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.