|
rs7652589
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A minor alleles at these two SNPs were more frequent in stone forming (n=157) than in stone-free (n=175) PHPT patients (rs7652589: 36.9 vs 27.1%, P=0.007; rs1501899: 37.1 vs 26.4%, P=0.003).
|
21183554 |
2011 |
|
rs1485866385
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A protein-stabilizing mutation in exon 3 of beta-catenin (S37A) was detected in three of 20 pHPT tumors (15%).
|
17047023 |
2007 |
|
rs202199891
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A genetic variant in the APC gene co-segregating with PHPT (p.Val530Ala) was detected in a family whose affected relatives had additional tumors, including colonic polyposis.
|
31486992 |
2020 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Pancreatitis in primary hyperparathyroidism is not associated with mutations in the CASR gene, while it remains to be determined why the polymorphisms A986S, R990G and Q1011E were less often present in that subgroup than in the normal population.
|
17853337 |
2007 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The intention of this study was therefore to investigate the frequency of the described calcium-sensing receptor variants A986S, R990G and Q1011E in patients with primary hyperparathyroidism to test the hypothesis as to whether these variants represent risk factors for the development of primary hyperparathyroidism.
|
11580999 |
2001 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The aim of the present study was to investigate the frequency of this and other 2 known CaR polymorphisms (R990G and Q1011 E) in patients with PHPT and their effect on its phenotype.
|
12150336 |
2003 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
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 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The present study is the first to show that CaR polymorphisms of G990R and intron 5 were closely associated with the magnitude of PTH secretion and/or PTH degradation as well as the clinical severity in pHPT patients.
|
11589681 |
2001 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism.
|
17062884 |
2006 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our results indicate that SNPs of CASR gene A986S (rs1081725) and R990G (rs1042636) may increase the risk of PHPT, and the polymorphisms can potentially be used as important biological markers for early diagnosis of PHPT.
|
26710757 |
2016 |
|
rs1042636
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The R990G polymorphism is most frequently present in the Chinese population and among patients with PHPT.
|
23946278 |
2013 |
|
rs1801725
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We conducted meta-analyses for calcium-sensing receptor gene (CaSR) rs1801725 polymorphism in patients with primary hyperparathyroidism and vitamin D receptor gene (VDR) rs1544410 polymorphism in patients with end-stage renal disease (ESRD).
|
29794776 |
2018 |
|
rs1801725
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism.
|
11580999 |
2001 |
|
rs1801725
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our results indicate that SNPs of CASR gene A986S (rs1081725) and R990G (rs1042636) may increase the risk of PHPT, and the polymorphisms can potentially be used as important biological markers for early diagnosis of PHPT.
|
26710757 |
2016 |
|
rs1801725
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Pancreatitis in primary hyperparathyroidism is not associated with mutations in the CASR gene, while it remains to be determined why the polymorphisms A986S, R990G and Q1011E were less often present in that subgroup than in the normal population.
|
17853337 |
2007 |
|
rs1801725
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The purpose of this study was to investigate the distribution of the A986S and R990G polymorphisms of the calcium-sensing receptor (CASR) gene in the Chinese population and whether there is an association between genetic variants and the risk of developing primary hyperparathyroidism (PHPT) and its associated clinical phenotypes.
|
23946278 |
2013 |
|
rs1801725
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The A986S CaR polymorphism is the most common in Italian PHPT patients and the allotype AS does not appear to play a relevant role in the pathogenesis of PHPT and its severity.
|
12150336 |
2003 |
|
rs1801726
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To evaluate the frequency of three polymorphisms; A986S, R990G, and Q1011E of CaSR in patients with PHPT and to correlate the genotypes with clinical and biochemical parameters.
|
17062884 |
2006 |
|
rs1801726
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Pancreatitis in primary hyperparathyroidism is not associated with mutations in the CASR gene, while it remains to be determined why the polymorphisms A986S, R990G and Q1011E were less often present in that subgroup than in the normal population.
|
17853337 |
2007 |
|
rs1801726
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The intention of this study was therefore to investigate the frequency of the described calcium-sensing receptor variants A986S, R990G and Q1011E in patients with primary hyperparathyroidism to test the hypothesis as to whether these variants represent risk factors for the development of primary hyperparathyroidism.
|
11580999 |
2001 |
|
rs1801726
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our meta-analysis results showed that single nucleotide polymorphisms (SNPs) of CASR gene A986S (rs1081725) and R990G (rs1042636), but not Q1011E (rs1801726), may increase the risk of PHPT [A986S (rs1081725): allele model: P = 0.013; dominant model: P = 0.044; R990G (rs1042636): allele model: P = 0.023; dominant model: P = 0.026)].
|
26710757 |
2016 |
|
rs756322971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our meta-analysis results showed that single nucleotide polymorphisms (SNPs) of CASR gene A986S (rs1081725) and R990G (rs1042636), but not Q1011E (rs1801726), may increase the risk of PHPT [A986S (rs1081725): allele model: P = 0.013; dominant model: P = 0.044; R990G (rs1042636): allele model: P = 0.023; dominant model: P = 0.026)].
|
26710757 |
2016 |
|
rs756322971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The intention of this study was therefore to investigate the frequency of the described calcium-sensing receptor variants A986S, R990G and Q1011E in patients with primary hyperparathyroidism to test the hypothesis as to whether these variants represent risk factors for the development of primary hyperparathyroidism.
|
11580999 |
2001 |
|
rs756322971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Pancreatitis in primary hyperparathyroidism is not associated with mutations in the CASR gene, while it remains to be determined why the polymorphisms A986S, R990G and Q1011E were less often present in that subgroup than in the normal population.
|
17853337 |
2007 |
|
rs756322971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To evaluate the frequency of three polymorphisms; A986S, R990G, and Q1011E of CaSR in patients with PHPT and to correlate the genotypes with clinical and biochemical parameters.
|
17062884 |
2006 |