Kidney Week

Abstract: TH-PO0602

APOL1 Genetic Testing, Family History of Hypertension and Kidney Disease, and Renal Risk Variant Distributions in a Midwestern US Cohort

Session Information

• Monogenic Kidney Diseases: Glomerular
  November 06, 2025 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases

Authors

• Lentine, Krista L., Saint Louis University, St. Louis, Missouri, United States

Krista L. Lentine, MD, PhD, FASN

• Elsurer Afsar, Rengin, Saint Louis University, St. Louis, Missouri, United States

Rengin Elsurer Afsar, MD

• Clair, Bryan, Saint Louis University, St. Louis, Missouri, United States

Bryan Clair, PhD

• Memon, Aliza Anwar, Saint Louis University, St. Louis, Missouri, United States

Aliza Anwar Memon, MD

• Miyata, Kana, Saint Louis University, St. Louis, Missouri, United States

Kana Miyata, MD, FASN

• Edwards, John C., Saint Louis University, St. Louis, Missouri, United States

John C. Edwards, MD, PhD

• Afsar, Baris, Saint Louis University, St. Louis, Missouri, United States

Baris Afsar, MD

• Abu Al Rub, Fadee, Saint Louis University, St. Louis, Missouri, United States

Fadee Abu Al Rub, MD

• Xiao, Huiling, Saint Louis University, St. Louis, Missouri, United States

Huiling Xiao, MS

• Carriker, Amber, Mid-America Transplant, St. Louis, Missouri, United States

Amber Carriker

• Hsu, Chi-yuan, University of California San Francisco, San Francisco, California, United States

Chi-yuan Hsu, MD, MS, MSc, FASN

• Muiru, Anthony N., University of California San Francisco, San Francisco, California, United States

Anthony N. Muiru, MD, MPH

• Vo, Thanh-Mai Nguyen, Saint Louis University, St. Louis, Missouri, United States

Thanh-Mai Nguyen Vo, MD

• Freedman, Barry I., Wake Forest University, Winston-Salem, North Carolina, United States

Barry I. Freedman, MD

• Philipneri, Marie D., Saint Louis University, St. Louis, Missouri, United States

Marie D. Philipneri, MD, PhD

• Caliskan, Yasar, Saint Louis University, St. Louis, Missouri, United States

Yasar Caliskan, MD

Background

Understanding of contributions of family history, genetic factors such as apolipoprotein L1 (APOL1) renal risk variants (RRVs), and other clinical and environmental factors to the higher risk of kidney disease among Black persons is evolving.

Methods

We are prospectively assembling a study cohort of Black individuals who undergo APOL1 genotyping and complete surveys at one Midwestern U.S. hospital (NCT05656261). Herein we report APOL1 RRV and family history distributions in participants with 3 months of follow-up (enrolled Jan 2019–03/21/25).

Results

Amongst 220 participants, 16.8% had APOL1 high-risk genotype (2 RRVs), found in 18% of those who reported a family history of hypertension and kidney disease, but in only 13% of those without a family history of either condition. High-risk APOL1 genotype prevalence increased with antihypertensive medication requirements (24% in those taking ≥4 agents) and was more common in those with lower race-free estimated glomerular filtration rate (eGFR), albuminuria (Fig. 1), and with a decline in eGFR level at 3-months.

Among participants with eGFR <30 ml/min/1.73m², 23% had a high-risk genotype: 13% had both a high-risk genotype and family history, while 10% had a high-risk genotype without family history. Conversely, 43% had a low-risk genotype but reported a family history.

Conclusion

High-risk APOL1 genotype is more common in those with a family history of hypertension and/or kidney disease, higher antihypertensive medication requirements, lower kidney function and albuminuria, and in those with eGFR decline over short follow-up. Genetic and familial risk factors are only partially overlapping and may contribute independently to kidney disease risk.

Funding

• Private Foundation Support

Digital Object Identifier (DOI)

• doi: 10.1681/ASN.2025js7asnhr