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Article

A common intronic single nucleotide variant modifies PKD1 expression level.

Clinical genetics - 1 Dec 2022

Zhang Zhengmao, Blumenfeld Jon, Ramnauth Andrew, Barash Irina, Zhou Pengbo, Levine Daniel, Parker Thomas, Rennert Hanna

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in PKD1 and PKD2 (PKD1/2), has unexplained phenotypic variability likely affected by environmental and other genetic factors. Approximately 10% of individuals with ADPKD phenotype have no causal mutation detected, possibly due to unrecognized risk variants of PKD1/2. This study was designed to identify risk variants of PKD genes through...

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PMID: 36029107
DOI: 10.1111/cge.14214
PMCID: PMC10947153

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