{"entity": "publication", "iuid": "64732d4ea182446e972b58b009a9b314", "timestamp": "2026-10-01T12:33:49.943Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/64732d4ea182446e972b58b009a9b314.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/64732d4ea182446e972b58b009a9b314"}}, "title": "A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome.", "authors": [{"family": "Bonfiglio", "given": "F", "initials": "F", "orcid": "0000-0003-2488-3867", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f01ce25b0d4d4d03a3cc1975b9426eab.json"}}, {"family": "Henstr\u00f6m", "given": "M", "initials": "M"}, {"family": "Nag", "given": "A", "initials": "A"}, {"family": "Hadizadeh", "given": "F", "initials": "F"}, {"family": "Zheng", "given": "T", "initials": "T"}, {"family": "Cenit", "given": "M C", "initials": "MC"}, {"family": "Tigchelaar", "given": "E", "initials": "E"}, {"family": "Williams", "given": "F", "initials": "F"}, {"family": "Reznichenko", "given": "A", "initials": "A"}, {"family": "Ek", "given": "W E", "initials": "WE"}, {"family": "Rivera", "given": "N V", "initials": "NV"}, {"family": "Homuth", "given": "G", "initials": "G"}, {"family": "Aghdassi", "given": "A A", "initials": "AA"}, {"family": "Kacprowski", "given": "T", "initials": "T"}, {"family": "M\u00e4nnikk\u00f6", "given": "M", "initials": "M"}, {"family": "Karhunen", "given": "V", "initials": "V"}, {"family": "Bujanda", "given": "L", "initials": "L"}, {"family": "Rafter", "given": "J", "initials": "J"}, {"family": "Wijmenga", "given": "C", "initials": "C"}, {"family": "Ronkainen", "given": "J", "initials": "J"}, {"family": "Hysi", "given": "P", "initials": "P"}, {"family": "Zhernakova", "given": "A", "initials": "A"}, {"family": "D'Amato", "given": "M", "initials": "M", "orcid": "0000-0003-2743-5197", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2aee2e052fcc4c7eb043568728f39055.json"}}], "type": "journal article", "published": "2018-09-00", "journal": {"title": "Neurogastroenterol. Motil.", "issn": "1365-2982", "volume": "30", "issue": "9", "pages": "e13358", "issn-l": "1350-1925"}, "abstract": "Irritable bowel syndrome (IBS) shows genetic predisposition, however, large-scale, powered gene mapping studies are lacking. We sought to exploit existing genetic (genotype) and epidemiological (questionnaire) data from a series of population-based cohorts for IBS genome-wide association studies (GWAS) and their meta-analysis.\n\nBased on questionnaire data compatible with Rome III Criteria, we identified a total of 1335 IBS cases and 9768 asymptomatic individuals from 5 independent European genotyped cohorts. Individual GWAS were carried out with sex-adjusted logistic regression under an additive model, followed by meta-analysis using the inverse variance method. Functional annotation of significant results was obtained via a computational pipeline exploiting ontology and interaction networks, and tissue-specific and gene set enrichment analyses.\n\nSuggestive GWAS signals (P \u2264 5.0 \u00d7 10-6 ) were detected for 7 genomic regions, harboring 64 gene candidates to affect IBS risk via functional or expression changes. Functional annotation of this gene set convincingly (best FDR-corrected P = 3.1 \u00d7 10-10 ) highlighted regulation of ion channel activity as the most plausible pathway affecting IBS risk.\n\nOur results confirm the feasibility of population-based studies for gene-discovery efforts in IBS, identify risk genes and loci to be prioritized in independent follow-ups, and pinpoint ion channels as important players and potential therapeutic targets warranting further investigation.", "doi": "10.1111/nmo.13358", "pmid": "29673008", "labels": [], "xrefs": [{"db": "GENBANK", "key": "rs17112758"}], "notes": [], "created": "2026-09-23T09:23:52.858Z", "modified": "2026-09-23T09:23:52.982Z"}