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01-02-2019 | Invited Review

Genetics of common complex kidney stone disease: insights from genome-wide association studies

Authors: Runolfur Palsson, Olafur S. Indridason, Vidar O. Edvardsson, Asmundur Oddsson

Published in: Urolithiasis | Issue 1/2019

Abstract

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.

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Title: Genetics of common complex kidney stone disease: insights from genome-wide association studies
Authors: Runolfur Palsson
Olafur S. Indridason
Vidar O. Edvardsson
Asmundur Oddsson
Publication date: 01-02-2019
Publisher: Springer Berlin Heidelberg
Published in: Urolithiasis / Issue 1/2019
Print ISSN: 2194-7228
Electronic ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-018-1094-2

At a glance: The STEP trials

Springer Medicine

Genetics of common complex kidney stone disease: insights from genome-wide association studies

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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