Precision Diagnosis in Kidney Disease With the p.N264K M1 Protective Variant

What is the association of the protective M1 (p.N264K) variant with kidney disease risk in individuals with high-risk (-HR) and low-risk (-LR) genotypes?In this case-control study of 107 696 individuals, the M1 variant was associated with improved diagnostic precision for kidney disease causes among individuals with -HR genotypes and showed no independent association with protection in the general population of individuals with -LR genotypes.These findings suggest that presence of the M1 variant in individuals with -HR genotypes may point to a distinct and potentially actionable mechanism of kidney disease.

Corresponding Author: Simone Sanna-Cherchi, MD, Division of Nephrology, Columbia University Vagelos College of Physicians and Surgeons, 650 W 168th St, William Black Medical Research Building, 9th Floor, BB9-901F, New York, NY 10032 (ss2517@cumc.columbia.edu).

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