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CR1 variants contribute to FSGS susceptibility across multiple populations

  1. Author:
    Skitchenko, Rostislav
    Modrusan, Zora
    Loboda, Alexander
    Kopp, Jeffrey B
    Winkler,Cheryl
    Sergushichev, Alexey
    Gupta, Namrata
    Stevens, Christine
    Daly, Mark J
    Shaw, Andrey
    Artomov, Mykyta

  2. Author Address

    ITMO University, St. Petersburg, Russia., Almazov National Medical Research Centre, St. Petersburg, Russia., Research Biology, Genentech Inc., San Francisco, CA, USA., Broad Institute, Cambridge, MA, USA., Kidney Disease Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA., Molecular Genetic Epidemiology Studies Section, National Cancer Institute (NCI), Frederick, MD, USA., Massachusetts General Hospital, Boston, MA, USA., Institute for Molecular Medicine Finland, Helsinki, Finland., Institute for Genomic Medicine, Nationwide Children 39;s Hospital, Columbus, OH, USA., Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.,
    1. Year: 2025
    2. Date: Apr 18
    3. Epub Date: 2025 03 18
  2. Journal: iScience
    1. 28
    2. 4
    3. Pages: 112234
  4. Type of Article: Article
  5. Article Number: 112234
  1. Abstract:

    Focal segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome, with an annual incidence of 24 cases per million among African-Americans and 5 per million among European-Americans in the United States. It ranks as the second most common glomerular disease in Europe and Latin America and the fifth in Asia. We conducted a case-control study involving 726 FSGS cases and 13,994 controls from diverse ethnic backgrounds, using panel sequencing of ~2,500 podocyte-expressed genes. Rare variant association tests confirmed known risk genes (KANK1, COLAPOL1) and identified a significant association with the CR1 gene. The CR1 variant rs17047661, which encodes the Sl1/Sl2 (R1601G) allele, was previously linked to cerebral malaria protection and is now identified as a risk variant for FSGS. This highlights an evolutionary trade-off between infectious disease resistance and kidney disease susceptibility, emphasizing the role of adaptive immunity in FSGS pathogenesis and potential therapeutic targets. © 2025 The Author(s).

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External Sources

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  2. DOI: 10.1016/j.isci.2025.112234
  3. PMID: 40241753
  4. PMCID: PMC12003020
  5. PII : S2589-0042(25)00495-X

Library Notes

  1. Fiscal Year: FY2024-2025
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