Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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...
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Online Access: | http://hdl.handle.net/2336/85798 https://doi.org/10.1038/ng.404 |
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/85798 2023-05-15T16:50:09+02:00 Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Thorleifsson, Gudmar Holm, Hilma Edvardsson, Vidar Walters, G Bragi Styrkarsdottir, Unnur Gudbjartsson, Daniel F Sulem, Patrick Halldorsson, Bjarni V de Vegt, Femmie d'Ancona, Frank C H den Heijer, Martin Franzson, Leifur Christiansen, Claus Alexandersen, Peter Rafnar, Thorunn Kristjansson, Kristleifur Sigurdsson, Gunnar Kiemeney, Lambertus A Bodvarsson, Magnus Indridason, Olafur S Palsson, Runolfur Kong, Augustine Thorsteinsdottir, Unnur Stefansson, Kari DeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. gudmar.thorleifsson@decode.is 2009-11-10 http://hdl.handle.net/2336/85798 https://doi.org/10.1038/ng.404 en eng Nature Pub. Co. http://dx.doi.org/10.1038/ng.404 Nat. Genet. 2009, 41(8):926-30 1546-1718 19561606 doi:10.1038/ng.404 http://hdl.handle.net/2336/85798 Nature genetics Adult Aged 80 and over Base Sequence Bone Density Calcium Chromosomes Human Pair 21 Female Genetic Predisposition to Disease Humans Kidney Calculi Membrane Proteins Middle Aged Molecular Sequence Data Mutation Article 2009 ftlandspitaliuni https://doi.org/10.1038/ng.404 2022-05-29T08:21:27Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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). Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Nature Genetics 41 8 926 930 |
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Hirsla - Landspítali University Hospital research archive |
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ftlandspitaliuni |
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English |
topic |
Adult Aged 80 and over Base Sequence Bone Density Calcium Chromosomes Human Pair 21 Female Genetic Predisposition to Disease Humans Kidney Calculi Membrane Proteins Middle Aged Molecular Sequence Data Mutation |
spellingShingle |
Adult Aged 80 and over Base Sequence Bone Density Calcium Chromosomes Human Pair 21 Female Genetic Predisposition to Disease Humans Kidney Calculi Membrane Proteins Middle Aged Molecular Sequence Data Mutation Thorleifsson, Gudmar Holm, Hilma Edvardsson, Vidar Walters, G Bragi Styrkarsdottir, Unnur Gudbjartsson, Daniel F Sulem, Patrick Halldorsson, Bjarni V de Vegt, Femmie d'Ancona, Frank C H den Heijer, Martin Franzson, Leifur Christiansen, Claus Alexandersen, Peter Rafnar, Thorunn Kristjansson, Kristleifur Sigurdsson, Gunnar Kiemeney, Lambertus A Bodvarsson, Magnus Indridason, Olafur S Palsson, Runolfur Kong, Augustine Thorsteinsdottir, Unnur Stefansson, Kari Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. |
topic_facet |
Adult Aged 80 and over Base Sequence Bone Density Calcium Chromosomes Human Pair 21 Female Genetic Predisposition to Disease Humans Kidney Calculi Membrane Proteins Middle Aged Molecular Sequence Data Mutation |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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). |
author2 |
DeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. gudmar.thorleifsson@decode.is |
format |
Article in Journal/Newspaper |
author |
Thorleifsson, Gudmar Holm, Hilma Edvardsson, Vidar Walters, G Bragi Styrkarsdottir, Unnur Gudbjartsson, Daniel F Sulem, Patrick Halldorsson, Bjarni V de Vegt, Femmie d'Ancona, Frank C H den Heijer, Martin Franzson, Leifur Christiansen, Claus Alexandersen, Peter Rafnar, Thorunn Kristjansson, Kristleifur Sigurdsson, Gunnar Kiemeney, Lambertus A Bodvarsson, Magnus Indridason, Olafur S Palsson, Runolfur Kong, Augustine Thorsteinsdottir, Unnur Stefansson, Kari |
author_facet |
Thorleifsson, Gudmar Holm, Hilma Edvardsson, Vidar Walters, G Bragi Styrkarsdottir, Unnur Gudbjartsson, Daniel F Sulem, Patrick Halldorsson, Bjarni V de Vegt, Femmie d'Ancona, Frank C H den Heijer, Martin Franzson, Leifur Christiansen, Claus Alexandersen, Peter Rafnar, Thorunn Kristjansson, Kristleifur Sigurdsson, Gunnar Kiemeney, Lambertus A Bodvarsson, Magnus Indridason, Olafur S Palsson, Runolfur Kong, Augustine Thorsteinsdottir, Unnur Stefansson, Kari |
author_sort |
Thorleifsson, Gudmar |
title |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. |
title_short |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. |
title_full |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. |
title_fullStr |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. |
title_full_unstemmed |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. |
title_sort |
sequence variants in the cldn14 gene associate with kidney stones and bone mineral density. |
publisher |
Nature Pub. Co. |
publishDate |
2009 |
url |
http://hdl.handle.net/2336/85798 https://doi.org/10.1038/ng.404 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1038/ng.404 Nat. Genet. 2009, 41(8):926-30 1546-1718 19561606 doi:10.1038/ng.404 http://hdl.handle.net/2336/85798 Nature genetics |
op_doi |
https://doi.org/10.1038/ng.404 |
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Nature Genetics |
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41 |
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926 |
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930 |
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