Precision Diagnosis in <i>APOL1</i> Kidney Disease With the p.N264K M1 Protective Variant
In this case-control study of 107 696 individuals, presence of an APOL1-HR genotype M1 was significantly associated with protection against kidney disease, suggesting that it may have a role as a genetic modifier. Patients with CKD with an APOL1-HR genotype and M1 should be evaluated for an alternative and potentially treatable cause of their CKD.
Authors
- Fangming Lin (ORCID: https://orcid.org/0000-0003-0858-5472)
- Janewit Wongboonsin (ORCID: https://orcid.org/0000-0002-0010-8228)
- David J. Friedman (ORCID: https://orcid.org/0000-0002-0301-9298)
- David Vanderwall (ORCID: https://orcid.org/0000-0002-0206-0053)
- Martin R. Pollak (ORCID: https://orcid.org/0000-0002-2396-9725)
- Rando Allikmets (ORCID: https://orcid.org/0000-0002-3344-4447)
- Dirk S. Paul (ORCID: https://orcid.org/0000-0002-8230-0116)
- David B. Goldstein (ORCID: https://orcid.org/0000-0002-1111-2820)
- Muredach P. Reilly (ORCID: https://orcid.org/0000-0002-3035-9386)
- Erin L. Heinzen (ORCID: https://orcid.org/0000-0002-7268-8559)
- Eduardo A. Oliveira (ORCID: https://orcid.org/0000-0002-5642-7164)
- Sumit Mohan (ORCID: https://orcid.org/0000-0002-5305-9685)
- Gian Marco Ghiggeri (ORCID: https://orcid.org/0000-0003-3659-9062)
- Christine Kim Garcia (ORCID: https://orcid.org/0000-0002-0771-1249)
- Sidhant Puntambekar
- A. S. Bomback
- Ana Cristina Simões e Silva (ORCID: https://orcid.org/0000-0001-9222-3882)
- Ronald J. Wapner (ORCID: https://orcid.org/0000-0003-0727-1244)
- R. H. Mayeux
- Dominick Santoriello (ORCID: https://orcid.org/0000-0001-5854-4236)
- Ansgar M. Brambrink (ORCID: https://orcid.org/0000-0003-1299-9432)
- G Appel
- Michelle T. McNulty (ORCID: https://orcid.org/0000-0002-2080-0940)
- Ali G. Gharavi (ORCID: https://orcid.org/0000-0003-2801-233X)
- Slavé Petrovski (ORCID: https://orcid.org/0000-0002-1527-961X)
- Ali S. Khan
- Vivette Denise D’Agati (ORCID: https://orcid.org/0000-0001-7760-6965)
- Juntao Ke
- Satoshi Koyama
- P Natarajan
- Rasheed Gbadegesin
- Loreto Gesualdo
- Joshua Motelow
- Krzysztof Kiryluk
- Jai Radhakrishnan
- Rik Westland
- Elena Martinelli
- Friedhelm Hildebrandt
- Umberto Maggiore
- Enrico Fiaccadori
- Pietro Canetta
- Matthias Kretzler
- Giovanni Montini
- William Morello
- Simone Sanna-Cherchi
- Yask Gupta
- Neil Shneider
- Matthew Harms
- H. Blair Simpson
- Simone Sanna-Cherchi
- Krzysztof Kiryluk
- Pavan K. Bendapudi
- Moin A. Saleem
- Matthew G. Sampson
- Tze Y. Lim
Institutions
- AstraZeneca (United Kingdom) (GB)
- Broad Institute (US)
- Universidade Federal de Minas Gerais (BR)
- University of Parma (IT)
- Brigham and Women's Hospital (US)
- Boston Children's Hospital (US)
- Beth Israel Deaconess Medical Center (US)
- Siriraj Hospital (TH)
- Harvard University (US)
- Duke University (US)
- Mahidol University (TH)
- University of Michigan (US)
- Bumrungrad International Hospital (TH)
- Columbia University Irving Medical Center (US)
- Istituto Giannina Gaslini (IT)
- Bristol Royal Hospital for Children (GB)
- Structural Genomics Consortium (CA)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Massachusetts General Hospital (US)
- Emma Kinderziekenhuis (NL)
- Electronic BioSciences (United States) (US)
- National Blood Transfusion Service (NG)
- Precision for Medicine (United States) (US)
- Boston Children's Museum (US)
- University of Turin (IT)
- University of Bari Aldo Moro (IT)
- Columbia University (US)
- University of Lübeck (DE)
Publication Details
- Journal
- JAMA Network Open
- Published
- 2026-03-11
- DOI
- https://doi.org/10.1001/jamanetworkopen.2026.1452
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- U.S. Department of Defense
- AstraZeneca
- Biogen
- Nephcure Foundation
- Alport Syndrome Foundation
- Rare Diseases Clinical Research Network
- Nierstichting
- National Institutes of Health
- NIH Office of the Director
- National Institute of Diabetes and Digestive and Kidney Diseases
- U.S. National Library of Medicine
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development