Evidence map›Paper›PMID 36088585›Full record

ArticleUrolithiasis2022

Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.

Fahmy T Ali, Eman M Abd El-Azeem, Hala F A Hekal, Mayada M El-Gizawy, Mohamed S Sayed, AbdAllah Y Mandoh, Ahmed F Soliman

Open access · hybridAbstract read
In one paragraph

Article in Urolithiasis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Review
  3. miR-148b-5p regulates hypercalciuria and calcium-containing nephrolithiasis.Cellular and molecular life sciences : CMLS · 2024
    Article
  4. Article
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Fahmy T AliBiochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt.
Eman M Abd El-AzeemBiochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt.
Hala F A HekalBiochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt.
Mayada M El-GizawyMedical Physiology Department, Medical Research Institute, National Research Centre, Giza, Egypt.
Mohamed S SayedUrology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
AbdAllah Y MandohMolecular Biology and Cytogenetics Department, Armed Forces Laboratories of Medical Research and Blood Bank, Cairo, Egypt.
Ahmed F SolimanBiochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt. ahmed.fathi@sci.asu.edu.eg.
Ain Shams University · EGArmed Forces College of Medicine · EGNational Research Centre · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kidney stone disease (KSD) represents an urgent medical problem because of increasing its prevalence. Several functional polymorphisms in genes involved in the renal handling of calcium were associated with KSD pathogenesis. Among those, the rs4236480 of transient receptor potential vanilloid member 5 (TRPV5) gene, the rs1801725 of calcium-sensing receptor (CASR) gene, and the rs1801197 of calcitonin receptor (CALCR) gene appear to be of great importance. Due to the scarce data on the Egyptians, this study aimed to evaluate the association of these candidate genetic variants with the risk of developing KSD in an Egyptian population. To do so, the biochemical parameters were measured along with the genotyping of the three polymorphisms using allelic discrimination assay in 134 KSD patients and 86 age and sex-matched healthy subjects. The results showed that the genotypic distributions and allelic frequencies of the studied variants were significantly different between cases and controls. The three polymorphisms increased the risk of KSD significantly under all the tested genetic models (OR ranges from 2.152 to 5.994), except for the recessive model of the CALCR rs1801197 polymorphism after Bonferroni correction. The gene-gene interaction analyzed by multifactor dimensionality reduction selected the three-locus combination as the best model associated with the susceptibility to KSD with OR 9.706. Further, synergistic interactions were identified between TRPV5 rs4236480 and CALCR rs1801197 variants and CASR rs1801725 and CALCR rs1801197 variants. In conclusion, the TRPV5 rs4236480, CASR rs1801725, and CALCR rs1801197 polymorphisms showed a significant association with the risk of KSD in the Egyptian population. Furthermore, their complex interactions might have an impact on the genetic susceptibility to develop KSD.

Indexed as

Kidney CalculiReceptors, Calcium-SensingCalciumEgyptGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideReceptors, CalcitoninTRPV Cation ChannelsCalciumCASR protein, humanReceptors, CalcitoninReceptors, Calcium-SensingTRPV5 protein, humanTRPV Cation ChannelsCalcitonin receptor (CALCR)Calcium-sensing receptor (CASR)Kidney stone disease (KSD)Single nucleotide polymorphism (SNP)Transient receptor potential vanilloid member 5 (TRPV5)

Identifiers

PMID36088585
PMCPMC9584976
OpenAlexW4295203188

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Registered trials

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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.