Genetics of common complex kidney stone disease: insights from genome-wide association studies.
To access publisher's full text version of this article click on the hyperlink below Kidney stone disease is a common disorder in Western countries that is associated with significant suffering, morbidity, and cost for the healthcare system. Numerous studies have demonstrated familial aggregati...
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/620879 2023-05-15T16:51:12+02:00 Genetics of common complex kidney stone disease: insights from genome-wide association studies. Palsson, Runolfur Indridason, Olafur S Edvardsson, Vidar O Oddsson, Asmundur 1 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. runolfur@landspitali.is. 2 Division of Nephrology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. runolfur@landspitali.is. 3 Division of Nephrology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 4 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 5 Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 6 Department of Statistics, deCODE genetics, Reykjavik, Iceland. 2019-04 http://hdl.handle.net/2336/620879 https://doi.org/10.1007/s00240-018-1094-2 en eng Springer https://link.springer.com/article/10.1007/s00240-018-1094-2 Genetics of common complex kidney stone disease: insights from genome-wide association studies. 2019, 47(1):11-21 Urolithiasis 2194-7236 30523390 doi:10.1007/s00240-018-1094-2 http://hdl.handle.net/2336/620879 Urolithiasis National Consortium - Landsaðgangur Urolithiasis Genealogy Genomics Genotyping Nephrolithiasis Whole-genome sequencing Nýrnasteinar Gen Genome-Wide Association Study Kidney Calculi Article 2019 ftlandspitaliuni https://doi.org/10.1007/s00240-018-1094-2 2022-05-29T08:22:25Z To access publisher's full text version of this article click on the hyperlink below Kidney stone disease is a common disorder in Western countries that is associated with significant suffering, morbidity, and cost for the healthcare system. Numerous studies have demonstrated familial aggregation of nephrolithiasis and a twin study estimated the heritability to be 56%. Over the past decade, genome-wide association studies have uncovered several sequence variants that confer increased risk of common complex kidney stone disease. The first reported variants were observed at the CLDN14 locus in the Icelandic population. This finding has since been replicated in other populations. The CLDN14 gene is expressed in tight junctions of the thick ascending limb of the loop of Henle, where the protein is believed to play a role in regulation of calcium transport. More recent studies have uncovered variants at the ALPL, SLC34A1, CASR, and TRPV5 loci, the first two genes playing a role in renal handling of phosphate, while the latter two are involved in calcium homeostasis. Although genetic data have provided insights into the molecular basis of kidney stone disease, much remains to be learned about the contribution of genetic factors to stone formation. Nevertheless, the progress made in recent years indicates that exciting times lie ahead in genetic research on kidney stone disease. NIDDK in the US Landspitali University Hospital Science Fund University of Iceland Science Fund NCATS in the US Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Urolithiasis 47 1 11 21 |
institution |
Open Polar |
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Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Genealogy Genomics Genotyping Nephrolithiasis Whole-genome sequencing Nýrnasteinar Gen Genome-Wide Association Study Kidney Calculi |
spellingShingle |
Genealogy Genomics Genotyping Nephrolithiasis Whole-genome sequencing Nýrnasteinar Gen Genome-Wide Association Study Kidney Calculi Palsson, Runolfur Indridason, Olafur S Edvardsson, Vidar O Oddsson, Asmundur Genetics of common complex kidney stone disease: insights from genome-wide association studies. |
topic_facet |
Genealogy Genomics Genotyping Nephrolithiasis Whole-genome sequencing Nýrnasteinar Gen Genome-Wide Association Study Kidney Calculi |
description |
To access publisher's full text version of this article click on the hyperlink below Kidney stone disease is a common disorder in Western countries that is associated with significant suffering, morbidity, and cost for the healthcare system. Numerous studies have demonstrated familial aggregation of nephrolithiasis and a twin study estimated the heritability to be 56%. Over the past decade, genome-wide association studies have uncovered several sequence variants that confer increased risk of common complex kidney stone disease. The first reported variants were observed at the CLDN14 locus in the Icelandic population. This finding has since been replicated in other populations. The CLDN14 gene is expressed in tight junctions of the thick ascending limb of the loop of Henle, where the protein is believed to play a role in regulation of calcium transport. More recent studies have uncovered variants at the ALPL, SLC34A1, CASR, and TRPV5 loci, the first two genes playing a role in renal handling of phosphate, while the latter two are involved in calcium homeostasis. Although genetic data have provided insights into the molecular basis of kidney stone disease, much remains to be learned about the contribution of genetic factors to stone formation. Nevertheless, the progress made in recent years indicates that exciting times lie ahead in genetic research on kidney stone disease. NIDDK in the US Landspitali University Hospital Science Fund University of Iceland Science Fund NCATS in the US |
author2 |
1 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. runolfur@landspitali.is. 2 Division of Nephrology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. runolfur@landspitali.is. 3 Division of Nephrology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 4 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 5 Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 6 Department of Statistics, deCODE genetics, Reykjavik, Iceland. |
format |
Article in Journal/Newspaper |
author |
Palsson, Runolfur Indridason, Olafur S Edvardsson, Vidar O Oddsson, Asmundur |
author_facet |
Palsson, Runolfur Indridason, Olafur S Edvardsson, Vidar O Oddsson, Asmundur |
author_sort |
Palsson, Runolfur |
title |
Genetics of common complex kidney stone disease: insights from genome-wide association studies. |
title_short |
Genetics of common complex kidney stone disease: insights from genome-wide association studies. |
title_full |
Genetics of common complex kidney stone disease: insights from genome-wide association studies. |
title_fullStr |
Genetics of common complex kidney stone disease: insights from genome-wide association studies. |
title_full_unstemmed |
Genetics of common complex kidney stone disease: insights from genome-wide association studies. |
title_sort |
genetics of common complex kidney stone disease: insights from genome-wide association studies. |
publisher |
Springer |
publishDate |
2019 |
url |
http://hdl.handle.net/2336/620879 https://doi.org/10.1007/s00240-018-1094-2 |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Urolithiasis |
op_relation |
https://link.springer.com/article/10.1007/s00240-018-1094-2 Genetics of common complex kidney stone disease: insights from genome-wide association studies. 2019, 47(1):11-21 Urolithiasis 2194-7236 30523390 doi:10.1007/s00240-018-1094-2 http://hdl.handle.net/2336/620879 Urolithiasis |
op_rights |
National Consortium - Landsaðgangur |
op_doi |
https://doi.org/10.1007/s00240-018-1094-2 |
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Urolithiasis |
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47 |
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11 |
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21 |
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