PDE1A polymorphism contributes to the susceptibility of nephrolithiasis.

ABSTRACT:

Background

Previous studies have confirmed a family risk of nephrolithiasis (NL), but only 15% of all cases are associated with an identified monogenic factor. In clinical practice, our group encountered a patient with NL combined with cystic kidney disease that had 3 affected family members. No known mutations association with NL was detected in this family, and thus further investigation of the molecular cause of NL was deemed to be necessary.

Results

Quality analysis from the sequencing stage showed a more than 80-fold average depth and 95% coverage for each sample, and six mutations within six genes were chosen as candidate variants for further validation. Genotyping of rs182089527in the phosphodiesterase 1A (PDE1A) gene in the validation cohort indicated that the altern

SUBMITTER: Yang Z 

PROVIDER: S-EPMC5738135 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature