Genetic variants of calcium and vitamin D metabolism in kidney stone disease
Sarah Howles, Akira Wiberg, Michelle E. Goldsworthy, Asha L. Bayliss, Anna Gluck, Michael Ng, Emily Grout, Chizu Tanikawa, Yoichiro Kamatani, Chikashi C. Terao, Atsushi Takahashi, Michiaki Kubo, Koichi Matsuda, Rajesh V. Thakker, Benjamin W. Turney, Dominic Furniss
This study identifies 20 genetic loci associated with kidney stone disease, including novel variants in CYP24A1 and DGKD, which influence vitamin D metabolism and calcium-sensing receptor signaling.
Nature Communications · Nov 15, 2019Peer-reviewedGenomics