Genetics of irritable bowel syndrome: shifting gear via biobank-scale studies

Michael Camilleri, Alexandra Zhernakova, Isotta Bozzarelli, Mauro D’Amato

Research output: Contribution to journalReview articlepeer-review


The pathophysiology of irritable bowel syndrome (IBS) is multifactorial and probably involves genetic predisposition and the effect of environmental factors. Unlike other gastrointestinal diseases with a heritable component, genetic research in IBS has been scarce and mostly characterized by small underpowered studies, leading to inconclusive results. The availability of genomic and health-related data from large international cohorts and population-based biobanks offers unprecedented opportunities for long-awaited, well-powered genetic studies in IBS. This Review focuses on the latest advances that provide compelling evidence for the importance of genes involved in the digestion of carbohydrates, ion channel function, neurotransmitters and their receptors, neuronal pathways and the control of gut motility. These discoveries have generated novel information that might be further refined for the identification of predisposed individuals and selection of management strategies for patients. This Review presents a conceptual framework, the advantages and potential limitations of modern genetic research in IBS, and a summary of available evidence.

Original languageEnglish (US)
Pages (from-to)689-702
Number of pages14
JournalNature Reviews Gastroenterology and Hepatology
Issue number11
StatePublished - Nov 2022

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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