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: rs41508050
rs41508050
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0155626
Disease:
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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0242383
Disease:
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
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0242383
Disease:
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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1654637
Disease:
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
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1654637
Disease:
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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0002871
Disease:
Anemia
0.010 GeneticVariation BEFREE These findings show for the first time that the HIF-1α(Pro-582-Ser) polymorphism significantly affects red blood cell and iron homeostasis after blood loss, conferring to male carriers a resistance to anaemia. 24120591 2013
dbSNP: rs1430452530
rs1430452530
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE Using a well-defined, autochthonous Kras(G12D)-driven murine model, as well as human tumors, we demonstrate that hypoxia and stabilization of hypoxia-inducible factor 1α (HIF1α), a principal mediator of hypoxic adaptation, emerge early during preinvasive stages of PDAC. 26715642 2016
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE In conclusion, the rs2057482-CC genotype increases the susceptibility to PDAC and associated with cancer progression. 26872370 2016
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
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
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Our results indicated a boardline connection between HIF-1 rs11549467 and BC risk (AG compared with GG: OR = 1.61, 95% CI = 1.05-2.49, <i>P</i>=0.03; AG + AA compared with GG: OR = 1.64, 95% CI = 1.08-2.51, <i>P</i>=0.02; AG compared with GG + AA: OR = 1.61, 95% CI = 1.04-2.48, <i>P</i>=0.03; OR = 1.64, 95% CI = 1.09-2.45, <i>P</i>=0.02), while HIF-2 rs17039192 had no influence on breast cancer. 30135144 2018
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE There were no significant differences in genotypic frequencies for P582S and A588T between breast cancer patients and controls, nor between the transcriptional activity of the 582S mutant and the wild-type HIF-1α. 23749907 2013
dbSNP: rs142179458
rs142179458
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Subtype analysis performed for patient subgroups defined by ER, PR, and HER2 status suggested additional associations of the <i>NOTCH3</i> SNP rs200504060 and the <i>HIF1A</i> SNP rs142179458 with breast cancer risk. 28775167 2017
dbSNP: rs574603732
rs574603732
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE HSP90α Gln488His polymorphism seems to be a risk factor for breast cancer. 23065205 2012
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0751075
Disease:
Cancer of Digestive System
0.010 GeneticVariation BEFREE HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-analysis. 24293391 2014
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0751075
Disease:
Cancer of Digestive System
0.010 GeneticVariation BEFREE HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-analysis. 24293391 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Hypoxia-inducible factor-1 alpha (HIF-1α) P582S polymorphism has been reported to increase transactivation capacity of HIF-1α, which is prone to tumorigenesis. 25337255 2014
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0684249
Disease:
Carcinoma of lung
0.030 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937 2014
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0684249
Disease:
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
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0684249
Disease:
Carcinoma of lung
0.030 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C4048328
Disease:
cervical cancer
0.020 GeneticVariation BEFREE In a case-control study of 518 cervical cancer patients and 553 cancer-free controls, we genotyped three single-nucleotide polymorphisms (SNPs) (rs11549465, rs11549467 and rs2057482) of HIF-1α using the TaqMan SNP Genotyping Assays and assessed its associations with the cervical cancer risk. 24195510 2014
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C4048328
Disease:
cervical cancer
0.020 GeneticVariation BEFREE This meta-analysis demonstrates that HIF-1α P582S polymorphism may be associated with the risk of cervical cancer. 25337255 2014
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE In a case-control study of 518 cervical cancer patients and 553 cancer-free controls, we genotyped three single-nucleotide polymorphisms (SNPs) (rs11549465, rs11549467 and rs2057482) of HIF-1α using the TaqMan SNP Genotyping Assays and assessed its associations with the cervical cancer risk. 24195510 2014