The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael J.; Bodria, Monica; Zanoni, Francesca; Zhang, Jun Y.; Krithivasan, Priya; Mehl, Karla; Marasa, Maddalena; Khan, Atlas; Ozay, Fatih; Canetta, Pietro A.; Bomback, Andrew S.; Appel, Gerald B.; Sanna-Cherchi, Simone; Sampson, Matthew G.; Mariani, Laura H.; Perkowska-Ptasinska, Agnieszka; Durlik, Magdalena; Mucha, Krzysztof; Moszczuk, Barbara; Foroncewicz, Bartosz; Paczek, Leszek; Habura, Ireneusz; Ars, Elisabet; Ballarin, Jose; Mani, Laila-Yasmin; Vogt, Bruno; Ozturk, Savas; Yildiz, Abdulmecit; Seyahi, Nurhan; Arikan, Hakki; Koc, Mehmet; Basturk, Taner; Karahan, Gonca; Akgul, Sebahat Usta; Sever, Mehmet Sukru; Zhang, Dan; Santoro, Domenico; Bonomini, Mario; Londrino, Francesco; Gesualdo, Loreto; Reiterova, Jana; Tesar, Vladimir; Izzi, Claudia; Savoldi, Silvana; Spotti, Donatella; Marcantoni, Carmelita; Messa, Piergiorgio; Galliani, Marco; Roccatello, Dario; Granata, Simona; Zaza, Gianluigi; Lugani, Francesca; Ghiggeri, GianMarco; Pisani, Isabella; Allegri, Landino; Sprangers, Ben; Park, Jin-Ho; Cho, BeLong; Kim, Yon Su; Kim, Dong Ki; Suzuki, Hitoshi; Amoroso, Antonio; Cattran, Daniel C.; Fervenza, Fernando C.; Pani, Antonello; Hamilton, Patrick; Harris, Shelly; Gupta, Sanjana; Cheshire, Chris; Dufek, Stephanie; Issler, Naomi; Pepper, Ruth J.; Connolly, John; Powis, Stephen; Bockenhauer, Detlef; Stanescu, Horia C.; Ashman, Neil; Loos, Ruth J. F.; Kenny, Eimear E.; Wuttke, Matthias; Eckardt, Kai-Uwe; Koettgen, Anna; Hofstra, Julia M.; Coenen, Marieke J. H.; Kiemeney, Lambertus A.; Akilesh, Shreeram; Kretzler, Matthias; Beck, Lawrence H.; Stengel, Benedicte; Debiec, Hanna; Ronco, Pierre; Wetzels, Jack F. M.; Zoledziewska, Magdalena; Cucca, Francesco; Ionita-Laza, Iuliana; Lee, Hajeong; Hoxha, Elion; Stahl, Rolf A. K.; Brenchley, Paul; Scolari, Francesco; Zhao, Ming-hui; Gharavi, Ali G.; Kleta, Robert; Chen, Nan; Kiryluk, Krzysztof

doi:10.1038/s41467-020-15383-w

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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

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Authors: Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael J.; Bodria, Monica; Zanoni, Francesca; Zhang, Jun Y.; Krithivasan, Priya; Mehl, Karla; Marasa, Maddalena; Khan, Atlas; Ozay, Fatih; Canetta, Pietro A.; Bomback, Andrew S.; Appel, Gerald B.; Sanna-Cherchi, Simone; Sampson, Matthew G.; Mariani, Laura H.; Perkowska-Ptasinska, Agnieszka; Durlik, Magdalena; Mucha, Krzysztof; Moszczuk, Barbara; Foroncewicz, Bartosz; Paczek, Leszek; Habura, Ireneusz; Ars, Elisabet; Ballarin, Jose; Mani, Laila-Yasmin; Vogt, Bruno; Ozturk, Savas; Yildiz, Abdulmecit; Seyahi, Nurhan; Arikan, Hakki; Koc, Mehmet; Basturk, Taner; Karahan, Gonca; Akgul, Sebahat Usta; Sever, Mehmet Sukru; Zhang, Dan; Santoro, Domenico; Bonomini, Mario; Londrino, Francesco; Gesualdo, Loreto; Reiterova, Jana; Tesar, Vladimir; Izzi, Claudia; Savoldi, Silvana; Spotti, Donatella; Marcantoni, Carmelita; Messa, Piergiorgio; Galliani, Marco; Roccatello, Dario; Granata, Simona; Zaza, Gianluigi; Lugani, Francesca; Ghiggeri, GianMarco; Pisani, Isabella; Allegri, Landino; Sprangers, Ben; Park, Jin-Ho; Cho, BeLong; Kim, Yon Su; Kim, Dong Ki; Suzuki, Hitoshi; Amoroso, Antonio; Cattran, Daniel C.; Fervenza, Fernando C.; Pani, Antonello; Hamilton, Patrick; Harris, Shelly; Gupta, Sanjana; Cheshire, Chris; Dufek, Stephanie; Issler, Naomi; Pepper, Ruth J.; Connolly, John; Powis, Stephen; Bockenhauer, Detlef; Stanescu, Horia C.; Ashman, Neil; Loos, Ruth J. F.; Kenny, Eimear E.; Wuttke, Matthias; Eckardt, Kai-Uwe; Koettgen, Anna; Hofstra, Julia M.; Coenen, Marieke J. H.; Kiemeney, Lambertus A.; Akilesh, Shreeram; Kretzler, Matthias; Beck, Lawrence H.; Stengel, Benedicte; Debiec, Hanna; Ronco, Pierre; Wetzels, Jack F. M.; Zoledziewska, Magdalena; Cucca, Francesco; Ionita-Laza, Iuliana; Lee, Hajeong; Hoxha, Elion; Stahl, Rolf A. K.; Brenchley, Paul; Scolari, Francesco; Zhao, Ming-hui; Gharavi, Ali G.; Kleta, Robert; Chen, Nan; Kiryluk, Krzysztof

Issue Date: 2020-03

Publisher: Nature Publishing Group

Citation: Nature Communications, Vol.11 No.1, p. 1600

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 x 10(-12)) and IRF4 (rs9405192, OR = 1.29, P = 1.4 x 10(-14)), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 x 10(-103)) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 x 10(-49)), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 x 10(-93)), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 x 10(-23) and OR = 3.39, P = 5.2 x 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.