ea0065oc3.6 | Bone and Calcium | SFEBES2019
Goldsworthy Michelle
, Bayliss Asha
, Gluck Anna
, Wiberg Akira
, Turney Benjamin
, Furniss Dominic
, Thakker Rajesh
, Howles Sarah
Nephrolithiasis is a major clinical and economic health burden. We performed a genome-wide association study in British and Japanese nephrolithiasis populations and identified twenty nephrolithiasis-associated loci, five of which (DGKD, DGKH, WDR72, GPIC1 and BCR) were predicted to influence calcium-sensing receptor (CaSR) signalling. Gain-of-function CaSR-signalling pathway mutations cause enhanced signalling via intracellular calcium ([Ca2+]...