{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T17:02:21Z","timestamp":1774026141655,"version":"3.50.1"},"reference-count":61,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Transl Gastroenterol","Clinical and Translational Gastroenterology"],"abstract":"<jats:sec><jats:title>OBJECTIVES:<\/jats:title><jats:p>The impact of genetic variants (single nucleotide polymorphisms [SNPs]) in the clinical heterogeneity of ulcerative colitis (UC) remains unclear. We showed that patients with UC exhibit a deficiency in<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>glycogene transcription in intestinal T cells associated with a hyperimmune response. Herein, we evaluated whether<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>SNPs might functionally impact on T cells glycosylation and plasma IgG glycome in patients with UC, as well as in UC clinical outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS:<\/jats:title><jats:p>Three selected<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>SNPs (rs3814022, rs4953911, and rs1257220), previously associated with severity of autoimmune disease or with plasma glycome composition in healthy individuals, were functionally evaluated in patients with UC through analysis of<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>mRNA levels in colonic (n = 14) and circulating (n = 24) T cells and through profiling the plasma IgG Fc glycosylation (n = 152).<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>SNPs were genotyped in 931 patients with UC from 2 European cohorts and further associated with patients' prognosis. Targeted next-generation sequencing for<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>coding and regulatory regions was also performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS:<\/jats:title><jats:p><jats:italic toggle=\"yes\">MGAT5<\/jats:italic>SNPs were shown to be functionally associated with low transcription levels of<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>in colonic and circulating T cells from patients with UC and with agalactosylation of IgGs, often associated with a proinflammatory phenotype. The SNPs rs3814022 and rs4953911 were further associated with the need of biologics. Next-generation sequencing data further revealed a combination of<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>SNPs that stratify patients with UC according to their severity.<\/jats:p><\/jats:sec><jats:sec><jats:title>DISCUSSION:<\/jats:title><jats:p>Our results revealed that<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>SNPs have a phenotypic impact on T cells glycosylation and in plasma IgG glycome composition associated with UC pathogenesis.<jats:italic toggle=\"yes\">MGAT5<\/jats:italic>SNPs display a tendency in the association with a worse disease course in patients with UC.<\/jats:p><\/jats:sec>","DOI":"10.14309\/ctg.0000000000000166","type":"journal-article","created":{"date-parts":[[2020,4,25]],"date-time":"2020-04-25T05:55:01Z","timestamp":1587794101000},"page":"e00166","source":"Crossref","is-referenced-by-count":35,"title":["Genetic Variants of the MGAT5 Gene Are Functionally Implicated in the Modulation of T Cells Glycosylation and Plasma IgG Glycome Composition in Ulcerative Colitis"],"prefix":"10.14309","volume":"11","author":[{"given":"M\u00e1rcia S.","family":"Pereira","sequence":"first","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (I3S)\/Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal;"},{"name":"Institute of Biomedical Sciences of Abel Salazar (ICBAS), University of Porto, Porto, Portugal;"}]},{"given":"Cec\u00edlia","family":"Dur\u00e3es","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (I3S)\/Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal;"}]},{"given":"Telmo A.","family":"Catarino","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (I3S)\/Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal;"}]},{"given":"Jos\u00e9 L.","family":"Costa","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (I3S)\/Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal;"},{"name":"Faculty of Medicine, University of Porto, Porto, Portugal;"}]},{"given":"Isabelle","family":"Cleynen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, KU Leuven, Leuven, Belgium;"}]},{"given":"Mislav","family":"Novokmet","sequence":"additional","affiliation":[{"name":"Genos Glycoscience Research Laboratory, Zagreb, Croatia;"}]},{"given":"Jasminka","family":"Kri\u0161ti\u0107","sequence":"additional","affiliation":[{"name":"Genos Glycoscience Research Laboratory, Zagreb, Croatia;"}]},{"given":"Jerko","family":"\u0160tambuk","sequence":"additional","affiliation":[{"name":"Genos Glycoscience Research Laboratory, Zagreb, Croatia;"}]},{"given":"N\u00e1dia","family":"Concei\u00e7\u00e3o-Neto","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, KU Leuven-University of Leuven, Laboratory of Viral Metagenomics, Rega Institute, Leuven, Belgium;"}]},{"given":"Jos\u00e9 C.","family":"Machado","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (I3S)\/Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal;"},{"name":"Faculty of Medicine, University of Porto, Porto, Portugal;"}]},{"given":"Ricardo","family":"Marcos-Pinto","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Sciences of Abel Salazar (ICBAS), University of Porto, Porto, Portugal;"},{"name":"Department of Gastroenterology, Porto Centre Hospital, Porto, Portugal;"}]},{"given":"Fernando","family":"Magro","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Centro Hospitalar de S\u00e3o Jo\u00e3o, Porto, Portugal;"}]},{"given":"S\u00e9verine","family":"Vermeire","sequence":"additional","affiliation":[{"name":"Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium."}]},{"given":"Gordan","family":"Lauc","sequence":"additional","affiliation":[{"name":"Genos Glycoscience Research Laboratory, Zagreb, Croatia;"}]},{"given":"Paula","family":"Lago","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Porto Centre Hospital, Porto, Portugal;"}]},{"given":"Salom\u00e9 S.","family":"Pinho","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (I3S)\/Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal;"},{"name":"Faculty of Medicine, University of Porto, Porto, 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