ArticleThe Journal of clinical endocrinology and metabolism2013
Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled 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
- FKBP5 deficiency attenuates calcium oxalate kidney stone formation by suppressing cell-crystal adhesion, apoptosis and macrophage M1 polarization via inhibition of NF-κB signaling.Cellular and molecular life sciences : CMLS · 2023Article
- Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.Urolithiasis · 2022Article
- The calcium-sensing receptor in inflammation: Recent updates.Frontiers in physiology · 2022Review
- Association between intelectin-1 variation and human kidney stone disease in northeastern Thai population.Urolithiasis · 2021Article
- Crosstalk between Renal and Vascular Calcium Signaling: The Link between Nephrolithiasis and Vascular Calcification.International journal of molecular sciences · 2021Review
- Association ofFrontiers in genetics · 2021Article
- Idiopathic Osteoporosis and Nephrolithiasis: Two Sides of the Same Coin?International journal of molecular sciences · 2020Review
- Calcium-sensing receptor gene (CASR) polymorphisms and CASR transcript level concerning dyslipidemia in hemodialysis patients: a cross-sectional study.BMC nephrology · 2019Article
- The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.Scientific reports · 2019Article
- Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.Urolithiasis · 2019Review
- Calcium-sensing receptor: evidence and hypothesis for its role in nephrolithiasis.Urolithiasis · 2019Review
- The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.Nature reviews. Endocrinology · 2018Review
- Calcium-sensing receptor (CaSR) modulates vacuolar HClinical and experimental nephrology · 2018Article
- Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population.Medicine · 2018Article
- Review
- Calcium urolithiasis course in young stone formers is influenced by the strength of family history: results from a retrospective study.Urolithiasis · 2017Article
- Epidemiology of stone disease across the world.World journal of urology · 2017Review
Corrections and comments
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Authors and funding
41 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCaSR gene is a candidate for calcium nephrolithiasis. Single-nucleotide polymorphisms (SNPs) encompassing its regulatory region were associated with calcium nephrolithiasis.
aimsWe tested SNPs in the CaSR gene regulatory region associated with calcium nephrolithiasis and their effects in kidney. SUBJECTS AND
methodsOne hundred sixty-seven idiopathic calcium stone formers and 214 healthy controls were genotyped for four CaSR gene SNPs identified by bioinformatics analysis as modifying transcription factor binding sites. Strontium excretion after an oral load was tested in 55 stone formers. Transcriptional activity induced by variant alleles at CaSR gene promoters was compared by luciferase reporter gene assay in HEK-293 and HKC-8 cells. CaSR and claudin-14 mRNA levels were measured by real-time PCR in 107 normal kidney medulla samples and compared in patients with different CaSR genotype.
resultsOnly rs6776158 (A>G), located in the promoter 1, was associated with nephrolithiasis. Its minor G allele was more frequent in stone formers than controls (37.8% vs 26.4%, P = .001). A reduced strontium excretion was observed in GG homozygous stone formers. Luciferase fluorescent activity was lower in cells transfected with the promoter 1 including G allele at rs6776158 than cells transfected with the A allele. CaSR mRNA levels were lower in kidney medulla samples from homozygous carriers for the G allele at rs6776158 than carriers for the A allele. Claudin-14 mRNA levels were also lower in GG homozygous subjects.
conclusionsMinor allele at rs6776158 may predispose to calcium stones by decreasing transcriptional activity of the CaSR gene promoter 1 and CaSR expression in kidney tubules.
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