HIF1A, hypoxia inducible factor 1 subunit alpha, 3091

N. diseases: 1044; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10138032
rs10138032
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7156573
rs7156573
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0428886
Disease:
Mean blood pressure
0.700 GeneticVariation GWASDB Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets. 22510845 2012
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE These results suggest that <i>HIF-1α</i> rs11549465 C>T polymorphism may predispose to cancer susceptibility. 31762805 2019
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.060 GeneticVariation BEFREE Our findings indicate that HIF1A rs11549465 polymorphism may not independently play a significant role in the occurrence of prostate cancer. 28415653 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE Studies on HIF 1α C1772T (P582S) polymorphism revealed a genetic susceptibility to malignant tumors, however, the results were conflicting. 24576222 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.060 GeneticVariation BEFREE The HIF1A +1772 C>T (rs11549465) polymorphism was genotyped, using DNA isolated from peripheral blood, in 1490 male subjects (754 with prostate cancer and 736 controls cancer-free) through Real-Time PCR. 24090974 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE Our findings suggest that the HIF-1α A588T polymorphism is significantly associated with higher cancer risk and the P582S polymorphism is significantly associated with pancreatic cancer risk. 24293391 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE In conclusion, our findings suggest that HIF1A Pro582Ser</span> polymorphism may contribute to the risk of digestive tract cancers, especially in Asian populations. 25117331 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE This meta-analysis aims to derive a precise estimation of the association between a common polymorphism (C1772T; rs11549465 C>T) in the HIF-1α gene and susceptibility to GIT cancer. 24063654 2013
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.060 GeneticVariation BEFREE The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in Caucasian population, while A588T polymorphism may increase the risk of urinary cancers in Asian population and prostate cancer. 23723982 2013
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.060 GeneticVariation BEFREE No altered PCa risk was associated with the rs11549465 and rs2057482 polymorphism. 23042446 2012
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.060 GeneticVariation BEFREE Our data suggest that homozygous HIF1A P582S mutation confers significant susceptibility to prostate cancer. 16998808 2007
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006826
Disease:
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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE These results suggest that <i>HIF-1α</i> rs11549465 C>T polymorphism may predispose to cancer susceptibility. 31762805 2019
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0600139
Disease:
Prostate carcinoma
0.050 GeneticVariation BEFREE Our findings indicate that HIF1A rs11549465 polymorphism may not independently play a significant role in the occurrence of prostate cancer. 28415653 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Our findings suggest that the HIF-1α A588T polymorphism is significantly associated with higher cancer risk and the P582S polymorphism is significantly associated with pancreatic cancer risk. 24293391 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Subgroup analysis by ethnicity suggested that HIF1A Pro582Ser polymorphism might increase an individual's susceptibility to digestive tract cancer in Asian populations. 25117331 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0600139
Disease:
Prostate carcinoma
0.050 GeneticVariation BEFREE The HIF1A +1772 C>T (rs11549465) polymorphism was genotyped, using DNA isolated from peripheral blood, in 1490 male subjects (754 with prostate cancer and 736 controls cancer-free) through Real-Time PCR. 24090974 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0600139
Disease:
Prostate carcinoma
0.050 GeneticVariation BEFREE The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in Caucasian population, while A588T polymorphism may increase the risk of urinary cancers in Asian population and prostate cancer. 23723982 2013
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE This meta-analysis aims to derive a precise estimation of the association between a common polymorphism (C1772T; rs11549465 C>T) in the HIF-1α gene and susceptibility to GIT cancer. 24063654 2013
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0600139
Disease:
Prostate carcinoma
0.050 GeneticVariation BEFREE No altered PCa risk was associated with the rs11549465 and rs2057482 polymorphism. 23042446 2012
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0600139
Disease:
Prostate carcinoma
0.050 GeneticVariation BEFREE Our data suggest that homozygous HIF1A P582S mutation confers significant susceptibility to prostate cancer. 16998808 2007
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1306459
Disease:
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
dbSNP: rs763538721
rs763538721
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0025202
Disease:
melanoma
0.040 GeneticVariation BEFREE While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701 2020