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rs11549467
|
|
Squamous cell carcinoma of the head and neck
|
|
0.010 |
GeneticVariation
|
BEFREE |
We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients.
|
12919954 |
2003 |
|
rs11549465
|
|
Squamous cell carcinoma of the head and neck
|
|
0.010 |
GeneticVariation
|
BEFREE |
We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients.
|
12919954 |
2003 |
|
rs11549465
|
|
Malignant Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
The P582S HIF-1alpha is a stable variant and HIF-1alpha mutation is a mechanism for enhancing HIF-1alpha activity in human cancer.
|
15538748 |
2005 |
|
rs11549465
|
|
Primary malignant neoplasm
|
|
0.050 |
GeneticVariation
|
BEFREE |
The P582S HIF-1alpha is a stable variant and HIF-1alpha mutation is a mechanism for enhancing HIF-1alpha activity in human cancer.
|
15538748 |
2005 |
|
rs11549465
|
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent identification of the identical P582S HIF-1alpha as a polymorphism suggests that this variant may increase tumor susceptibility or cause more aggressive biological behavior.
|
15538748 |
2005 |
|
rs11549465
|
|
Neoplasm Metastasis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Pro582Ser change in HIF-1alpha was detected in six patients (11%) and was positively correlated with the development of metastases (P=0.023).
|
15809750 |
2005 |
|
rs11549465
|
|
Secondary Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Pro582Ser change in HIF-1alpha was detected in six patients (11%) and was positively correlated with the development of metastases (P=0.023).
|
15809750 |
2005 |
|
rs11549465
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
This is the first report that HIF-1alpha is associated with the occurrence of type 2 diabetes and suggests that the P582S HIF-1alpha mutation should be assessed in larger studies as a risk factor for type 2 diabetes.
|
16046581 |
2005 |
|
rs11549465
|
|
Retinal Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
The P582S HIF-1alpha mutation was associated with type 2 diabetes (P = 0.0028) by a consistently higher level of transcriptional activity than wild type, especially under hypoxic condition (P = 0.012), but no association with retinopathy was detected.
|
16046581 |
2005 |
|
rs11549465
|
|
Malignant neoplasm of prostate
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our data suggest that homozygous HIF1A P582S mutation confers significant susceptibility to prostate cancer.
|
16998808 |
2007 |
|
rs11549465
|
|
Prostate carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Our data suggest that homozygous HIF1A P582S mutation confers significant susceptibility to prostate cancer.
|
16998808 |
2007 |
|
rs11549467
|
|
Malignant neoplasm of prostate
|
|
0.040 |
GeneticVariation
|
BEFREE |
No significant differences were found between the frequencies of A588T mutation in prostate cancer patients and controls.
|
16998808 |
2007 |
|
rs11549467
|
|
Prostate carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
No significant differences were found between the frequencies of A588T mutation in prostate cancer patients and controls.
|
16998808 |
2007 |
|
rs763538721
|
|
melanoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Our data show for the first time that BRAF(V600E) mutation increases HIF-1alpha expression and melanoma cell survival under hypoxic conditions and suggest that effects of the oncogenic V600E BRAF mutation may be partially mediated through the HIF-1alpha pathway.
|
17409425 |
2007 |
|
rs11549467
|
|
androgen independent prostate cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neither the P582S nor the A588T polymorphism was associated with risk of overall or metastatic/fatal CaP.
|
17624927 |
2007 |
|
rs11549465
|
|
androgen independent prostate cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, we found that, among men with the homozygous CC wild-type (but not CT/TT) of the HIF-1alpha P582S, higher IGFBP-3 levels (>/= vs. <median) were associated with a 28% (95% CI, 0.55-0.95; P(interaction) = 0.01) lower risk of overall CaP and a 53% (0.25-0.88; P(interaction) = 0.11) lower risk of metastatic and fatal CaP.
|
17624927 |
2007 |
|
rs41508050
|
|
Exercise-induced angina
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three polymorphisms in HIF1A (Pro582Ser, rs11549465; rs1087314; and Thr418Ile, rs41508050) were significantly more common in patients who presented with stable exertional angina rather than acute MI, even after statistical adjustment for cardiac risk factors and medications.
|
18035072 |
2007 |
|
rs41508050
|
|
Acute myocardial infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three polymorphisms in HIF1A (Pro582Ser, rs11549465; rs1087314; and Thr418Ile, rs41508050) were significantly more common in patients who presented with stable exertional angina rather than acute MI, even after statistical adjustment for cardiac risk factors and medications.
|
18035072 |
2007 |
|
rs11549465
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our findings support the hypothesis that the HIF-1Alpha P582S variant may confer susceptibility to subgroups of breast cancer in Korean women.
|
18160046 |
2008 |
|
rs11549465
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our findings support the hypothesis that the HIF-1Alpha P582S variant may confer susceptibility to subgroups of breast cancer in Korean women.
|
18160046 |
2008 |
|
rs11549465
|
|
Malignant neoplasm of prostate
|
|
0.060 |
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
|
|
Malignant neoplasm of prostate
|
|
0.040 |
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
|
|
Renal Cell Carcinoma
|
|
0.030 |
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
|
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
|
0.030 |
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
|
|
Renal Cell Carcinoma
|
|
0.030 |
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 |