Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.

doi:10.1016/j.kint.2025.12.013

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Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.

Kidney international - 1 Apr 2026

Wongboonsin Janewit, Gibson Kristen M, Ke Juntao, Sentell Zachary T, Arcila-Galvis Juliana E, Koyama Satoshi, Greenberg Anya, Reynolds Kaylia M, Montini Giovanni, Magistroni Riccardo, Mitrotti Adele, Gesualdo Loreto, Pezzuto Alessandro, Peruzzi Licia, Caliskan Yasar, Onuchic-Whitford Ana C, Bunlungsup Srichan, McNulty Michelle, Gbadegesin Rasheed, Saleem Moin A, Pollak Martin R, Hildebrandt Friedhelm, Natarajan Pradeep, Lee Dongwon, Nigwekar Sagar U, Sayer John A, Sanna-Cherchi Simone, Sampson Matthew G

Abstract excerpt

INTRODUCTION: Health system-based biobanks with genetic data provide a unique opportunity for nephrotic syndrome (NS) genomic discovery. This is predicated on finding cases in the electronic health record. METHODS: We tested three strategies to identify focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD) cases in the 130,000 members of Mass General Brigham Biobank (MGBB). We analyzed a...

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PMID: 41453490
DOI: 10.1016/j.kint.2025.12.013
PMCID: PMC13100938

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APOL1
MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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