Genotype-phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients.
Details
Serval ID
serval:BIB_1BC1B74FA478
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genotype-phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients.
Journal
BMC gastroenterology
Working group(s)
Swiss IBD cohort study group
Contributor(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
Publication state
Published
Issued date
03/08/2021
Peer-reviewed
Oui
Volume
21
Number
1
Pages
310
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
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).
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.
Keywords
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
Create date
09/08/2021 10:05
Last modification date
23/11/2022 7:08
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