|
rs1042636
|
|
Psoriasis
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.
|
25854761 |
2015 |
|
rs1042636
|
|
Hyperparathyroidism, Primary
|
|
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
|
|
Hyperparathyroidism, Primary
|
|
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
|
|
Hyperparathyroidism, Primary
|
|
0.080 |
GeneticVariation
|
BEFREE |
The R990G polymorphism is most frequently present in the Chinese population and among patients with PHPT.
|
23946278 |
2013 |
|
rs1042636
|
|
Hyperparathyroidism, Primary
|
|
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
|
|
Hyperparathyroidism, Primary
|
|
0.080 |
GeneticVariation
|
BEFREE |
R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism.
|
17062884 |
2006 |
|
rs1042636
|
|
Hyperparathyroidism, Primary
|
|
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
|
|
Hyperparathyroidism, Primary
|
|
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
|
|
Hyperparathyroidism, Primary
|
|
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
|
|
Kidney Calculi
|
|
0.060 |
GeneticVariation
|
BEFREE |
Activating rs1042636 polymorphism located in exon 7 was associated with calcium nephrolithiasis and hypercalciuria.
|
30446806 |
2019 |
|
rs1042636
|
|
Nephrolithiasis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Activating rs1042636 polymorphism located in exon 7 was associated with calcium nephrolithiasis and hypercalciuria.
|
30446806 |
2019 |
|
rs1042636
|
|
Nephrolithiasis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our results provide evidences that the CaSR Arg990Gly polymorphism is associated with the risk of nephrolithiasis development in a Chinese population.
|
28609763 |
2017 |
|
rs1042636
|
|
Kidney Calculi
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our results provide evidences that the CaSR Arg990Gly polymorphism is associated with the risk of nephrolithiasis development in a Chinese population.
|
28609763 |
2017 |
|
rs1042636
|
|
Kidney Calculi
|
|
0.060 |
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
|
|
Kidney Calculi
|
|
0.060 |
GeneticVariation
|
BEFREE |
In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India.
|
26107257 |
2015 |
|
rs1042636
|
|
Nephrolithiasis
|
|
0.060 |
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
|
|
Nephrolithiasis
|
|
0.060 |
GeneticVariation
|
BEFREE |
In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India.
|
26107257 |
2015 |
|
rs1042636
|
|
Kidney Calculi
|
|
0.060 |
GeneticVariation
|
BEFREE |
The activating Arg990Gly polymorphism may predispose to nephrolithiasis by increasing calcium excretion.
|
22660550 |
2012 |
|
rs1042636
|
|
Nephrolithiasis
|
|
0.060 |
GeneticVariation
|
BEFREE |
The activating Arg990Gly polymorphism may predispose to nephrolithiasis by increasing calcium excretion.
|
22660550 |
2012 |
|
rs1042636
|
|
Nephrolithiasis
|
|
0.060 |
GeneticVariation
|
BEFREE |
In PHPT patients, only R990G polymorphism was associated with disease parameters; in comparison with R/R, R/G+G/G patients showed lower mean serum parathyroid hormone (PTH) and phosphate levels (139.9 +/- 62.2 vs 199.9 +/- 136.3 pg/ml, P < 0.05 and 0.69 +/- 0.12 vs 0.81 +/- 0.18 mmol/l, P = 0.031 respectively), higher mean 24-h urine calcium concentration and calcium excretion (9.05 +/- 2.05 vs 6.77 +/- 4.31 mmol/24 h, P = 0.012 and 67 +/- 20 vs 51 +/- 26 mumol/l GF, P = 0.039), and increased prevalence of nephrolithiasis (90.0 vs 44.2%, P = 0.007).
|
17062884 |
2006 |
|
rs1042636
|
|
Kidney Calculi
|
|
0.060 |
GeneticVariation
|
BEFREE |
In PHPT patients, only R990G polymorphism was associated with disease parameters; in comparison with R/R, R/G+G/G patients showed lower mean serum parathyroid hormone (PTH) and phosphate levels (139.9 +/- 62.2 vs 199.9 +/- 136.3 pg/ml, P < 0.05 and 0.69 +/- 0.12 vs 0.81 +/- 0.18 mmol/l, P = 0.031 respectively), higher mean 24-h urine calcium concentration and calcium excretion (9.05 +/- 2.05 vs 6.77 +/- 4.31 mmol/24 h, P = 0.012 and 67 +/- 20 vs 51 +/- 26 mumol/l GF, P = 0.039), and increased prevalence of nephrolithiasis (90.0 vs 44.2%, P = 0.007).
|
17062884 |
2006 |
|
rs1042636
|
|
Urolithiasis
|
|
0.020 |
GeneticVariation
|
BEFREE |
To evaluate the association between calcium-sensing receptor (CaSR) Arg990Gly (rs1042636, A > G), Ala986Ser (rs1801725, G > T) polymorphisms, and urolithiasis risk.
|
28609763 |
2017 |
|
rs1042636
|
|
Urolithiasis
|
|
0.020 |
GeneticVariation
|
BEFREE |
This meta-analysis revealed that the G allele of CaSR R990G polymorphism increases susceptibility to urolithiasis and hypercalciuria.
|
25705702 |
2015 |
|
rs1042636
|
|
Kidney Failure, Chronic
|
|
0.020 |
GeneticVariation
|
BEFREE |
We genotyped the CaSR R990G and Q1011E variants in 192 end-stage renal disease (ESRD) patients by allele-specific PCR.
|
19640368 |
2009 |
|
rs1042636
|
|
Chronic kidney disease stage 5
|
|
0.020 |
GeneticVariation
|
BEFREE |
We genotyped the CaSR R990G and Q1011E variants in 192 end-stage renal disease (ESRD) patients by allele-specific PCR.
|
19640368 |
2009 |