Article
Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Nature communications - 15 Nov 2019
Howles Sarah A, Wiberg Akira, Goldsworthy Michelle, Bayliss Asha L, Gluck Anna K, Ng Michael, Grout Emily, Tanikawa Chizu, Kamatani Yoichiro, Terao Chikashi, Takahashi Atsushi, Kubo Michiaki, Matsuda Koichi, Thakker Rajesh V, Turney Benjamin W, Furniss Dominic
Abstract excerpt
Kidney stone disease (nephrolithiasis) is a major clinical and economic health burden with a heritability of ~45-60%. We present genome-wide association studies in British and Japanese populations and a trans-ethnic meta-analysis that include 12,123 cases and 417,378 controls, and identify 20 nephrolithiasis-associated loci, seven of which are previously unreported. A CYP24A1 locus is predicted to affect vitamin...
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