en
Scientific article
Open access
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
Funding
  • Swiss National Science Foundation - 3347CO-108792
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
Main files (1)
Article (Published version)
Identifiers
ISSN of the journal1471-230X
131views
88downloads

Technical informations

Creation08/31/2021 10:12:00 AM
First validation08/31/2021 10:12:00 AM
Update time03/16/2023 1:56:39 AM
Status update03/16/2023 1:56:37 AM
Last indexation02/12/2024 12:15:50 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack