2 results on '"Akgul, Sebahat Usta"'
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2. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
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Taner Basturk, Ali G. Gharavi, Patrick Hamilton, Nan Chen, Kai-Uwe Eckardt, Weiming Wang, Paul Brenchley, Olivia Balderes, Dong Ki Kim, Elisabet Ars, Antonio Amoroso, Mehmet Sukru Sever, Neil Ashman, Bartosz Foroncewicz, Dan Zhang, Maddalena Marasa, Francesca Lugani, Elion Hoxha, Mario Bonomini, Gang Liu, Detlef Bockenhauer, Hakki Arikan, Pietro A. Canetta, Bruno Vogt, Magdalena Durlik, Carlo Sidore, Abdulmecit Yildiz, Mehmet Koc, Magdalena Zoledziewska, Simone Sanna-Cherchi, Antonello Pani, Domenico Santoro, Francesca Zanoni, Landino Allegri, Matthias Kretzler, Ireneusz Habura, Claudia Izzi, Naomi Issler, Carmelita Marcantoni, Isabella Pisani, Monica Bodria, Hajeong Lee, Krzysztof Mucha, Ruth J. F. Loos, Lawrence H. Beck, Laura H. Mariani, Rolf A.K. Stahl, Eimear E. Kenny, Gonca E. Karahan, Pierre Ronco, Robert Kleta, Francesco Scolari, José Ballarín, Francesco Londrino, Bénédicte Stengel, Dario Roccatello, Atlas Khan, Belong Cho, Gerald B. Appel, Lili Liu, Xiaofan Hu, Savas Ozturk, Karla Mehl, Ming hui Zhao, Ruth J. Pepper, Shreeram Akilesh, Zhao Cui, Yifu Li, Anna Köttgen, Lambertus A. Kiemeney, Fatih Ozay, Jack F.M. Wetzels, Stephen H. Powis, Jun Zhang, Silvana Savoldi, Hong Ren, Matthias Wuttke, John O. Connolly, Yon Su Kim, Gianluigi Zaza, Chris Cheshire, Simona Granata, Andrew S. Bomback, Nurhan Seyahi, Donatella Spotti, Vladimir Tesar, Stephanie Dufek, Fernando C. Fervenza, Krzysztof Kiryluk, Barbara Moszczuk, Leszek Pączek, Agnieszka Perkowska-Ptasińska, Nikol Mladkova, Shelly Harris, Loreto Gesualdo, Hitoshi Suzuki, Jin Ho Park, Jana Reiterova, Julia M. Hofstra, Francesco Cucca, Li Lin, Laila Yasmin Mani, Sanjana Gupta, Ben Sprangers, Iuliana Ionita-Laza, Daniel C. Cattran, Gian Marco Ghiggeri, Sebahat Akgul, Horia Stanescu, Matthew G. Sampson, Piergiorgio Messa, Xialian Yu, Marieke J H Coenen, Hanna Debiec, Jingyuan Xie, Jing Xu, Yasar Caliskan, Raphael J. Rosen, Priya Krithivasan, Marco Galliani, 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, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri., Yıldız, Abdülmecit, and GJU-0662-2022
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diagnosis ,Phospholipase A2 receptor ,Genome-wide association study ,Gene ,Glomerulonephritis, Membranous ,DISEASE ,membranous nephropahty ,PLA2R1 protein, human ,0302 clinical medicine ,Models ,Phospholipase A2 ,Ethnicity ,GWAS ,genetics ,Membranous Nephropathy ,lcsh:Science ,Diagnostic test accuracy study ,RISK ALLELES ,NFKB1 protein, human ,3. Good health ,HLA ,Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] ,Cohort analysis ,Testing method ,Human ,medicine.medical_specialty ,Science ,Immunology ,European Continental Ancestry Group ,Case control study ,Single-nucleotide polymorphism ,Locus (genetics) ,Major clinical study ,Human leukocyte antigen ,European ,Article ,General Biochemistry, Genetics and Molecular Biology ,White People ,03 medical and health sciences ,Membranous nephropathy ,Asian People ,Humans ,Amino Acid Sequence ,Polymorphism ,GENOME-WIDE ASSOCIATION ,Antibody ,Alleles ,METAANALYSIS ,Ancestry ,Autoimmune disease ,Receptors, Phospholipase A2 ,Case-control study ,Molecular ,medicine.disease ,030104 developmental biology ,Immunoglobulin enhancer binding protein ,Case-Control Studies ,lcsh:Q ,Renal disorders Radboud Institute for Health Sciences [Radboudumc 11] ,MHC ,0301 basic medicine ,Models, Molecular ,Enzyme linked immunosorbent assay ,PLA2R1 gene ,genetics, membranous nephropahty, GWAS, HLA ,NF-KAPPA-B ,030232 urology & nephrology ,General Physics and Astronomy ,Gene locus ,ACTIVATION ,Glomerulonephritis ,Receptors ,Membranous Nephropathy, genome-wide association study (GWAS), diagnosis ,Interferon regulatory factor 4 ,East Asian ,Allele ,Multidisciplinary ,Genetic analysis ,Membrane ,Single Nucleotide ,Sensitivity and specificity ,Interferon regulatory factor ,Interferon Regulatory Factors ,Asian Continental Ancestry Group ,EXPRESSION ,Detection method ,HLA antigen ,SUSCEPTIBILITY LOCI ,610 Medicine & health ,Caucasian ,Membranous ,Polymorphism, Single Nucleotide ,Multidisciplinary sciences ,Molecular model ,Non invasive measurement ,Internal medicine ,NF-kappa B p50 Subunit ,Genome-Wide Association Study ,medicine ,Human tissue ,Membranous glomerulonephritis ,Genetic risk ,Multifactorial Inheritance ,Summary Statistic ,Single Nucleotide Polymorphism ,RECEPTOR ,business.industry ,General Chemistry ,genome-wide association study (GWAS) ,Single nucleotide polymorphism ,Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5] ,business ,Controlled study ,Meta analysis - Abstract
Vogt, Bruno/0000-0002-1548-6387; Dufek, Stephanie/0000-0002-6323-6673; Liu, Lili/0000-0002-2622-9669; Paczek, Leszek/0000-0003-0160-3009; Cui, Zhao/0000-0002-5837-1926; amoroso, antonio/0000-0002-9437-9407; Rosen, Raphael/0000-0003-1025-1965; Loos, Ruth/0000-0002-8532-5087; coenen, marieke/0000-0001-8796-2031; zanoni, francesca/0000-0001-9567-6713; CUCCA, Francesco/0000-0002-7414-1995; Ars, Elisabet/0000-0002-4118-4358; Hamilton, Patrick/0000-0001-6703-3745 WOS:000563559600001 PubMed ID: 32231244 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. National Institute for Diabetes and Digestive Kidney Diseases (NIDDK) [RC2-DK116690, R01-DK105124, R01-DK097053, R01-DK108805]; National Institute on Minority Health and Health Disparities (NIMHD)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Minority Health & Health Disparities (NIMHD) [R01-MD009223]; Charles Woodson Clinical Research Fund; Nephrotic Syndrome Study Network Consortium (NEPTUNE) [U54-DK-083912]; Columbia University, Columbia Glomerular Center; Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS); National Institute of Diabetes, Digestive, and Kidney Diseases (NIDDK)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK); University of MichiganUniversity of Michigan System; NephCure Kidney International; Halpin Foundation; National Key Research and Development Program of China [2016YFC0904100]; Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81621092]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81870460, 81570598]; Science and Technology Innovation Action Plan of Shanghai Science and Technology Committee [17441902200]; Shanghai Municipal Education Commission, Gaofeng, Clinical Medicine Grant [20152207]; Shanghai Jiao Tong University School of Medicine, Multi-Center Clinical Research Project [DLY201510]; International Cooperation and Exchange Projects of Shanghai Science and Technology Committee [14430721000]; Outstanding Young Scholar Award [81622009]; Shanghai Health and Family Planning Committee Hundred Talents Program [2018BR37]; Seoul National University Hospital Human Biobank, a member of the National Biobank of Korea - Ministry of Health and Welfare, Republic of Korea; MRCMedical Research Council UK (MRC) [MR/J010847/1]; Manchester Academic Health Science Centre [MAHSC 186/200]; Greater Manchester Local Clinical Research Network; Kidneys for Life Charity; David and Elaine Potter Charitable Foundation; St Peter's Trust for Kidney, Bladder and Prostate Research; Kids Kidney Research UKKidney Research UK (KRUK); Kidney Research UKKidney Research UK (KRUK); Italian Ministry of Health grantMinistry of Health, Italy [GR-2011-02350438]; Department of Excellence Grant 2018-2022 - Italian Ministry of Education for the Department of Medical Sciences of the University of Turin; Columbia University; Poznan University of Medical Sciences, Poland; German Ministry of Education and Research (BMBF)Federal Ministry of Education & Research (BMBF) [01ER0804]; KfH Foundation for Preventive Medicine; Bayer Pharma AG; German Research FoundationGerman Research Foundation (DFG) [CRC 1140, KO 3598/3-1, CRC 992]; European Research CouncilEuropean Research Council (ERC) [ERC-2012ADG_2012-0314, 322947]; 7th Framework Programme of the European Community contract [2012-305608]; National Research Agency grant MNaims [ANR-17-CE17-0012-01]; Dutch Kidney Foundation [OW08, KJPB11.021]; National Human Genome Research Institute (NHGRI)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI); NIMHD We are grateful to all study participants across multiple nephrology centres worldwide for their contributions to this work. This work was supported by the following institutions, grants and funding agencies in the US: Columbia University, Columbia Glomerular Center, National Institute for Diabetes and Digestive Kidney Diseases (NIDDK) grants RC2-DK116690 (K.K., M.K.), R01-DK105124 (K.K.), R01-DK097053 (L.H.B., M.K.), R01-DK108805 (M.G.S.), and National Institute on Minority Health and Health Disparities (NIMHD) grant R01-MD009223 (K.K., A.G.G., A.B.). M.G.S. is additionally supported by the Charles Woodson Clinical Research Fund. The Nephrotic Syndrome Study Network Consortium (NEPTUNE), U54-DK-083912, is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through a collaboration between the Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS) and the National Institute of Diabetes, Digestive, and Kidney Diseases (NIDDK). Additional funding and/or programmatic support for this project has also been provided by the University of Michigan, the NephCure Kidney International and the Halpin Foundation. The recruitment and analysis of the Chinese cohorts were supported by the National Key Research and Development Program of China (2016YFC0904100), Natural Science Foundation of China to the Innovation Research Group (81621092), National Natural Science Foundation of China (No. 81870460, 81570598), Science and Technology Innovation Action Plan of Shanghai Science and Technology Committee (No.17441902200), Shanghai Municipal Education Commission, Gaofeng, Clinical Medicine Grant (No.20152207), Shanghai Jiao Tong University School of Medicine, Multi-Center Clinical Research Project (No.DLY201510), International Cooperation and Exchange Projects of Shanghai Science and Technology Committee (No.14430721000), the Outstanding Young Scholar Award for Zhao Cui (No.81622009), and Shanghai Health and Family Planning Committee Hundred Talents Program for Jingyuan Xie (No.2018BR37). The recruitment of the Korean cohort was supported by the Seoul National University Hospital Human Biobank, a member of the National Biobank of Korea, financed by the Ministry of Health and Welfare, Republic of Korea. P.B. and P.H. acknowledge financial support from MRC project "Autoimmunity in Membranous Nephropathy", grant MR/J010847/1 which funded the sample collection from MN patients across the UK. P.B., P.H. and S.H. acknowledge support from Manchester Academic Health Science Centre (MAHSC 186/200), the Greater Manchester Local Clinical Research Network and Kidneys for Life Charity for supporting research in MN in Manchester. We are grateful to the MENTOR study (clinical trials no. NCT01180036), for contributing blood samples of trial participants. The UK cohort was supported in part by grants from the David and Elaine Potter Charitable Foundation (to S.H.P. and R.K.), St Peter's Trust for Kidney, Bladder and Prostate Research (to D.B., H.C.S., S.H.P. and R.K.), Kids Kidney Research UK and Kidney Research UK (to D.B. and R.K.). The Italian cohorts were supported by the Italian Ministry of Health grant GR-2011-02350438 (G.Z., S.G.) and the Department of Excellence Grant 2018-2022 funded by the Italian Ministry of Education for the Department of Medical Sciences of the University of Turin (A.A.).; The recruitment of Polish cases was sponsored by the Polish Kidney Genetics Network (POLYGENES), a collaborative effort between Columbia University and Poznan University of Medical Sciences, Poland. The full list of POLYGENES collaborators can be found in the Supplementary Materials. The GCKD (German Chronic Kidney Disease) study was funded by grants from the German Ministry of Education and Research (BMBF, No. 01ER0804) and the KfH Foundation for Preventive Medicine, with genotyping supported by Bayer Pharma AG. The list of GCKD investigators can be found in the Supplementary Materials. The work of M.W. and A.K. was funded by the CRC 1140 Initiative and by KO 3598/3-1 and CRC 992 (A.K.) of the German Research Foundation. The work of E.H. and R.A.K.S. was funded by the CRC 1192 from the German Research Foundation (Projects B1 and C1). P.R. is a recipient of European Research Council ERC-2012ADG_2012-0314 grant 322947, 7th Framework Programme of the European Community contract 2012-305608 (European Consortium for High-Throughput Research in Rare Kidney Diseases), and the National Research Agency grant MNaims (ANR-17-CE17-0012-01). The Dutch studies were supported by grants from the Dutch Kidney Foundation to JMH and JFW (Nierstichting Nederland grant OW08 and grant KJPB11.021). We would like to thank the Population Architecture Using Genomics and Epidemiology (PAGE) consortium, funded by the National Human Genome Research Institute (NHGRI) with co-funding from the NIMHD, for providing population controls for this study. For full acknowledgment of the PAGE consortium, please see Supplementary Materials. The funding sources were not involved in the study design, collection, analysis, and interpretation of data, writing of the report, or in the decision to submit the paper for publication.
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- 2020
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