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Review Article Open Access

Understanding APOL1 and its role in end-stage renal disease: A comprehensive knowledge-based approach

  • 1Ex-Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014 (UP), India
  • 2Shrimann-Super Specialty Hospital, NH44, Jalandhar Pathankot Road, Near Reru Chowk, Jalandhar -144012, (Punjab) India
+ Affiliations - Affiliations

Corresponding Author

Suraksha Agrawal, sur_ksha_agrawal@yahoo.co.in

Received Date: July 25, 2025

Accepted Date: August 25, 2025

Abstract

The Apolipoprotein L1 gene (APOL1) has two risk variants crucial for innate immunity against pathogens, such as Trypanosoma and HIV. Still, it is also linked to diseases like preterm birth, pre-eclampsia, cardiovascular diseases, and systemic lupus erythematosus, which are often worsened by environmental factors or infections called "second hits." Kidney disease appears in adolescents and young adults with risk alleles, increasing the risk of kidney failure. No current treatment exists for APOL1 nephropathy. These variants are absent in individuals of Indian descent despite a history of migrations. The review highlights the role of genetics and epigenetics in APOL1 research and screening, with a focus on the absence of risk alleles in the Indian population.

Keywords

APOL1, ESRD, Genetics, Epigenetics, G1 and G2 variants

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