persistent H. pylori infection and the consequences of the subsequent inflammatory response.


Helicobacter pylori mediated disease Host genetic polymorphism Toll-like receptor Interleukin 1 beta NOD-like receptor Autophagy 


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.School of Medicine and The Conway Institute of Biomolecular and Biomedical ResearchUniversity College DublinDublinIreland
  2. 2.School of MedicineUniversity College DublinDublinIreland

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