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

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.

journal_name

Urolithiasis

journal_title

Urolithiasis

authors

Palsson R,Indridason OS,Edvardsson VO,Oddsson A

doi

10.1007/s00240-018-1094-2

subject

Has Abstract

pub_date

2019-02-01 00:00:00

pages

11-21

issue

1

eissn

2194-7228

issn

2194-7236

pii

10.1007/s00240-018-1094-2

journal_volume

47

pub_type

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