TRPV5 and nephrolithiasis: Genome-wide association studies of recurrent kidney stone formers also failed to identify a TRPV5 signal at the genome-wide level, but a rare missense variant (p.(Leu530Arg)) affecting the pore-forming region of TRPV5 was identified in a large case-control study from Iceland and significantly associated with risk of recurrent kidney stones [7].