Scientific article
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English

Genotype-phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients

CollaboratorsRis, Frédéric
Published inBMC Gastroenterology, vol. 21, no. 1, 310
Publication date2021
Abstract

Genetic variations within the regulatory region of the gene encoding NOD-like receptor pyrin domain containing 3 (NLRP3) have been associated with Crohn's Disease (CD). NLRP3 is part of the NLRP3-inflammasome that mediates the maturation of IL-1β and IL-18. Carrying the major allele of the single nucleotide polymorphisms (SNPs) rs10733113, rs4353135 and rs55646866 is associated with an increased risk for CD. We here studied the impact of these polymorphisms on clinical characteristics in patients of the Swiss IBD Cohort Study (SIBDCS).

Keywords
  • Clinical characteristics
  • Inflammatory bowel disease
  • NLRP3 inflammasome
  • Single nucleotide polymorphisms
Citation (ISO format)
YOGANATHAN, Priyatharsan et al. Genotype-phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients. In: BMC Gastroenterology, 2021, vol. 21, n° 1, p. 310. doi: 10.1186/s12876-021-01880-9
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Article (Published version)
Identifiers
Journal ISSN1471-230X
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Creation08/31/2021 10:12:00 AM
First validation08/31/2021 10:12:00 AM
Update time06/02/2025 12:52:58 PM
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