PDE1A polymorphism contributes to the susceptibility of nephrolithiasis
We here provide evidence
for a monogenic cause of nephrolithiasis, or kidney stones, based on an
association of a polymorphism in the PDE1A
gene. This variant was detected through whole-exome analysis of ten members of
an affected family, as well as a case–control study of a validation cohort
including over 2000 patients at our hospital.
