|
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 |
|
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 |
|
rs1081725
|
|
|
0.010 |
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 |
|
rs146646971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
None of the K666N DNA variant carriers had evidence of primary hyperparathyroidism or pheochromocytoma.
|
27673361 |
2016 |
|
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 |
|
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 |
|
rs121909293
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, it only indicates that the CTRC (p.R254W) mutation might also contribute to the panel of mutations ( SPINK1 and CFTR) that have been formerly reported to elevate pancreatitis susceptibility in pHPT.
|
20625975 |
2011 |
|
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 |
|
rs3102735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels.
|
22185226 |
2011 |
|
rs3134070
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels.
|
22185226 |
2011 |
|
rs61734659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PRSS2 (p.G191R) mutation was present in 1 patient with pancreatitis (3.2%) and in 6 pHPT controls (6%) (P=1).
|
20625975 |
2011 |
|
rs748405415
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PRSS2 (p.G191R) mutation was present in 1 patient with pancreatitis (3.2%) and in 6 pHPT controls (6%) (P=1).
|
20625975 |
2011 |
|
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 |
|
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 |
|
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 |
|
rs1223231582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population).
|
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 |
|
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 |
|
rs777418530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population).
|
18076731 |
2008 |
|
rs121913228
|
|
|
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 |
|
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 |
|
rs74799832
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype.
|
16865647 |
2006 |