|
rs11549467
|
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers.
|
18949419 |
2008 |
|
rs11549465
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
These results suggest the potential use of C1772T (P582S) polymorphism and expression analysis in providing a new prognostic factor for unfavorable disease outcomes and may help for clinical decision-making in the treatment of breast cancer patients.
|
18949419 |
2008 |
|
rs11549465
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
These results suggest the potential use of C1772T (P582S) polymorphism and expression analysis in providing a new prognostic factor for unfavorable disease outcomes and may help for clinical decision-making in the treatment of breast cancer patients.
|
18949419 |
2008 |
|
rs11549467
|
|
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers.
|
18949419 |
2008 |
|
rs11549465
|
|
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers.
|
18949419 |
2008 |
|
rs11549467
|
|
Eclampsia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here we studied whether two single nucleotide sequence variants, c.1744 C>T that changes residue 582 of HIF-1alpha from proline to serine (P582S) and c.1762 G>A that changes residue 588 of HIF-1alpha from alanine to threonine (A588T) in the exon 12 of the HIF1A gene, are associated with pre-eclampsia.
|
18980686 |
2008 |
|
rs11549465
|
|
Eclampsia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here we studied whether two single nucleotide sequence variants, c.1744 C>T that changes residue 582 of HIF-1alpha from proline to serine (P582S) and c.1762 G>A that changes residue 588 of HIF-1alpha from alanine to threonine (A588T) in the exon 12 of the HIF1A gene, are associated with pre-eclampsia.
|
18980686 |
2008 |
|
rs11549467
|
|
Malignant neoplasm of lung
|
|
0.040 |
GeneticVariation
|
BEFREE |
In this study, we have investigated the relationship between seven HIF-1alphapolymorphisms [C > T substitution in intron 8 (rs10873142), T418I (rs41508050) in exon 10, P564P (rs41492849), L580L (rs34005929), P582S (rs11549465), A588T (rs11549467) in exon 12 and dinucleotide GT repeats in intron 13 (rs10645014)] among lung cancer patients in the Turkish population.
|
19546348 |
2009 |
|
rs11549467
|
|
Carcinoma of lung
|
|
0.030 |
GeneticVariation
|
BEFREE |
In this study, we have investigated the relationship between seven HIF-1alphapolymorphisms [C > T substitution in intron 8 (rs10873142), T418I (rs41508050) in exon 10, P564P (rs41492849), L580L (rs34005929), P582S (rs11549465), A588T (rs11549467) in exon 12 and dinucleotide GT repeats in intron 13 (rs10645014)] among lung cancer patients in the Turkish population.
|
19546348 |
2009 |
|
rs11549467
|
|
Primary malignant neoplasm of lung
|
|
0.030 |
GeneticVariation
|
BEFREE |
In this study, we have investigated the relationship between seven HIF-1alphapolymorphisms [C > T substitution in intron 8 (rs10873142), T418I (rs41508050) in exon 10, P564P (rs41492849), L580L (rs34005929), P582S (rs11549465), A588T (rs11549467) in exon 12 and dinucleotide GT repeats in intron 13 (rs10645014)] among lung cancer patients in the Turkish population.
|
19546348 |
2009 |
|
rs11549465
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recently a non synonymous single nucleotide polymorphism (g.C45035T SNP, rs11549465) of HIF-1alpha gene, resulting in the p.P582S amino acid change has been shown to be associated with type 2 diabetes (T2DM) in a Japanese population.
|
19691832 |
2009 |
|
rs748620045
|
|
Osteitis Deformans
|
|
0.010 |
GeneticVariation
|
BEFREE |
They also suggest that the SQSTM1 P392L mutation plays a role in PDB pathogenesis, even at early preclinical stages in healthy carriers of the P392L mutation.
|
19925894 |
2010 |
|
rs11549465
|
|
Giant Cell Arteritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The HIF-1alpha, rs11549465 TT genotype was extremely uncommon in both GCA patients (2.3%) and controls (2.1%).
|
20412701 |
2010 |
|
rs1430452530
|
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here, we identify Scgb3a1 as a direct HIF-2alpha target gene and demonstrate that HIF-2alpha regulates Scgb3a1 expression and tumor formation in human Kras(G12D)-driven NSCLC cells.
|
20660313 |
2010 |
|
rs1430452530
|
|
Non-Small Cell Lung Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To investigate the consequences of inhibiting HIF activity in lung cancers, we deleted Hif-1alpha or Hif-2alpha in an established Kras(G12D)-driven murine NSCLC model.
|
20660313 |
2010 |
|
rs1430452530
|
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
To investigate the consequences of inhibiting HIF activity in lung cancers, we deleted Hif-1alpha or Hif-2alpha in an established Kras(G12D)-driven murine NSCLC model.
|
20660313 |
2010 |
|
rs11549467
|
|
Peripheral Arterial Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Similarly, HIF1A A588T genotype frequencies did not differ significantly between PAD patients (AA 95.9%; AT 4.1%) and control subjects (AA 96.8%; AT 3.2%; p = 0.28).
|
20926496 |
2010 |
|
rs11549465
|
|
Peripheral Arterial Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a multivariate logistic regression analysis including age, sex, smoking, diabetes, arterial hypertension and hypercholesterolemia, neither the HIF1A P582S polymorphism (odds ratio: 1.26; 95% confidence interval 0.92-1.74; p = 0.16) nor the A588T polymorphism (odds ratio: 1.17; 95% confidence interval 0.59-2.35; p = 0.66) was significantly associated with the presence of PAD.
|
20926496 |
2010 |
|
rs11549467
|
|
Malignant neoplasm of lung
|
|
0.040 |
GeneticVariation
|
BEFREE |
The roles of the polymorphic HIF-1α variants, C1772T (P582S) and G1790A (A588T), which are known to enhance transcriptional activity, were evaluated in lung cancers.
|
21435097 |
2011 |
|
rs11549465
|
|
Malignant neoplasm of lung
|
|
0.020 |
GeneticVariation
|
BEFREE |
The roles of the polymorphic HIF-1α variants, C1772T (P582S) and G1790A (A588T), which are known to enhance transcriptional activity, were evaluated in lung cancers.
|
21435097 |
2011 |
|
rs11549467
|
|
Renal Cell Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
We genotyped four potentially functional single-nucleotide polymorphisms (rs779805 in VHL and rs11549465, rs11549467, and rs2057482 in HIF1A) and assessed their associations with RCC risk, clinicopathologic parameters in a case-control study of 620 patients and 623 controls, and the prognosis of RCC in a cohort of 311 patients.
|
21778301 |
2012 |
|
rs2057482
|
|
Renal Cell Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We genotyped four potentially functional single-nucleotide polymorphisms (rs779805 in VHL and rs11549465, rs11549467, and rs2057482 in HIF1A) and assessed their associations with RCC risk, clinicopathologic parameters in a case-control study of 620 patients and 623 controls, and the prognosis of RCC in a cohort of 311 patients.
|
21778301 |
2012 |
|
rs11549465
|
|
Myocardial Ischemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The findings indicate not any significant association between collateral formation and polymorphic variants of HIF-1A and P582S substitution does not appear to influence the collateral formation in patients with myocardial ischemia.
|
21945026 |
2011 |
|
rs11549465
|
|
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The findings indicate not any significant association between collateral formation and polymorphic variants of HIF-1A and P582S substitution does not appear to influence the collateral formation in patients with myocardial ischemia.
|
21945026 |
2011 |
|
rs11549467
|
|
Eclampsia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We determined whether maternal blood c.1722C>T (Pro582Ser) and c.1790G>A (Ala588Thr) polymorphisms in exon 12 of the HIF-1α gene are associated with pre-eclampsia.
|
21979130 |
2012 |