SynthesisNature communications2019
Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Synthesis in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 85 papers, 7 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
85 citing papers in PubMed, 7 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.Nature communications · 2025Pooled it
- Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.Nature communications · 2023Pooled it
- Genome-Wide Association Study for eGFR in a Taiwanese Population.Clinical journal of the American Society of Nephrology : CJASN · 2022Pooled it
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- Pooled it
- First genome-wide association study investigating blood pressure and renal traits in domestic cats.Scientific reports · 2022Pooled it
- Pooled it
- Novel associations of Claudin gene variants with kidney stone disease.Clinical kidney journal · 2026Article
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Phenylalanine primes renal tubular redox vulnerability and calcium oxalate crystal retention through a PPARδ-CPT1A fatty-acid oxidation axis.Redox biology · 2026Article
- The Role of Altered Mineral Metabolism in Kidney Stone Disease: Is Vitamin D the Key?American journal of kidney diseases : the official journal of the National Kidney Foundation · 2026Article
- Genetic Determinants of Microvascular Complications of Type 1 Diabetes Mellitus: New Data from a Replication Study.Biomedicines · 2026Article
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Article
- Clusterin elaborated by renal tubular epithelial cells under high oxalate stress serves as a matrix protein to facilitate kidney stone formation.Cellular and molecular life sciences : CMLS · 2026Article
- Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.The Journal of clinical investigation · 2026Observational
- Fifty Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases.Journal of the American Society of Nephrology : JASN · 2026Review
- Sweetened beverage intake and risk of incident kidney stone: results from the UK Biobank.Frontiers in nutrition · 2026Article
- Personalised prevention and management of kidney stones: a narrative review on the importance of integrating environmental, social and genetic factors.Public health reviews · 2026Review
- Sex-Specific Associations Between Hyperuricemia and Kidney Stone Disease in a Large Taiwanese Cohort.International journal of medical sciences · 2026Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
Kidney stone disease (nephrolithiasis) is a major clinical and economic health burden with a heritability of ~45-60%. We present genome-wide association studies in British and Japanese populations and a trans-ethnic meta-analysis that include 12,123 cases and 417,378 controls, and identify 20 nephrolithiasis-associated loci, seven of which are previously unreported. A CYP24A1 locus is predicted to affect vitamin D metabolism and five loci, DGKD, DGKH, WDR72, GPIC1, and BCR, are predicted to influence calcium-sensing receptor (CaSR) signaling. In a validation cohort of only nephrolithiasis patients, the CYP24A1-associated locus correlates with serum calcium concentration and a number of nephrolithiasis episodes while the DGKD-associated locus correlates with urinary calcium excretion. In vitro, DGKD knockdown impairs CaSR-signal transduction, an effect rectified with the calcimimetic cinacalcet. Our findings indicate that studies of genotype-guided precision-medicine approaches, including withholding vitamin D supplementation and targeting vitamin D activation or CaSR-signaling pathways in patients with recurrent kidney stones, are warranted.
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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.