A common RET variant is associated with reduced newborn kidney size and function

Z Zhang, J Quinlan, W Hoy, MD Hughson… - Journal of the …, 2008 - journals.lww.com
Congenital nephron number varies five-fold among normal humans, and individuals at the
lower end of this range may have an increased lifetime risk for essential hypertension or
renal insufficiency; however, the mechanisms that determine nephron number are unknown.
This study tested the hypothesis that common hypomorphic variants of the RET gene, which
encodes a tyrosine kinase receptor critical for renal branching morphogenesis, might
account for subtle renal hypoplasia in some normal newborns. A common single-nucleotide …