ArticleScientific reports2019
The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 4 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 4 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.Nature communications · 2025Pooled it
- Genes polymorphism as risk factor of recurrent urolithiasis: a systematic review and meta-analysis.BMC nephrology · 2023Pooled it
- Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.Frontiers in genetics · 2022Pooled it
- Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.PloS one · 2021Pooled it
- Kidney function decline and kidney stone risk: cohort and Mendelian randomization analyses.Renal failure · 2026Article
- Cell type-stratified immunogenetic framework reveals immune drivers and therapeutic targets in kidney stone disease.Molecular therapy. Nucleic acids · 2026Article
- The association between the presence of kidney stones and the risk of developing osteoporosis: a NHANES-based cross-sectional study and Mendelian randomization analysis.International urology and nephrology · 2025Observational
- 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
- The Intricacies of Renal Phosphate Reabsorption-An Overview.International journal of molecular sciences · 2024Review
- EAF2: a tumor suppressor gene with multi-aspect functions.Frontiers in pharmacology · 2024Review
- Risk factors for the comorbidity of osteoporosis/osteopenia and kidney stones: a cross-sectional study.Archives of osteoporosis · 2023Article
- The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population.Urolithiasis · 2022Article
- Genetic Variants Associated With Mineral Metabolism Traits in Chronic Kidney Disease.The Journal of clinical endocrinology and metabolism · 2022Article
- Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.Journal of endocrinological investigation · 2022Article
- The Association of Urine Creatinine With Kidney Stone Prevalence in US Adults: Data From NHANES 2009-2018.Frontiers in medicine · 2022Article
- Is the METS-IR Index a Potential New Biomarker for Kidney Stone Development?Frontiers in endocrinology · 2022Article
- Relationship between hepatitis C and kidney stone in US females: Results from the National Health and Nutrition Examination Survey in 2007-2018.Frontiers in public health · 2022Article
- Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.BMC medical genomics · 2021Article
- RGS14 Regulation of Post-Synaptic Signaling and Spine Plasticity in Brain.International journal of molecular sciences · 2021Review
- Genetic Susceptibility to Nephrolithiasis: A Genome-Phenome Approach with Polygenic Risk Score Analysis.Kidney diseases (Basel, Switzerland)Article
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, three candidate polymorphisms were selected from previous studies to investigate the correlations with nephrolithiasis in a Taiwanese population. In total, 454 nephrolithiasis patients were recruited from Kaohsiung Medical University Hospital, with SNP frequency for 1513 subjects of general population from the Taiwan Biobank (TWB) as a genotypic reference. Results revealed that subjects with minor TT genotype at rs1256328 (alkaline phosphatase, liver/bone/kidney (ALPL)) have higher susceptibility to nephrolithiasis (odds ratio (OR) = 2.03, p = 0.0013). In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017). Among nephrolithiasis patients, subjects with GG at rs7627468 (calcium-sensing receptor (CASR)) have lower pH level in urine (p = 0.0088). Importantly, rs7627468 is associated with the expressions of IQCB1 and EAF2. rs12654812 could influence the expression of RGS14 itself, MXD3, and FGFR4. In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.
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