Article
Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.
JAMA network open - 2 Mar 2026
Martinelli Elena, Ke Juntao, Khan Atlas, Wongboonsin Janewit, Vanderwall David R, Lim Tze Y, Santoriello Dominick, Gupta Yask, McNulty Michelle T, Koyama Satoshi, Puntambekar Sidhant, Bomback Andrew S, Canetta Pietro, Kretzler Matthias, Montini Giovanni, Morello William, Maggiore Umberto, Fiaccadori Enrico, Gesualdo Loreto, Ghiggeri Gian Marco, Oliveira Eduardo Araújo, Simoes E Silva Ana Cristina, Bendapudi Pavan K, Motelow Joshua, Garcia Christine K, Paul Dirk S, Petrovski Slavé, Goldstein David B, Friedman David J, Radhakrishnan Jai, Lin Fangming, Mohan Sumit, Appel Gerald B, Saleem Moin A, Natarajan Pradeep, Hildebrandt Friedhelm, Westland Rik, D'Agati Vivette D, Gbadegesin Rasheed, Gharavi Ali G, Pollak Martin R, Kiryluk Krzysztof, Sampson Matthew G, Sanna-Cherchi Simone
Abstract excerpt
Importance: The APOL1 M1 (p.N264K) variant protects against G2-associated APOL1 focal segmental glomerulosclerosis (FSGS) and chronic kidney disease (CKD). However, the utility of knowing an individual's M1 status in guiding kidney disease diagnosis and other clinical scenarios remains underexplored. Objective: To test 2 hypotheses: (1) in patients with APOL1 high-risk (HR) genotype kidney disease with at least 1...
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