Search

Your search keyword '"Blattmann M"' showing total 2 results
Start Over Author "Blattmann M" Language undetermined
2 results on '"Blattmann M"'

1. The impact of the rs8005161 polymorphism on G protein-coupled receptor GPR65 (TDAG8) pH-associated activation in intestinal inflammation

Author

Tcymbarevich I, Eloranta J, Spalinger M, Cosin-Roger J, Lang S, Kullak-Ublick G, Wagner C, Seuwen K, Ruiz P, de Valliere C, Abdelrahman K, Ademi G, Aepli P, Thomas A, Anderegg C, Antonino A, Archanioti E, Arrigoni E, de Jong D, Balsiger B, Basturk P, Bauerfeind P, Becocci A, Belli D, Bengoa J, Biedermann L, Binek J, Blattmann M, Boehm S, Boldanova T, Borovicka J, Braegger C, Brand S, Brugger L, Brunner S, Buhr P, Burnand B, Burk S, Burri E, Buyse S, Cao D, Carstens O, Criblez D, 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, Garzoni L, Geyer M, Girard L, Girardin M, Golay D, Good I, Bigler U, 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, Khalid-de Bakker C, Kayser S, Keller C, Knellwolf-Grieger C, Knoblauch C, Kohler H, Koller R, Krieger-Grubel C, Kunzler P, Kusche R, Lehmann F, Macpherson A, Maillard M, Manz M, Marot A, Meier R, Meyenberger C, Meyer P, Michetti P, Misselwitz B, Mosler P, Mottet C, Muller C, Mullhaupt B, Musso L, Neagu M, Nichita C, Niess J, Nydegger A, Obialo N, Ollo D, Oropesa C, Peter U, Peternac D, Petit L, Pittet V, Pohl D, Porzner M, Preissler C, Raschle N, Rentsch R, Restellini A, Restellini S, Richterich J, Ris F, Risti B, Ritz M, Rogler G, Rohrich N, Rossel J, Rueger V, Rusticeanu M, Sagmeister M, Saner G, Sauter B, Sawatzki M, Scharl M, Schelling M, Schibli S, Schlauri H, Schluckebier D, Schmid D, Schmid-Uebelhart S, Schnegg J, Schoepfer A, Seematter V, Seibold F, Seirafi M, Semadeni G, 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, Vogtlin J, Von Kanel R, Vouillamoz D, Vulliamy R, Wiesel P, Wiest R, Wohrle S, Zamora S, Zander S, Wylie T, Zeitz J, Zimmermann D, and Swiss IBD Cohort Study Grp

Subjects
UC, pH-sensing, cAMP, IBD, Acidic pH, RhoA, Inflammatory bowel diseases, CD
Abstract

BackgroundTissue inflammation in inflammatory bowel diseases (IBD) is associated with a decrease in local pH. The gene encoding G-protein-coupled receptor 65 (GPR65) has recently been reported to be a genetic risk factor for IBD. In response to extracellular acidification, proton activation of GPR65 stimulates cAMP and Rho signalling pathways. We aimed to analyse the clinical and functional relevance of the GPR65 associated single nucleotide polymorphism (SNP) rs8005161.Methods1138 individuals from a mixed cohort of IBD patients and healthy volunteers were genotyped for SNPs associated with GPR65 (rs8005161, rs3742704) and galactosylceramidase (rs1805078) by Taqman SNP assays. 2300 patients from the Swiss IBD Cohort Study (SIBDC) were genotyped for rs8005161 by mass spectrometry based SNP genotyping. IBD patients from the SIBDC carrying rs8005161 TT, CT, CC and non-IBD controls (CC) were recruited for functional studies. Human CD14+ cells were isolated from blood samples and subjected to an extracellular acidic pH shift, cAMP accumulation and RhoA activation were measured.ResultsIn our mixed cohort, but not in SIBDC patients, the minor variant rs8005161 was significantly associated with UC. In SIBDC patients, we observed a consistent trend in increased disease severity in patients carrying the rs8005161-TT and rs8005161-CT alleles. No significant differences were observed in the pH associated activation of cAMP production between IBD (TT, CT, WT/CC) and non-IBD (WT/CC) genotype carriers upon an acidic extracellular pH shift. However, we observed significantly impaired RhoA activation after an extracellular acidic pH shift in IBD patients, irrespective of the rs8005161 allele.ConclusionsThe T allele of rs8005161 might confer a more severe disease course in IBD patients. Human monocytes from IBD patients showed impaired pH associated RhoA activation upon an acidic pH shift.

Published
2019

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

Author

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, Marot, Astrid, Ris, Frédéric, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, University of Zurich, Frey-Wagner, Isabelle, Swiss IBD cohort study group, 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., and Zimmermann, D.

Subjects
Genotype, NLR Proteins, 610 Medicine & health, Single-nucleotide polymorphism, RC799-869, Disease, Polymorphism, Single Nucleotide, Inflammatory bowel disease, Pyrin domain, Cohort Studies, NLR Family, Pyrin Domain-Containing 3 Protein, Genetic variation, medicine, Humans, 2715 Gastroenterology, Genetic Predisposition to Disease, Allele, Gene, Genetic Association Studies, integumentary system, ddc:617, Clinical characteristics, 10179 Institute of Medical Microbiology, business.industry, Gastroenterology, Pyrin Domain, Single nucleotide polymorphisms, General Medicine, Diseases of the digestive system. Gastroenterology, Inflammatory Bowel Diseases, medicine.disease, Ulcerative colitis, Colitis, Ulcerative/genetics, Switzerland, NLRP3 inflammasome, 10219 Clinic for Gastroenterology and Hepatology, 10036 Medical Clinic, Immunology, Colitis, Ulcerative, 610 Medizin und Gesundheit, business, Research Article
Abstract

Background 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). Methods 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. Results 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. Conclusions 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.

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results