ArticleJournal of the American Society of Nephrology : JASN2019
Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.
Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 4 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 4 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.Nature communications · 2025Pooled it
- Recent Progression and Treatment Approaches for the Kidney Stone Management.Current drug targets · 2025Pooled it
- Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study.BMC medical genetics · 2020Pooled it
- Genetic variants of calcium and vitamin D metabolism in kidney stone disease.Nature communications · 2019Pooled it
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- BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types.ESMO open · 2026Article
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- Personalised prevention and management of kidney stones: a narrative review on the importance of integrating environmental, social and genetic factors.Public health reviews · 2026Review
- Pre-operatively predicting kidney stone recurrence: integrating radiomic features and clinical variables using machine learning.BMC medical imaging · 2025Article
- Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists.Frontiers in medicine · 2025Review
- Genome-wide association studies and traditional Chinese medicine in hyperuricemia: current evidence and mechanistic insights.Frontiers in pharmacology · 2025Review
- Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease.Genes · 2024Review
- Association of single nucleotide genetic polymorphisms of vitamin D receptor and calcium-sensitive receptor with calcium-containing kidney stones in Chinese Dai populations: a prospective multi-center study.International urology and nephrology · 2024Article
- Evaluation of Genetic Associations with Clinical Phenotypes of Kidney Stone Disease.European urology open science · 2024Article
- Article
- The Intricacies of Renal Phosphate Reabsorption-An Overview.International journal of molecular sciences · 2024Review
- Predictive value of single-nucleotide polymorphism signature for nephrolithiasis recurrence: a 5-year prospective study.Clinical kidney journal · 2023Article
- Association analysis of 10 candidate genes causing Mendelian calcium nephrolithiasis in the INCIPE study: a South European general population cohort.Clinical kidney journal · 2023Article
- Article
- Nephrolithiasis: A Red Flag for Cardiovascular Risk.Journal of clinical medicine · 2022Review
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Authors and funding
24 authors at 9 institutions in 3 countries.
Funding
Abstract
backgroundA family history of urolithiasis is associated with a more than doubling of urolithiasis risk, and a twin study estimating 56% heritability of the condition suggests a pivotal role for host genetic factors. However, previous genome-wide association studies (GWAS) have identified only six risk-related loci.
methodsTo identify novel urolithiasis-related loci in the Japanese population, we performed a large-scale GWAS of 11,130 cases and 187,639 controls, followed by a replication analysis of 2289 cases and 3817 controls. Diagnosis of urolithiasis was confirmed either by a clinician or using medical records or self-report. We also assessed the association of urolithiasis loci with 16 quantitative traits, including metabolic, kidney-related, and electrolyte traits (such as body mass index, lipid storage, eGFR, serum uric acid, and serum calcium), using up to 160,000 samples from BioBank Japan.
resultsThe analysis identified 14 significant loci, including nine novel loci. Ten regions showed a significant association with at least one quantitative trait, including metabolic, kidney-related, and electrolyte traits, suggesting a common genetic basis for urolithiasis and these quantitative traits. Four novel loci were related to metabolic traits, obesity, hypertriglyceridemia, or hyperuricemia. The remaining ten loci were associated with kidney- or electrolyte-related traits; these may affect crystallization. Weighted genetic risk score analysis indicated that the highest risk group (top 20%) showed an odds ratio of 1.71 (95% confidence interval, 1.42 to 2.06) - 2.13 (95% confidence interval, 2.00 to 2.27) compared with the reference group (bottom 20%).
conclusionsOur findings provide evidence that host genetic factors related to regulation of metabolic and crystallization pathways contribute to the development of urolithiasis.
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