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23 p, 7.5 MB The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis / Gómez-Fernández, Paloma (University of the Basque Country) ; Lopez de Lapuente Portilla, Aitzkoa (Lund University) ; Astobiza, Ianire (University of the Basque Country) ; Mena, Jorge (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Urtasun, Andoni (University of the Basque Country) ; Altmann, Vivian (University of Lübeck) ; Matesanz, Fuencisla (Instituto de Parasitología y Biomedicina "López-Neyra") ; Otaegui, David (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Urcelay, Elena (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Antigüedad, Alfredo (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Malhotra, Sunny (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Montalban, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castillo-Triviño, Tamara (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Espino-Paisán, Laura (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Aktas, Orhan (Heinrich-Heine University Düsseldorf) ; Buttmann, Mathias (Caritas Hospital) ; Chan, Andrew (Bern University Hospital) ; Fontaine, Bertrand (University Hospital Pitié-Salpêtrière) ; Gourraud, Pierre-Antoine (CHU de Nantes) ; Hecker, Michael (University of Rostock) ; Hoffjan, Sabine (Ruhr-University Bochum) ; Kubisch, Christian (University Medical Center Hamburg-Eppendorf) ; Kümpfel, Tania (Ludwig-Maximilians University) ; Luessi, Felix (University Medical Center of the Johannes Gutenberg University Mainz) ; Zettl, Uwe K. (University of Rostock) ; Zipp, Frauke (University Medical Center of the Johannes Gutenberg University Mainz) ; Alloza, Iraide (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Comabella, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lill, Christina M. (Imperial College) ; Vandenbroeck, Koen (Ikerbasque) ; Universitat Autònoma de Barcelona
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0. [...]
2020 - 10.3390/cells9010175
Cells, Vol. 9 (january 2020)  

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1 Gourraud, P.A.
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