Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
作者:
Yask,Gupta [1]
;
David J,Friedman [2]
;
Michelle T,McNulty [3]
;
Atlas,Khan [4]
;
Brandon,Lane [5]
;
Chen,Wang [4]
;
Juntao,Ke [4]
;
Gina,Jin [4]
;
Benjamin,Wooden [4]
;
Andrea L,Knob [2]
;
Tze Y,Lim [6]
;
Gerald B,Appel [4]
;
Kinsie,Huggins [5]
;
Lili,Liu [4]
;
Adele,Mitrotti [7]
;
Megan C,Stangl [5]
;
Andrew,Bomback [4]
;
Rik,Westland [8]
;
Monica,Bodria [9]
;
Maddalena,Marasa [4]
;
Ning,Shang [4]
;
David J,Cohen [4]
;
Russell J,Crew [4]
;
William,Morello [10]
;
Pietro,Canetta [4]
;
Jai,Radhakrishnan [4]
;
Jeremiah,Martino [4]
;
Qingxue,Liu [4]
;
Wendy K,Chung [11]
;
Angelica,Espinoza [12]
;
Yuan,Luo [12]
;
Wei-Qi,Wei [13]
;
Qiping,Feng [13]
;
Chunhua,Weng [14]
;
Yilu,Fang [14]
;
Iftikhar J,Kullo [15]
;
Mohammadreza,Naderian [15]
;
Nita,Limdi [16]
;
Marguerite R,Irvin [17]
;
Hemant,Tiwari [18]
;
Sumit,Mohan [19]
;
Maya,Rao [4]
;
Geoffrey K,Dube [4]
;
Ninad S,Chaudhary [17]
;
Orlando M,Gutiérrez [20]
;
Suzanne E,Judd [18]
;
Mary,Cushman [21]
;
Leslie A,Lange [22]
;
Ethan M,Lange [22]
;
Daniel L,Bivona [4]
;
Miguel,Verbitsky [4]
;
Cheryl A,Winkler [23]
;
Jeffrey B,Kopp [24]
;
Dominick,Santoriello [25]
;
Ibrahim,Batal [25]
;
Sérgio Veloso Brant,Pinheiro [26]
;
Eduardo Araújo,Oliveira [26]
;
Ana Cristina,Simoes E Silva [26]
;
Isabella,Pisani [27]
;
Enrico,Fiaccadori [27]
;
Fangming,Lin [28]
;
Loreto,Gesualdo [7]
;
Antonio,Amoroso [29]
;
Gian Marco,Ghiggeri [9]
;
Vivette D,D'Agati [25]
;
Riccardo,Magistroni [30]
;
Eimear E,Kenny [31]
;
Ruth J F,Loos [32]
;
Giovanni,Montini [33]
;
Friedhelm,Hildebrandt [34]
;
Dirk S,Paul [35]
;
Slavé,Petrovski [35]
;
David B,Goldstein [36]
;
Matthias,Kretzler [37]
;
Rasheed,Gbadegesin [5]
;
Ali G,Gharavi [4]
;
Krzysztof,Kiryluk [4]
;
Matthew G,Sampson [38]
;
Martin R,Pollak [2]
;
Simone,Sanna-Cherchi [39]
作者单位:
Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.;Institute for Inflammation Medicine, University of Lubeck, Lübeck, Germany.
[1]
Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.;Harvard Medical School, Boston, MA, USA.
[2]
Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA.;Kidney Disease Initiative and Medical and Population Genetics Program, Broad Institute, Boston, MA, USA.
[3]
Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
[4]
Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
[5]
Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.;Unit of Genomic Variability and Complex Diseases, Department of Medical Sciences, University of Turin, Turin, Italy.
[6]
Department of Precision and Regenerative Medicine and Ionian Area (DiMePre-J) Nephrology, Dialysis and Transplantation Unit, University of Bari Aldo Moro, Bari, Italy.
[7]
Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
[8]
Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.;Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
[9]
Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.
[10]
Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY, USA.
[11]
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
[12]
Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
[13]
Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA.
[14]
Atherosclerosis and Lipid Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
[15]
Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
[16]
Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
[17]
Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
[18]
Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.;Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
[19]
Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.;Division of Nephrology, Department of Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
[20]
Department of Medicine and Pathology and Laboratory Medicine, University of Vermont, Burlington, VT, USA.
[21]
Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
[22]
Cancer Innovation Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health and Basic Research Program, Frederick National Laboratory, Frederick, MD, USA.
[23]
Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
[24]
Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
[25]
Universidade Federal de Minas Gerais (UFMG), Faculdade de Medicina, Laboratório Interdisciplinar de Investigação Médica, Departamento de Pediatria, Unidade de Nefrologia Pediátrica, Belo Horizonte, MG, Brazil.
[26]
Nephrology Unit, Parma University Hospital, and Department of Medicine and Surgery, University of Parma, Parma, Italy.
[27]
Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, NY, USA.
[28]
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino", Department of Medical Sciences, University of Turin, Turin, Italy.
[29]
Surgical, Medical and Dental Department of Morphological Sciences, Section of Nephrology, University of Modena and Reggio Emilia, Modena, Italy.
[30]
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.;Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.;Center for Translational Genomics, Icahn School of Medicine, New York, NY, 10027, USA.;Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine, New York, NY, 10027, USA.
[31]
The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.;Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.
[32]
Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.;Department of Clinical Sciences and Community Health, Giuliana and Bernardo Caprotti Chair of Pediatrics, University of Milano, Milano, Italy.
[33]
Harvard Medical School, Boston, MA, USA.;Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA.
[34]
Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
[35]
Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
[36]
Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, MI, USA.
[37]
Harvard Medical School, Boston, MA, USA.;Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA.;Kidney Disease Initiative and Medical and Population Genetics Program, Broad Institute, Boston, MA, USA.
[38]
Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA. ss2517@cumc.columbia.edu.
[39]
主题词
人类(Humans);肾小球硬化症, 局灶节段性(Glomerulosclerosis, Focal Segmental);疾病遗传易感性(Genetic Predisposition to Disease);危险因素(Risk Factors);基因型(Genotype);载脂蛋白类(Apolipoproteins)
DOI
10.1038/s41467-023-43020-9
PMID
38036523
发布时间
2025-01-04
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