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: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE The rs2057482 polymorphism was associated with decreased overall cancer risk, based on the currently available studies. 31744467 2019
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Overall, C1772T and G1790A but not rs2057482 were associated with increased risk for cancer. 24046090 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE The results suggest that HIF1A rs2057482 polymorphism is involved in the risk of developing CAD and is associated with some metabolic parameters and cardiovascular risk factors. 24769354 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE Overall, C1772T and G1790A but not rs2057482 were associated with increased risk for cancer. 24046090 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE The genetic mutations within MAPK1 (rs6928, rs9340, rs11913721), HIF-1 (rs1087314, rs2057482), and HO-1 (rs2071746) could alter susceptibility to perimenopausal CAD in this Chinese population. 28444966 2017
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE The rs2057482 polymorphism was associated with decreased overall cancer risk, based on the currently available studies. 31744467 2019
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1867743
Disease:
Premature coronary artery atherosclerosis
0.010 GeneticVariation BEFREE The HIF1A rs2057482 polymorphism is associated with risk of developing premature coronary artery disease and with some metabolic and cardiovascular risk factors. The Genetics of Atherosclerotic Disease (GEA) Mexican Study. 24769354 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE Taken together, this study provides additional evidence that genetic variation of the PECAM1 rs1867624 and HIF1A rs2057482 can mediate lipid levels in MI patients. 30678728 2019
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Moreover, significant protective effects on CRC outcomes conferred by adjuvant chemotherapy were exclusively observed in patients carrying CC genotype of rs2057482 and in those carrying AC/CC genotype of rs2301113. 24969897 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0020557
Disease:
Hypertriglyceridemia
0.010 GeneticVariation BEFREE Under a dominant model adjusted for age, visceral to subcutaneous adipose tissue (VAT/SAT) ratio, hypertension, type 2 diabetes mellitus (T2DM), HDL-C levels, hypercholesterolemia and hypertriglyceridemia, the rs2057482 T allele was associated with decreased risk of premature CAD when compared to healthy controls (OR = 0.616, P(dom) = 0.020). 24769354 2014
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: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE So that, our results provided the first insight into rs2057482 polymorphism of in the 3´-untranslated region of HIF-1α contributed to the risk of cervical cancer in a Chinese population and thus may serve as a reliable predictive factor of cervical cancer. 24195510 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0376358
Disease:
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
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1306460
Disease:
Primary malignant neoplasm 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: C0600139
Disease:
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
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0242379
Disease:
Malignant neoplasm 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: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE So that, our results provided the first insight into rs2057482 polymorphism of in the 3´-untranslated region of HIF-1α contributed to the risk of cervical cancer in a Chinese population and thus may serve as a reliable predictive factor of cervical cancer. 24195510 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE In conclusion, SNP rs2057482 in HIF1A gene is significantly associated with clinical outcomes of Chinese HCC patients after surgery, especially in those with aggressive status, which warrants further validation in other patient populations. 26115041 2015
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: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0007134
Disease:
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
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE So that, our results provided the first insight into rs2057482 polymorphism of in the 3´-untranslated region of HIF-1α contributed to the risk of cervical cancer in a Chinese population and thus may serve as a reliable predictive factor of cervical cancer. 24195510 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE In this analysis, the rs2057482 T allele was associated with decreased risk of obesity, central obesity, hypertension, hypercholesterolemia, hypertriglyceridemia and increased risk of T2DM. 24769354 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE In this analysis, the rs2057482 T allele was associated with decreased risk of obesity, central obesity, hypertension, hypercholesterolemia, hypertriglyceridemia and increased risk of T2DM. 24769354 2014
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0178874
Disease:
Tumor Progression
0.010 GeneticVariation BEFREE In conclusion, the rs2057482-CC genotype increases the susceptibility to PDAC and associated with cancer progression. 26872370 2016
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