|
rs763538721
|
|
Tumor Cell Invasion
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRAF (V600E) causes upregulation of tissue inhibitor of metalloproteinase-1 (TIMP-1), which promotes cell invasion in papillary thyroid carcinoma (PTC).
|
23893334 |
2013 |
|
rs11549467
|
|
Malignant Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
Compared with rs11549467 GG genotype, the variant genotypes GA+AA had a significantly increased PCa risk (adjusted odds ratio (OR)=1.70; 95% confidence interval (CI)=1.06-2.72), particularly among older patients (OR=2.01; 95%CI=1.05-3.86), smokers (OR=2.06; 95%CI=1.07-3.99), never drinkers (OR=2.16; 95%CI=1.20-3.86) and patients without a family history of cancer (OR=1.71; 95%CI=1.02-2.89).
|
23042446 |
2012 |
|
rs11549467
|
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Compared with rs11549467 GG genotype, the variant genotypes GA+AA had a significantly increased PCa risk (adjusted odds ratio (OR)=1.70; 95% confidence interval (CI)=1.06-2.72), particularly among older patients (OR=2.01; 95%CI=1.05-3.86), smokers (OR=2.06; 95%CI=1.07-3.99), never drinkers (OR=2.16; 95%CI=1.20-3.86) and patients without a family history of cancer (OR=1.71; 95%CI=1.02-2.89).
|
23042446 |
2012 |
|
rs763538721
|
|
melanoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
ETV1 expression is a rare event in human melanoma and seems to be rather based on hyperactivation of MAPK signals, by BRAF (V600E) mutation, than on ETV1 gene amplification.
|
25073704 |
2014 |
|
rs763538721
|
|
Thyroid Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis.
|
30768848 |
2019 |
|
rs763538721
|
|
Thyroid carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis.
|
30768848 |
2019 |
|
rs763538721
|
|
Malignant neoplasm of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis.
|
30768848 |
2019 |
|
rs779702949
|
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, mice injected with cells expressing mutant HIF2A developed tumors, and those with Pro531Thr and Pro531Ser mutations had shorter latency than tumors from mice with wild-type HIF2A.
|
23533246 |
2013 |
|
rs11549465
|
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Gene frequencies exhibited a significant increase of the CC genotype of rs11549465 polymorphism in knee OA patients as compared with those present in controls (P = 0.003 OR = 5.7, 95% CI = 1.7-21.6); CT genotype and T allele showed decreased frequency in the knee OA group vs. the controls (P = 0.003 OR = 0.2, CI = 0.05-0.6; and P = 0.004 OR = 0.2, CI = 0.05-0.65, respectively).
|
26293784 |
2015 |
|
rs11549465
|
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 and rs11549467 (HIF1A) in AMD cases and healthy controls; association between genotypes and AMD subtypes.
|
24995509 |
2015 |
|
rs11549467
|
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 and rs11549467 (HIF1A) in AMD cases and healthy controls; association between genotypes and AMD subtypes.
|
24995509 |
2015 |
|
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
|
|
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 |
|
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 |
|
rs11549465
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
HIF-1a rs11549465 and rs115494657 polymorphisms appeared to be irrelevant to HBV-related HCC.
|
25195037 |
2014 |
|
rs11549465
|
|
Cancer of Digestive System
|
|
0.010 |
GeneticVariation
|
BEFREE |
HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-analysis.
|
24293391 |
2014 |
|
rs11549465
|
|
Diabetic Nephropathy
|
|
0.030 |
GeneticVariation
|
BEFREE |
HIF-1α Pro582Ser single nucleotide polymorphisms may be correlated with type 2 DN, which needs further exploration.
|
26600509 |
2015 |
|
rs11549467
|
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
HIF-1α rs11549467 polymorphism may be associated with COPD risk.
|
28865600 |
2017 |
|
rs11549467
|
|
Malignant Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
HIF-1α G (A588T) polymorphism has been shown to lead to genetic susceptibility to malignant tumors but results have been controversial.
|
25688508 |
2015 |
|
rs11549467
|
|
Cancer of Digestive System
|
|
0.010 |
GeneticVariation
|
BEFREE |
HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-analysis.
|
24293391 |
2014 |
|
rs2057482
|
|
Malignant neoplasm of prostate
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the combined variant genotypes of rs2057482 and rs11549467 were associated with increased PCa risk (OR=2.10; 95%CI=1.23-3.57 among subjects carrying three or more risk alleles).
|
23042446 |
2012 |
|
rs2057482
|
|
Prostate carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the combined variant genotypes of rs2057482 and rs11549467 were associated with increased PCa risk (OR=2.10; 95%CI=1.23-3.57 among subjects carrying three or more risk alleles).
|
23042446 |
2012 |
|
rs11549467
|
|
Malignant neoplasm of prostate
|
|
0.040 |
GeneticVariation
|
BEFREE |
However, the combined variant genotypes of rs2057482 and rs11549467 were associated with increased PCa risk (OR=2.10; 95%CI=1.23-3.57 among subjects carrying three or more risk alleles).
|
23042446 |
2012 |
|
rs11549467
|
|
Prostate carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
However, the combined variant genotypes of rs2057482 and rs11549467 were associated with increased PCa risk (OR=2.10; 95%CI=1.23-3.57 among subjects carrying three or more risk alleles).
|
23042446 |
2012 |
|
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 |