Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Epidemiological studies observed that calcium nephrolithiasis was associated with polymorphisms of the CaSR gene regulatory region, rs6776158, located within the promoter-1, rs1501899 located in the intron 1, and rs7652589 in the 5'-untranslated region.
|
30446806 |
2019 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our study showed that CaSR rs7652589 polymorphism had a significant effect on the risk of developing calcium nephrolithiasis in the population of Yi nationality in Southwestern China.
|
29682741 |
2018 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two SNPs in CaSR were genotyped using the TaqMan assay.We found that subjects carrying the G allele of rs6776158 (AG and GG) had significantly higher risk of nephrolithiasis compared to the AA genotype (P = .015 and .009, respectively).Our results indicate that rs6776158 polymorphism that might elevate the risk of nephrolithiasis in the Chinese population.
|
30407299 |
2018 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results provide evidences that the CaSR Arg990Gly polymorphism is associated with the risk of nephrolithiasis development in a Chinese population.
|
28609763 |
2017 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients.
|
27739473 |
2016 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the simultaneous presence of the minor allele at rs1501899 and Arg990Gly may amplify the kidney stone risk in PHPT patients, despite their apparently opposite effects on CASR function in the kidney.
|
24832896 |
2015 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identify sequence variants associating with kidney stones at ALPL (rs1256328[T], odds ratio (OR)=1.21, P=5.8 × 10(-10)) and a suggestive association at CASR (rs7627468[A], OR=1.16, P=2.0 × 10(-8)).
|
26272126 |
2015 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Common and rare variants associated with kidney stones and biochemical traits.
|
26272126 |
2015 |
Kidney Calculi
|
0.200 |
Biomarker
|
disease |
BEFREE |
This study aimed to evaluate the association between genetic defects in vitamin D receptor (VDR), calcium sensing receptor (CaSR) and claudin 14 (CLDN14) genes and kidney stone disease in patients from eastern India.
|
26107257 |
2015 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic population studies tested the association of common allelic CASR variants with serum and urine calcium levels, kidney stone disease, primary hyperparathyroidism and bone mineral density.
|
24992569 |
2014 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We tested SNPs in the CaSR gene regulatory region associated with calcium nephrolithiasis and their effects in kidney.
|
23864702 |
2013 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The nonconservative CaSR gene Arg990Gly polymorphism was associated with nephrolithiasis and hypercalciuria in different populations.
|
22660550 |
2012 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis.
|
21966463 |
2011 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms located in the regulatory region of the CASR gene may increase susceptibility of the PHPT patients to kidney stone production.
|
21183554 |
2011 |
Kidney Calculi
|
0.200 |
Biomarker
|
disease |
BEFREE |
Calcium-sensing receptor and calcium kidney stones.
|
22107799 |
2011 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SNPs and CATTCA haplotype of the CaSR gene first block is associated with kidney stones in normocitraturic patients.
|
20067903 |
2010 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Some studies have identified an association of kidney stone formation with vitamin D receptor (VDR) or calcium-sensing receptor (CaSR) polymorphisms.
|
19887834 |
2010 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneous disease modeling for Hardy-Weinberg disequilibrium in case-control studies: application to renal stones and calcium-sensing receptor polymorphisms.
|
19133942 |
2009 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia.
|
18446382 |
2009 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrolithiasis, is due to mutations of the chloride/proton antiporter, CLC-5; ADHH is associated with activating mutations of the calcium-sensing receptor, which is a G protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate cotransporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia.
|
17872384 |
2007 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor.
|
17018660 |
2007 |
Kidney Calculi
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study shows that genetic variants of the CaR gene are not associated with idiopathic hypercalciuria and calcium nephrolithiasis in this population of French Canadians.
|
10886547 |
2000 |