ReviewUrolithiasis2019
Genetics of common complex kidney stone disease: insights from genome-wide association studies.
Review in Urolithiasis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- A holistic guide to effective prevention and treatment for kidney stones: a systematic review exploring anti-urolithiasis approaches.Naunyn-Schmiedeberg's archives of pharmacology · 2026Pooled it
- Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.Frontiers in genetics · 2022Pooled it
- Development and validation of a predictive model for calcium oxalate kidney stone recurrence integrating gut microbiome and clinical features.World journal of urology · 2026Article
- Kidney stones and autosomal dominant polycystic kidney disease: a state-of-the-art review.Renal failure · 2025Review
- Analysis of toxicity and mechanisms of aspartame in kidney stones with network toxicology and molecular docking strategy.Scientific reports · 2025Article
- Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis.Urolithiasis · 2025Article
- Genetic susceptibility to kidney stone disease: unveiling pathogenesis and potential therapeutic targets.The Journal of clinical investigation · 2025Article
- Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel.Urolithiasis · 2025Article
- A high-calcium environment induced ectopic calcification of renal interstitial fibroblasts via TFPI-2-DCHS1-ALP/ENPP1 axis to participate in Randall's plaque formation.Urolithiasis · 2024Article
- Familial aggregation of urolithiasis: findings from a Nationwide Middle Eastern study.Urolithiasis · 2024Article
- Article
- Serum metabolomics study reveals a distinct metabolic diagnostic model for renal calculi.Heliyon · 2024Article
- Tight junction and kidney stone disease.Tissue barriers · 2024Review
- Plasma proteome fingerprint in kidney diseases.Frontiers in molecular biosciences · 2024Article
- Risk factors for the comorbidity of osteoporosis/osteopenia and kidney stones: a cross-sectional study.Archives of osteoporosis · 2023Article
- Meta-data analysis of kidney stone disease highlights ATP1A1 involvement in renal crystal formation.Redox biology · 2023Article
- Review
- Skeletal and extraskeletal disorders of biomineralization.Nature reviews. Endocrinology · 2022Review
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.