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

Publication

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

Journal Paper/Review - Aug 3, 2021

Yoganathan Priyatharsan, Rossel Jean-Benoit, Jordi Sebastian Bruno Ulrich, Franc Yannick, Biedermann Luc, Misselwitz Benjamin, Hausmann Martin, Rogler Gerhard, Scharl Michael, Frey-Wagner Isabelle, Swiss IBD Cohort Study Group

Citation

Yoganathan P, Rossel J, Jordi S, Franc Y, Biedermann L, Misselwitz B, Hausmann M, Rogler G, Scharl M, Frey-Wagner I, Swiss IBD Cohort Study Group. Genotype-phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients. BMC Gastroenterol 2021; 21:310.

Type

Journal Paper/Review (English)

Journal

BMC Gastroenterol 2021; 21

Publication Date

Aug 3, 2021

Issn Electronic

1471-230X

Pages

310

Brief description/objective

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).