dc.contributor.author |
Xie, Jingyuan |
dc.contributor.author |
Liu, Lili |
dc.contributor.author |
Mladkova, Nikol |
dc.contributor.author |
Li, Yifu |
dc.contributor.author |
Ren, Hong |
dc.contributor.author |
Wang, Weiming |
dc.contributor.author |
Cui, Zhao |
dc.contributor.author |
Lin, Li |
dc.contributor.author |
Hu, Xiaofan |
dc.contributor.author |
Yu, Xialian |
dc.contributor.author |
Xu, Jing |
dc.contributor.author |
Liu, Gang |
dc.contributor.author |
Caliskan, Yasar |
dc.contributor.author |
Sidore, Carlo |
dc.contributor.author |
Balderes, Olivia |
dc.contributor.author |
Rosen, Raphael J. |
dc.contributor.author |
Bodria, Monica |
dc.contributor.author |
Zanoni, Francesca |
dc.contributor.author |
Zhang, Jun Y. |
dc.contributor.author |
Krithivasan, Priya |
dc.contributor.author |
Mehl, Karla |
dc.contributor.author |
Marasa, Maddalena |
dc.contributor.author |
Khan, Atlas |
dc.contributor.author |
Ozay, Fatih |
dc.contributor.author |
Canetta, Pietro A. |
dc.contributor.author |
Bomback, Andrew S. |
dc.contributor.author |
Appel, Gerald B. |
dc.contributor.author |
Sanna-Cherchi, Simone |
dc.contributor.author |
Sampson, Matthew G. |
dc.contributor.author |
Mariani, Laura H. |
dc.contributor.author |
Perkowska-Ptasinska, Agnieszka |
dc.contributor.author |
Durlik, Magdalena |
dc.contributor.author |
Mucha, Krzysztof |
dc.contributor.author |
Moszczuk, Barbara |
dc.contributor.author |
Foroncewicz, Bartosz |
dc.contributor.author |
Pączek, Leszek |
dc.contributor.author |
Habura, Ireneusz |
dc.contributor.author |
Ars, Elisabet |
dc.contributor.author |
Ballarín Castan, José Aurelio |
dc.contributor.author |
Mani, Laila-Yasmin |
dc.contributor.author |
Vogt, Bruno |
dc.contributor.author |
Ozturk, Savas |
dc.contributor.author |
Yildiz, Abdülmecit |
dc.contributor.author |
Arikan, Hakki |
dc.contributor.author |
Koc, Mehmet |
dc.contributor.author |
Basturk, Taner |
dc.contributor.author |
Karahan, Gonca |
dc.contributor.author |
Akgul, Sebahat Usta |
dc.contributor.author |
Sever, Mehmet Sukru |
dc.contributor.author |
Zhang, Dan |
dc.contributor.author |
Santoro, Domenico |
dc.contributor.author |
Bonomini, Mario |
dc.contributor.author |
Londrino, Francesco |
dc.contributor.author |
Gesualdo, Loreto |
dc.contributor.author |
Reiterova, Jana |
dc.contributor.author |
Tesar, Vladimir |
dc.contributor.author |
Izzi, Claudia |
dc.contributor.author |
Savoldi, Silvana |
dc.contributor.author |
Spotti, Donatella |
dc.contributor.author |
Marcantoni, Carmelita |
dc.contributor.author |
Messa, Piergiorgio |
dc.contributor.author |
Galliani, Marco |
dc.contributor.author |
Roccatello, Dario |
dc.contributor.author |
Granata, Simona |
dc.contributor.author |
Zaza, Gianluigi |
dc.contributor.author |
Lugani, Francesca |
dc.contributor.author |
Ghiggeri, GianMarco |
dc.contributor.author |
Pisani, Isabella |
dc.contributor.author |
Allegri, Landino |
dc.contributor.author |
Sprangers, Ben |
dc.contributor.author |
Park, Jin-Ho |
dc.contributor.author |
Cho, BeLong |
dc.contributor.author |
Kim, Yon Su |
dc.contributor.author |
Kim, Dong Ki |
dc.contributor.author |
Suzuki, Hitoshi |
dc.contributor.author |
Amoroso, Antonio |
dc.contributor.author |
Cattran, Daniel C. |
dc.contributor.author |
Fervenza, Fernando C. |
dc.contributor.author |
Pani, Antonello |
dc.contributor.author |
Hamilton, Patrick |
dc.contributor.author |
Harris, Shelly |
dc.contributor.author |
Gupta, Sanjana |
dc.contributor.author |
Cheshire, Chris |
dc.contributor.author |
Dufek, Stephanie |
dc.contributor.author |
Issler, Naomi |
dc.contributor.author |
Pepper, Ruth J. |
dc.contributor.author |
Connolly, John |
dc.contributor.author |
Powis, Stephen |
dc.contributor.author |
Bockenhauer, Detlef |
dc.contributor.author |
Stanescu, Horia C. |
dc.contributor.author |
Ashman, Neil |
dc.contributor.author |
Loos, Ruth J. F. |
dc.contributor.author |
Kenny, Eimear E. |
dc.contributor.author |
Wuttke, Matthias |
dc.contributor.author |
Eckardt, Kai-Uwe |
dc.contributor.author |
Köttgen, Anna |
dc.contributor.author |
Hofstra, Julia M. |
dc.contributor.author |
Coenen, Marieke J. H. |
dc.contributor.author |
Kiemeney, Lambertus A. |
dc.contributor.author |
Akilesh, Shreeram |
dc.contributor.author |
Kretzler, Matthias |
dc.contributor.author |
Beck, Lawrence H. |
dc.contributor.author |
Stengel, Benedicte |
dc.contributor.author |
Debiec, Hanna |
dc.contributor.author |
Ronco, Pierre |
dc.contributor.author |
Wetzels, Jack F. M. |
dc.contributor.author |
Zoledziewska, Magdalena |
dc.contributor.author |
Cucca, Francesco |
dc.contributor.author |
Ionita-Laza, Iuliana |
dc.contributor.author |
Lee, Hajeong |
dc.contributor.author |
Hoxha, Elion |
dc.contributor.author |
Stahl, Rolf A. K. |
dc.contributor.author |
Brenchley, Paul |
dc.contributor.author |
Scolari, Francesco |
dc.contributor.author |
Zhao, Ming-hui |
dc.contributor.author |
Gharavi, Ali G. |
dc.contributor.author |
Kleta, Robert |
dc.contributor.author |
Chen, Nan |
dc.contributor.author |
Kiryluk, Krzysztof |
dc.contributor.author |
Universitat Autònoma de Barcelona |
dc.date |
2020 |
dc.identifier |
https://ddd.uab.cat/record/252523 |
dc.identifier |
urn:10.1038/s41467-020-15383-w |
dc.identifier |
urn:oai:ddd.uab.cat:252523 |
dc.identifier |
urn:pmcid:PMC7105485 |
dc.identifier |
urn:pmc-uid:7105485 |
dc.identifier |
urn:pmid:32231244 |
dc.identifier |
urn:oai:pubmedcentral.nih.gov:7105485 |
dc.format |
application/pdf |
dc.language |
eng |
dc.publisher |
|
dc.relation |
Nature communications ; Vol. 11 (march 2020) |
dc.rights |
open access |
dc.rights |
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. |
dc.rights |
https://creativecommons.org/licenses/by/4.0/ |
dc.subject |
Genome-wide association studies |
dc.subject |
Autoimmunity |
dc.subject |
Immunogenetics |
dc.subject |
Membranous nephropathy |
dc.title |
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis |
dc.type |
Altres |
dc.description.abstract |
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. |