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Updated: Sep 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
African-specific variants at the GATM locus and genetic bias in creatinine-based GFR estimation
Atlas Khan1, Krzysztof Kiryluk1
1Division of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Abstract:
Serum creatinine-based estimated glomerular filtration rate is widely used to assess kidney function but is influenced by nonrenal determinants of creatinine production. The recent identification of an African ancestry-specific glycine amidinotransferase variant that increases creatine synthesis and serum creatinine without affecting measured kidney function provides a biological explanation for part of the residual bias in creatinine-based estimated glomerular filtration rate among individuals of African ancestry.
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