A common variant of the PAX2 gene is associated with reduced newborn kidney size

J Quinlan, M Lemire, T Hudson, H Qu… - Journal of the …, 2007 - journals.lww.com
Congenital nephron number ranges widely in the human population. Suboptimal nephron
number may be associated with increased risk for essential hypertension and susceptibility
to renal injury, but the factors that set nephron number during kidney development are
unknown. In renal-coloboma syndrome, renal hypoplasia and reduced nephron number are
due to heterozygous mutations of the PAX2 gene. This study tested for an association
between a common haplotype of the PAX2 gene and subtle renal hypoplasia in normal …