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The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia-Associated Kidney Function.

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APOL1 risk variants accelerate kidney function decline in sickle cell anemia (SCA) patients after age 10. Early genetic risk assessment and kidney monitoring are crucial for managing SCA-related kidney disease.

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Area of Science:

  • Nephrology
  • Genetics
  • Hematology

Background:

  • Sickle cell anemia (SCA) is a leading cause of kidney disease, morbidity, and mortality.
  • APOL1 G1/G2 risk variants are associated with kidney disease in individuals of African ancestry.
  • Longitudinal effects of APOL1 variants in pediatric and young adult SCA patients are understudied.

Purpose of the Study:

  • To investigate the association between APOL1 risk variants and kidney function trajectory in young individuals with SCA.
  • To determine if APOL1 variants influence the rate of estimated glomerular filtration rate (eGFR) decline over time.
  • To identify early indicators of accelerated kidney injury in SCA patients.

Main Methods:

  • Analysis of 494 individuals (ages 1-25) from the Sickle Cell Clinical Research and Intervention Program (SCCRIP) cohort.
  • Longitudinal assessment of kidney function, including eGFR and hyperfiltration.
  • Statistical modeling to evaluate the association of APOL1 G1/G2 alleles with kidney function parameters before and after age 10.

Main Results:

  • Before age 10, APOL1 G1/G2 alleles showed no significant association with CKD, hyperfiltration, or eGFR.
  • After age 10, APOL1 G1/G2 variants were linked to higher baseline eGFR, a steeper eGFR decline, and increased odds of accelerated eGFR loss.
  • Individuals with hyperfiltration before age 10 or APOL1 risk alleles had a significantly higher risk of accelerated eGFR decline.

Conclusions:

  • APOL1 risk variants significantly impact kidney function decline in SCA patients, particularly after age 10.
  • Early identification of APOL1 risk alleles and renal surveillance can help predict and manage progressive kidney injury in SCA.
  • Genetic risk stratification may improve outcomes for SCA patients at risk of chronic kidney disease.