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DOI 10.1038/s41467-025-56719-8

Медицинская библиотека · Nature communications · 2025

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand Nick, Stuart Philip E, Bowes John, Ellinghaus David, Nititham Joanne, Saklatvala Jake R, Teder-Laving Maris, Thomas Laurent F, Traks Tanel, Uebe Steffen, Assmann Gunter, Baudry David, Behrens Frank, Billi Allison C, Brown Matthew A, Burkhardt Harald, Capon Francesca, Chung Raymond, Curtis Charles J, Duckworth Michael, Ellinghaus Eva, FitzGerald Oliver, Gerdes Sascha, Griffiths Christopher E M, Gulliver Susanne, Helliwell Philip S, Ho Pauline, Hoffmann Per, Holmen Oddgeir L, Huang Zhi-Ming, Hveem Kristian, Jadon Deepak, Köhm Michaela, Kraus Cornelia, Lamacchia Céline, Lee Sang Hyuck, Ma Feiyang, Mahil Satveer K, McHugh Neil, McManus Ross, Modalsli Ellen H, Nissen Michael J, Nöthen Markus, Oji Vinzenz, Oksenberg Jorge R, Patrick Matthew T, Perez White Bethany E, Ramming Andreas, Rech Jürgen, Rosen Cheryl, Sarkar Mrinal K, Schett Georg, Schmidt Börge, Tejasvi Trilokraj, Traupe Heiko, Voorhees John J, Wacker Eike Matthias, Warren Richard B, Wasikowski Rachael, Weidinger Stephan, Wen Xiaoquan, Zhang Zhaolin, BSTOP study group, Estonian Biobank research team, Barton Anne, Chandran Vinod, Esko Tõnu, Foerster John, Franke Andre, Gladman Dafna D, Gudjonsson Johann E, Gulliver Wayne, Hüffmeier Ulrike, Kingo Külli, Kõks Sulev, Liao Wilson, Løset Mari, Mägi Reedik, Nair Rajan P, Rahman Proton, Reis André, Smith Catherine H, Di Meglio Paola, Barker Jonathan N, Tsoi Lam C, Simpson Michael A, Elder James T

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Аннотация

Psoriasis is a common, debilitating immune-mediated skin disease. Genetic studies have identified biological mechanisms of psoriasis risk, including those targeted by effective therapies. However, the genetic liability to psoriasis is not fully explained by variation at robustly identified risk loci. To refine the genetic map of psoriasis susceptibility we meta-analysed 18 GWAS comprising 36,466 cases and 458,078 controls and identified 109 distinct psoriasis susceptibility loci, including 46 that have not been previously reported. These include susceptibility variants at loci in which the therapeutic targets IL17RA and AHR are encoded, and deleterious coding variants supporting potential new drug targets (including in STAP2, CPVL and POU2F3). We conducted a transcriptome-wide association study to identify regulatory effects of psoriasis susceptibility variants and cross-referenced these against single cell expression profiles in psoriasis-affected skin, highlighting roles for the transcriptional regulation of haematopoietic cell development and epigenetic modulation of interferon signalling in psoriasis pathobiology.

Для цитирования: Dand Nick, Stuart Philip E, Bowes John, Ellinghaus David, Nititham Joanne, Saklatvala Jake R, Teder-Laving Maris, Thomas Laurent F, Traks Tanel, Uebe Steffen, Assmann Gunter, Baudry David, Behrens Frank, Billi Allison C, Brown Matthew A, Burkhardt Harald, Capon Francesca, Chung Raymond, Curtis Charles J, Duckworth Michael, Ellinghaus Eva, FitzGerald Oliver, Gerdes Sascha, Griffiths Christopher E M, Gulliver Susanne, Helliwell Philip S, Ho Pauline, Hoffmann Per, Holmen Oddgeir L, Huang Zhi-Ming, Hveem Kristian, Jadon Deepak, Köhm Michaela, Kraus Cornelia, Lamacchia Céline, Lee Sang Hyuck, Ma Feiyang, Mahil Satveer K, McHugh Neil, McManus Ross, Modalsli Ellen H, Nissen Michael J, Nöthen Markus, Oji Vinzenz, Oksenberg Jorge R, Patrick Matthew T, Perez White Bethany E, Ramming Andreas, Rech Jürgen, Rosen Cheryl, Sarkar Mrinal K, Schett Georg, Schmidt Börge, Tejasvi Trilokraj, Traupe Heiko, Voorhees John J, Wacker Eike Matthias, Warren Richard B, Wasikowski Rachael, Weidinger Stephan, Wen Xiaoquan, Zhang Zhaolin, BSTOP study group, Estonian Biobank research team, Barton Anne, Chandran Vinod, Esko Tõnu, Foerster John, Franke Andre, Gladman Dafna D, Gudjonsson Johann E, Gulliver Wayne, Hüffmeier Ulrike, Kingo Külli, Kõks Sulev, Liao Wilson, Løset Mari, Mägi Reedik, Nair Rajan P, Rahman Proton, Reis André, Smith Catherine H, Di Meglio Paola, Barker Jonathan N, Tsoi Lam C, Simpson Michael A, Elder James T. GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.. Nature communications. 2025. DOI: 10.1038/s41467-025-56719-8.

Предметные рубрики MeSH

PsoriasisHumansGenome-Wide Association StudyGenetic Predisposition to DiseaseAllelesPolymorphism, Single NucleotideTranscriptome
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