Genetic variants of calcium and vitamin D metabolism in kidney stone disease

Sarah A. Howles; Akira Wiberg; Michelle Goldsworthy; Asha L. Bayliss; Anna K. Gluck; Michael Ng; Emily Grout; Chizu Tanikawa; Yoichiro Kamatani; Chikashi Terao; Atsushi Takahashi; Michiaki Kubo; Koichi Matsuda; Rajesh V. Thakker; Benjamin W. Turney; Dominic Furniss

doi:10.1038/s41467-019-13145-x

Nature Communications (Nov 2019)

Genetic variants of calcium and vitamin D metabolism in kidney stone disease

Sarah A. Howles,
Akira Wiberg,
Michelle Goldsworthy,
Asha L. Bayliss,
Anna K. Gluck,
Michael Ng,
Emily Grout,
Chizu Tanikawa,
Yoichiro Kamatani,
Chikashi Terao,
Atsushi Takahashi,
Michiaki Kubo,
Koichi Matsuda,
Rajesh V. Thakker,
Benjamin W. Turney,
Dominic Furniss

Affiliations

Sarah A. Howles: Nuffield Department of Surgical Sciences, University of Oxford
Akira Wiberg: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford
Michelle Goldsworthy: Nuffield Department of Surgical Sciences, University of Oxford
Asha L. Bayliss: Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford
Anna K. Gluck: Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford
Michael Ng: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford
Emily Grout: Nuffield Department of Surgical Sciences, University of Oxford
Chizu Tanikawa: Laboratory of Genome Technology, Human Genome Centre, University of Tokyo
Yoichiro Kamatani: RIKEN Centre for Integrative Medical Sciences
Chikashi Terao: RIKEN Centre for Integrative Medical Sciences
Atsushi Takahashi: RIKEN Centre for Integrative Medical Sciences
Michiaki Kubo: RIKEN Centre for Integrative Medical Sciences
Koichi Matsuda: Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, University of Tokyo
Rajesh V. Thakker: Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford
Benjamin W. Turney: Nuffield Department of Surgical Sciences, University of Oxford
Dominic Furniss: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford

DOI: https://doi.org/10.1038/s41467-019-13145-x
Journal volume & issue: Vol. 10, no. 1
pp. 1 – 10

Abstract

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Kidney stones form in the presence of overabundance of crystal-forming substances such as Ca2+ and oxalate. Here, the authors report genome-wide association analyses for kidney stone disease, report seven previously unknown loci and find that some of these loci also associate with Ca2+ concentration and excretion.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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