|
rs1293789661
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with early-onset primary aldosteronism carried the CLCN2 variant found in the proband.
|
29403011 |
2018 |
|
rs1293789661
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1553853557
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1553856214
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1553857113
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs758379595
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs786205050
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs746967306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the four PA mutations caused more profound changes on Ca<sub>V</sub>3.2 (+26) currents than on Ca<sub>V</sub>3.2 (-26) currents, and except the M1549I mutation, the S196 L, V1951E and P2083 L have little effect on the electrophysiological properties of Ca<sub>V</sub>3.2(-26) currents, which may partially explain the limitation of the phenotype associated with the V1951E, S196 L and P2083 L germline mutations to PA.
|
31706065 |
2019 |
|
rs1085307938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel <sup>1</sup> , in a patient diagnosed at 9 years of age.
|
29403012 |
2018 |
|
rs866674368
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel <sup>1</sup> , in a patient diagnosed at 9 years of age.
|
29403012 |
2018 |
|
rs3772616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The AGTR1 rs3772616 polymorphism can be considered as a hereditary marker for primary aldosteronism, and in the Chinese Han population the rs5193 G allele seems to predispose to it only in women.
|
25172908 |
2015 |
|
rs11221497
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five common single nucleotide polymorphisms (SNPs) of the KCNJ5 gene (rs6590357, rs4937391, rs3740835, rs2604204, and rs11221497) were detected in patients with sporadic PA (n = 235) and essential hypertension (EH; n=913) by the TaqMan polymerase chain reaction method.
|
23382865 |
2013 |
|
rs1161255880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples.
|
23778974 |
2013 |
|
rs1187880216
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples.
|
23778974 |
2013 |
|
rs12410453
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of rs12410453 A allele in HSD3β2 gene [odds ratio (OR) 1.92, 95% confidence interval (CI) 1.13-3.32, P=0.018] and rs6203 C allele in the HSD3β1 gene (OR 2.21, 95% CI 1.28-3.95, P=0.006) showed significant association with primary aldosteronism, with corresponding population attributable risk of 6.7 and 30.7%, respectively.
|
24006038 |
2013 |
|
rs2604204
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic variant rs2604204 of KCNJ5 is associated with sporadic PA in Chinese males, suggesting that KCNJ5 may be involved in the pathogenesis of sporadic PA in these particular patients.
|
23382865 |
2013 |
|
rs3740835
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The EH group and the PA group showed significant differences in the distributions of genotypes and alleles of rs4937391 and rs2604204 in total and male subjects (P<0.05), as well as rs3740835 in male subjects (P<0.05).
|
23382865 |
2013 |
|
rs374206521
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples.
|
23778974 |
2013 |
|
rs386352318
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples.
|
23778974 |
2013 |
|
rs386352319
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples.
|
23778974 |
2013 |
|
rs4937391
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The EH group and the PA group showed significant differences in the distributions of genotypes and alleles of rs4937391 and rs2604204 in total and male subjects (P<0.05), as well as rs3740835 in male subjects (P<0.05).
|
23382865 |
2013 |
|
rs6203
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of rs12410453 A allele in HSD3β2 gene [odds ratio (OR) 1.92, 95% confidence interval (CI) 1.13-3.32, P=0.018] and rs6203 C allele in the HSD3β1 gene (OR 2.21, 95% CI 1.28-3.95, P=0.006) showed significant association with primary aldosteronism, with corresponding population attributable risk of 6.7 and 30.7%, respectively.
|
24006038 |
2013 |
|
rs2241766
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic analysis of T45G and G276T adiponectin gene polymorphisms showed that, while the genotypes 45G/G+G/T seemed to have a protective role on the metabolic complications, the genotype 276T/T defined PA and EH patients with a worse metabolic profile.
|
19481913 |
2010 |
|
rs57920071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Conclusions This R482W-LMNA mutated patient showed an association of features (primary hyperaldosteronism, euthyroid goiter and extra-pyramidal syndrome, raising the question of a link with her laminopathy.
|
17524034 |
2007 |
|
rs151052374
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study we investigated the presence of the mutation D147E of CYP11B2 in a group of 128 patients with primary aldosteronism, 68 patients with essential hypertension and increased corticosterone production and in 48 normal volunteers.
|
11275950 |
2001 |