Sampson Lab Members Co-Author New JAMA Network Open Study on APOL1 Kidney Disease
Congratulations to Sidhant Puntambekar, Michelle T. McNulty, Janewit Wongboonsin, and Matt Sampson, who co-authored a new study published in JAMA Network Open titled “Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.”
The study examined whether the APOL1 M1 (p.N264K) variant can help improve diagnostic precision in people with APOL1-associated kidney disease. Researchers analyzed data from more than 107,000 individuals across multiple clinical and population-based cohorts.
Among individuals with APOL1 high-risk genotypes and kidney disease, the presence of the M1 variant was associated with a lower likelihood of FSGS or steroid-resistant nephrotic syndrome. Importantly, when individuals with high-risk APOL1 genotypes also carried M1, researchers were often able to identify an alternative, non-APOL1 cause of their chronic kidney disease.
The findings suggest that M1 status may provide additional context when determining the underlying cause of kidney disease in patients with APOL1 high-risk genotypes, potentially supporting more precise diagnosis and clinical decision-making.
We’re proud to see Sampson Lab members contribute to this collaborative work advancing our understanding of the genetics behind kidney disease.
Congratulations to the team on this publication!
