ASN's Mission

To create a world without kidney diseases, the ASN Alliance for Kidney Health elevates care by educating and informing, driving breakthroughs and innovation, and advocating for policies that create transformative changes in kidney medicine throughout the world.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005

email@asn-online.org

202-640-4660

The Latest on X

Kidney Week

ASN / Education & Meetings / Kidney Week /
Abstract: FR-PO653

Results of Genetic Testing with a 385-Gene Panel in African American Patients with Kidney Diseases

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, United States
  • Gibson, Keisha L., The University of North Carolina at Chapel Hill Kidney Center, Chapel Hill, North Carolina, United States
  • Chaperon, Jessica, Natera, Inc., Austin, Texas, United States
  • Deyo, Jennifer, Natera, Inc., Austin, Texas, United States
  • Westemeyer, Margaret, Natera, Inc., Austin, Texas, United States
  • Baddar, Nour, Natera, Inc., Austin, Texas, United States
  • Bloom, Michelle, Natera, Inc., Austin, Texas, United States
  • Punj, Sumit, Natera, Inc., Austin, Texas, United States
  • Ainsworth, Hannah C., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Kmoch, Stanislav, Wake Forest University School of Medicine, Winston-Salem, United States
  • Freedman, Barry I., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
Background

While genetic factors like apolipoprotein 1 (APOL1) high-risk genotypes (HRG) account for much of the excess risk of end-stage kidney disease in African American (AA) patients, no broad studies of other monogenic kidney diseases in AA patients have been performed. Here we not only assessed the prevalence of APOL1 HRGs, but also tested for other genetic causes of kidney disease and the combined prevalence of APOL1 HRGs with these other genetic factors in a large cohort of AAs with kidney disease.

Methods

A retrospective analysis was performed on samples from a large cohort of self-reported AA patients who underwent testing with a 385 gene panel associated with common and rare genetic kidney diseases (the RenasightTM test).

Results

Of 8696 AA patients with kidney disease included in this study, positive genetic results were identified in 36.5% (3175/8696), of whom 62.5% (1985/3175) had a sole APOL1 HRG finding with no other positive genetic findings. Among the remaining 1190 patients, positive results spanned 119 genes including PKD1/2 (11.3%, n=359), COL4A3/4/5 (9.2%, n=293), HBB (beta hemoglobinopathies/thalassemia) (2.6%, n=84), and 113 other genes (15.3%, n=487). The frequency of APOL1 HRGs in patients with other genetic findings were: PKD1/2 (12.3%; 44/359), COL4A3/4/5 (24.9%; 73/293), HBB (22.6%;19/84), and other genetic diagnoses (21.8%;106/487). Compared with the reported frequency of APOL1 HRG in the general AA population (13.0%), in our cohort, APOL1 HRGs were present at a significantly higher frequency among AA patients with COL4A3/4/5, HBB, other genetic diagnoses (P < 0.05), but not with PKD1/2.

Conclusion

This study demonstrates that genetic factors beyond APOL1 HRGs are prevalent among AA patients with kidney disease. The broad range of genetic etiologies identified in this study demonstrates the need for comprehensive genetic testing in AA patients with kidney disease. Further research around the clinical characteristics of patients with APOL1 HRGs and a second positive finding will be needed to understand how kidney disease is driven by these genetic findings.