|
rs2073618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found no differences between genotypes of the OPG rs2073618 (1181 G/C) SNP with regard to BMD in the PHPT subjects.
|
22185226 |
2011 |
|
rs1544410
|
|
|
0.010 |
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 |
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 |
|
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 |
|
rs1501899
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two single-nucleotide polymorphisms (SNPs) at the calcium-sensing receptor (CASR) gene were previously associated with kidney stones in patients with primary hyperparathyroidism (PHPT): rs1501899, likely associated with a decrease in CASR expression, and Arg990Gly, causing a gain of CASR function.
|
24832896 |
2015 |
|
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 |
|
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 |
|
rs111033565
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
|
18076731 |
2008 |
|
rs267606982
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
|
18076731 |
2008 |
|
rs397508687
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
|
18076731 |
2008 |
|
rs76371115
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
|
18076731 |
2008 |
|
rs775437927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
|
18076731 |
2008 |
|
rs111033566
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
|
18076731 |
2008 |
|
rs1451011538
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
|
18076731 |
2008 |
|
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 |
|
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 |
|
rs77724903
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The key to diagnosis was recurrent HPT in a young male carrying RET mutation Y791F, a mutation not likely to give rise to recurrent HPT.
|
15870131 |
2005 |
|
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 |
|
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 |
|
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 |
|
rs61734277
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aims of the study were to 1) assess the frequency of Y282D in Italian primary hyperparathyroidism (PHPT) and control (C) populations, 2) test for association of 282D with PHPT and its phenotypic features, and 3) compare the transactivation potency of GCM2 282D relative to wild-type Y282.
|
25279501 |
2014 |
|
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 |
|
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 |
|
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 |
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 |