Article
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.
Cells - 10 Jan 2020
Gómez-Fernández Paloma, Lopez de Lapuente Portilla Aitzkoa, Astobiza Ianire, Mena Jorge, Urtasun Andoni, Altmann Vivian, Matesanz Fuencisla, Otaegui David, Urcelay Elena, Antigüedad Alfredo, Malhotra Sunny, Montalban Xavier, Castillo-Triviño Tamara, Espino-Paisán Laura, Aktas Orhan, Buttmann Mathias, Chan Andrew, Fontaine Bertrand, Gourraud Pierre-Antoine, Hecker Michael, Hoffjan Sabine, Kubisch Christian, Kümpfel Tania, Luessi Felix, Zettl Uwe K, Zipp Frauke, Alloza Iraide, Comabella Manuel, Lill Christina M, Vandenbroeck Koen
Abstract excerpt
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 = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protein isoforms...
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