Urolithiasis is a common disorder that has several metabolic risk factors, most notably hypercalciuria. Genetic variants associated with urolithiasis have been identified from linkage and candidate gene studies, as well as from the first genome-wide association study of this condition, highlighting the role of several proteins in disease development and progression. In this Review, Monico and Milliner summarize the findings from studies that have advanced the understanding of the genetic basis of urolithiasis.
- Carla G. Monico
- Dawn S. Milliner