Genotype-phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients.
Détails
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_1BC1B74FA478
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genotype-phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients.
Périodique
BMC gastroenterology
Collaborateur⸱rice⸱s
Swiss IBD cohort study group
Contributeur⸱rice⸱s
Abdelrahman K., Ademi G., Aepli P., Thomas A., Anderegg C., Antonino A.T., Archanioti E., Arrigoni E., de Jong D.B., Balsiger B., Bastürk P., Bauerfeind P., Becocci A., Belli D., Bengoa J.M., Biedermann L., Binek J., Blattmann M., Boehm S., Boldanova T., Borovicka J., Braegger C.P., Brand S., Brügger L., Brunner S., Bühr P., Burnand B., Burk S., Burri E., Buyse S., Cao D.T., Carstens O., Criblez D.H., Cunningham S., D'Angelo F., de Saussure P., Degen L., Delarive J., Doerig C., Dora B., Drerup S., Egger M., El-Wafa A., Engelmann M., Ezri J., Felley C., Fliegner M., Fournier N., Fraga M., Franc Y., Frei P., Frei R., Fried M., Froehlich F., Furlano R.I., Garzoni L., Geyer M., Girard L., Girardin M., Golay D., Good I., Bigler U.G., Gysi B., Haarer J., Halama M., Haldemann J., Heer P., Heimgartner B., Helbling B., Hengstler P., Herzog D., Hess C., Hessler R., Heyland K., Hinterleitner T., Hirschi C., Hruz P., Juillerat P., Bakker C.K., Kayser S., Keller C., -Grieger C.K., Knoblauch C., Köhler H., Koller R., Krieger-Grübel C., Künzler P., Kusche R., Lehmann F.S., Macpherson A., Maillard M.H., Manz M., Marot A., Meier R., Meyenberger C., Meyer P., Michetti P., Misselwitz B., Mosler P., Mottet C., Müller C., Müllhaupt B., Musso L., Neagu M., Nichita C., Niess J., Nydegger A., Obialo N., Ollo D., Oropesa C., Peter U., Peternac D., Petit L.M., Pittet V., Pohl D., Porzner M., Preissler C., Raschle N., Rentsch R., Restellini A., Restellini S., Richterich J.P., Ris F., Risti B., Ritz M.A., Rogler G., Röhrich N., Rossel J.B., Rueger V., Rusticeanu M., Sagmeister M., Saner G., Sauter B., Sawatzki M., Scharl M., Schelling M., Schibli S., Schlauri H., Schluckebier D., Schmid D., -Uebelhart S.S., Schnegg J.F., Schoepfer A., Seematter V., Seibold F., Seirafi M., Semadeni G.M., Senning A., Sokollik C., Sommer J., Spalinger J., Spangenberger H., Stadler P., Staub P., Staudenmann D., Stenz V., Steuerwald M., Straumann A., Strebel B., Stulz A., Sulz M., Tatu A., Tempia-Caliera M., Thorens J., Truninger K., Tutuian R., Urfer P., Vavricka S., Viani F., Vögtlin J., Von Känel R., Vouillamoz D., Vulliamy R., Wiesel P., Wiest R., Wöhrle S., Zamora S., Zander S., Wylie T., Zeitz J., Zimmermann D.
ISSN
1471-230X (Electronic)
ISSN-L
1471-230X
Statut éditorial
Publié
Date de publication
03/08/2021
Peer-reviewed
Oui
Volume
21
Numéro
1
Pages
310
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
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).
We included 981 Crohn's disease (CD) patients and 690 ulcerative colitis (UC) patients of the SIBDCS. We analyzed whether three CD-associated NLRP3 polymorphisms have an impact on the clinical disease course in these patients.
In CD patients presence of the major allele (G) of rs10733113 was associated with less surgeries and lower maximal CDAI and a similar trend was observed for rs55646866 and rs4353135. Presence of the major allele of all three SNPs was negatively correlated to maximal CDAI. In UC patients homozygous genotype for the major allele (CC) for rs55646866 was associated with a higher age at diagnosis and a higher MTWAI index. Homozygous genotype for the major allele of all three polymorphisms was associated with a higher number of ambulatory visits and longer hospital stays.
In CD patients presence of the major allele of all three polymorphisms was associated with markers of a less severe disease course, while in UC the homozygous genotype for all major alleles suggested a more severe disease activity.
We included 981 Crohn's disease (CD) patients and 690 ulcerative colitis (UC) patients of the SIBDCS. We analyzed whether three CD-associated NLRP3 polymorphisms have an impact on the clinical disease course in these patients.
In CD patients presence of the major allele (G) of rs10733113 was associated with less surgeries and lower maximal CDAI and a similar trend was observed for rs55646866 and rs4353135. Presence of the major allele of all three SNPs was negatively correlated to maximal CDAI. In UC patients homozygous genotype for the major allele (CC) for rs55646866 was associated with a higher age at diagnosis and a higher MTWAI index. Homozygous genotype for the major allele of all three polymorphisms was associated with a higher number of ambulatory visits and longer hospital stays.
In CD patients presence of the major allele of all three polymorphisms was associated with markers of a less severe disease course, while in UC the homozygous genotype for all major alleles suggested a more severe disease activity.
Mots-clé
Cohort Studies, Colitis, Ulcerative/genetics, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Inflammatory Bowel Diseases, NLR Proteins, Polymorphism, Single Nucleotide, Pyrin Domain, Switzerland, Clinical characteristics, Inflammatory bowel disease, NLRP3 inflammasome, Single nucleotide polymorphisms
Pubmed
Création de la notice
09/08/2021 10:05
Dernière modification de la notice
23/11/2022 7:08
Données d'usage
