Title |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density
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Published in |
Nature Genetics, June 2009
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DOI | 10.1038/ng.404 |
Pubmed ID | |
Authors |
Gudmar Thorleifsson, Hilma Holm, Vidar Edvardsson, G Bragi Walters, Unnur Styrkarsdottir, Daniel F Gudbjartsson, Patrick Sulem, Bjarni V Halldorsson, Femmie de Vegt, Frank C H d'Ancona, Martin den Heijer, Leifur Franzson, Claus Christiansen, Peter Alexandersen, Thorunn Rafnar, Kristleifur Kristjansson, Gunnar Sigurdsson, Lambertus A Kiemeney, Magnus Bodvarsson, Olafur S Indridason, Runolfur Palsson, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson |
Abstract |
Kidney stone disease is a common condition. To search for sequence variants conferring risk of kidney stones, we conducted a genome-wide association study in 3,773 cases and 42,510 controls from Iceland and The Netherlands. We discovered common, synonymous variants in the CLDN14 gene that associate with kidney stones (OR = 1.25 and P = 4.0 x 10(-12) for rs219780[C]). Approximately 62% of the general population is homozygous for rs219780[C] and is estimated to have 1.64 times greater risk of developing the disease compared to noncarriers. The CLDN14 gene is expressed in the kidney and regulates paracellular permeability at epithelial tight junctions. The same variants were also found to associate with reduced bone mineral density at the hip (P = 0.00039) and spine (P = 0.0077). |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | <1% |
United States | 1 | <1% |
Iceland | 1 | <1% |
China | 1 | <1% |
Unknown | 99 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 23 | 22% |
Student > Ph. D. Student | 19 | 18% |
Professor > Associate Professor | 10 | 10% |
Student > Bachelor | 9 | 9% |
Student > Doctoral Student | 7 | 7% |
Other | 17 | 17% |
Unknown | 18 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 31 | 30% |
Agricultural and Biological Sciences | 21 | 20% |
Biochemistry, Genetics and Molecular Biology | 16 | 16% |
Nursing and Health Professions | 2 | 2% |
Business, Management and Accounting | 2 | 2% |
Other | 7 | 7% |
Unknown | 24 | 23% |