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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
Xie, Jingyuan (Shanghai Jiao Tong University School of Medicine)
Liu, Lili (Columbia University)
Mladkova, Nikol (Columbia University)
Li, Yifu (Columbia University)
Ren, Hong (Shanghai Jiao Tong University School of Medicine)
Wang, Weiming (Shanghai Jiao Tong University School of Medicine)
Cui, Zhao (Key Laboratory of Renal Disease, Ministry of Health of China)
Lin, Li (Shanghai Jiao Tong University School of Medicine)
Hu, Xiaofan (Shanghai Jiao Tong University School of Medicine)
Yu, Xialian (Shanghai Jiao Tong University School of Medicine)
Xu, Jing (Shanghai Jiao Tong University School of Medicine)
Liu, Gang (Key Laboratory of CKD Prevention and Treatment, Ministry of Education of China)
Caliskan, Yasar (Istanbul University)
Sidore, Carlo (Istituto di Ricerca Genetica e Biomedica)
Balderes, Olivia (Columbia University)
Rosen, Raphael J. (Columbia University)
Bodria, Monica (University of Parma)
Zanoni, Francesca (Nephrology Dialysis and Kidney Transplant Unit)
Zhang, Jun Y. (Columbia University)
Krithivasan, Priya (Columbia University)
Mehl, Karla (Columbia University)
Marasa, Maddalena (Columbia University)
Khan, Atlas (Columbia University)
Ozay, Fatih (Columbia University)
Canetta, Pietro A. (Columbia University)
Bomback, Andrew S. (Columbia University)
Appel, Gerald B. (Columbia University)
Sanna-Cherchi, Simone (Columbia University)
Sampson, Matthew G. (University of Michigan School of Medicine)
Mariani, Laura H. (Arbor Research Collaborative for Health)
Perkowska-Ptasinska, Agnieszka (Medical University of Warsaw)
Durlik, Magdalena (Medical University of Warsaw)
Mucha, Krzysztof (Institute of Biochemistry and Biophysics)
Moszczuk, Barbara (Medical University of Warsaw)
Foroncewicz, Bartosz (Medical University of Warsaw)
Pączek, Leszek (Institute of Biochemistry and Biophysics)
Habura, Ireneusz (Department of Nephrology)
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau)
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau)
Mani, Laila-Yasmin (Bern University Hospital)
Vogt, Bruno (Bern University Hospital)
Ozturk, Savas (Nephrology Clinic)
Yildiz, Abdülmecit (Uludag University)
Arikan, Hakki (Marmara University School of Medicine)
Koc, Mehmet (Marmara University)
Basturk, Taner (Sisli Hamidiye Etfal Training and Research Hospital)
Karahan, Gonca (Istanbul University)
Akgul, Sebahat Usta (Istanbul University)
Sever, Mehmet Sukru (Istanbul University)
Zhang, Dan (Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine)
Santoro, Domenico (University of Messina)
Bonomini, Mario (University of Chieti-Pescara)
Londrino, Francesco (S. Andrea Hospital)
Gesualdo, Loreto (University of Bari)
Reiterova, Jana (Charles University)
Tesar, Vladimir (Charles University)
Izzi, Claudia (ASST Spedali Civili di Brescia)
Savoldi, Silvana (Unit of Nephrology and Dialysis ASL TO4, Cirié, Turin, Italy)
Spotti, Donatella (San Raffaele Hospital)
Marcantoni, Carmelita (Cannizzaro Hospital)
Messa, Piergiorgio (Università degli studi di Milano)
Galliani, Marco (Sandro Pertini Hospital)
Roccatello, Dario (University of Turin)
Granata, Simona (University of Verona)
Zaza, Gianluigi (University of Verona)
Lugani, Francesca (IRCCS Giannina Gaslini, Genoa, Italy)
Ghiggeri, GianMarco (IRCCS Giannina Gaslini, Genoa, Italy)
Pisani, Isabella (University of Parma)
Allegri, Landino (University of Parma)
Sprangers, Ben (University Hospitals Leuven (Bèlgica))
Park, Jin-Ho (Seoul National University)
Cho, BeLong (Seoul National University College of Medicine)
Kim, Yon Su (Seoul National University College of Medicine)
Kim, Dong Ki (Seoul National University College of Medicine)
Suzuki, Hitoshi (Juntendo University)
Amoroso, Antonio (University of Torino)
Cattran, Daniel C. (University of Toronto)
Fervenza, Fernando C. (Mayo Clinic)
Pani, Antonello (G. Brotzu Hospital, Cagliari, Italy)
Hamilton, Patrick (Manchester University Hospitals NHS Trust)
Harris, Shelly (Manchester University Hospitals NHS Trust)
Gupta, Sanjana (University College London)
Cheshire, Chris (University College London)
Dufek, Stephanie (University College London)
Issler, Naomi (University College London)
Pepper, Ruth J. (University College London)
Connolly, John 1968- (University College London)
Powis, Stephen (University College London)
Bockenhauer, Detlef (University College London)
Stanescu, Horia C. (University College London)
Ashman, Neil (Royal London Hospital)
Loos, Ruth J. F. (Icahn School of Medicine at Mount Sinai)
Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai)
Wuttke, Matthias (University of Freiburg)
Eckardt, Kai-Uwe (Friedrich-Alexander-Universität)
Köttgen, Anna (University of Freiburg)
Hofstra, Julia M. (Radboud University Medical Center)
Coenen, Marieke J. H. (Radboud University Medical Centre)
Kiemeney, Lambertus A. (Radboud University Medical Center)
Akilesh, Shreeram (University of Washington)
Kretzler, Matthias (University of Michigan)
Beck, Lawrence H. (Boston University)
Stengel, Benedicte (University Paris-Sud)
Debiec, Hanna (Sorbonne Université)
Ronco, Pierre (Institut National de la Santé et de la Recherche Médicale)
Wetzels, Jack F. M. (Radboud University Medical Center)
Zoledziewska, Magdalena (Istituto di Ricerca Genetica e Biomedica)
Cucca, Francesco (Istituto di Ricerca Genetica e Biomedica)
Ionita-Laza, Iuliana (Columbia University)
Lee, Hajeong (Seoul National University College of Medicine)
Hoxha, Elion (University Medical Center Hamburg-Eppendorf)
Stahl, Rolf A. K. (University Medical Center Hamburg-Eppendorf)
Brenchley, Paul (University of Manchester)
Scolari, Francesco (University of Brescia)
Zhao, Ming-hui (Peking-Tsinghua Center for Life Sciences)
Gharavi, Ali G. (Columbia University)
Kleta, Robert (University College London)
Chen, Nan (Shanghai Jiao Tong University School of MedicinE)
Kiryluk, Krzysztof (Columbia University)
Universitat Autònoma de Barcelona

Data: 2020
Resum: Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1. 25, P = 3. 4 × 10 −12) and IRF4 (rs9405192, OR = 1. 29, P = 1. 4 × 10 −14), fine-map the PLA2R1 locus (rs17831251, OR = 2. 25, P = 4. 7 × 10 −103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3. 81, P = 2. 0 × 10 −49), DQA1*0501 in Europeans (OR = 2. 88, P = 5. 7 × 10 −93), and DRB1*0301 in both ethnicities (OR = 3. 50, P = 9. 2 × 10 −23 and OR = 3. 39, P = 5. 2 × 10 −82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk. Membranous nephropathy (MN) is a rare autoimmune disease of podocyte-directed antibodies, such as anti-phospholipase A2 receptor. Here, the authors report a genome-wide association study for MN and identify two previously unreported loci encompassing the NFKB1 and IRF4 genes and additional ancestry-specific effects.
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès
Document: Altres ; recerca ; Versió publicada
Matèria: Genome-wide association studies ; Autoimmunity ; Immunogenetics ; Membranous nephropathy
Publicat a: Nature communications, Vol. 11 (march 2020) , ISSN 2041-1723

DOI: 10.1038/s41467-020-15383-w
PMID: 32231244


18 p, 2.6 MB

El registre apareix a les col·leccions:
Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut d'Investigació Biomèdica Sant Pau
Articles > Articles de recerca
Articles > Articles publicats

 Registre creat el 2022-02-07, darrera modificació el 2023-01-03



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