Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10873142
rs10873142
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first case-control study uncovering that the <i>HIF1A</i> gene rs10873142 polymorphism increases the risk of COPD in a Chinese Han population. 29339421

2018

dbSNP: rs11549465
rs11549465
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.010 GeneticVariation BEFREE We identified a protective effect of <i>HIF-1A</i> Pro582Ser against developing severe DR with a risk reduction of 95%, even when adjusting for known risk factors for DR such as diabetes duration, hyperglycemia, and hypertension. 31214621

2019

dbSNP: rs11549465
rs11549465
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.010 GeneticVariation BEFREE The distribution differences of gene frequencies for rs11549465, rs11549467 and rs1957757 in HIF1A single nucleotide gene polymorphisms for LVH (+) and LVH (-) were statistically significant (p<0.05). 31599436

2019

dbSNP: rs11549465
rs11549465
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE We identified a protective effect of <i>HIF-1A</i> Pro582Ser against developing severe DR with a risk reduction of 95%, even when adjusting for known risk factors for DR such as diabetes duration, hyperglycemia, and hypertension. 31214621

2019

dbSNP: rs11549465
rs11549465
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 GeneticVariation BEFREE Moreover, the relative resistance of the <i>HIF-1A</i> Pro582Ser polymorphism to the repressive effect of hyperglycemia is due to the transactivation activity rather than the protein stability of HIF-1<i>α</i>. 31214621

2019

dbSNP: rs11549465
rs11549465
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 GeneticVariation BEFREE The results of this study show that Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms may play a role in NTDs. 30672442

2018

dbSNP: rs11549465
rs11549465
CUI: C1306460
Disease: Primary malignant neoplasm of lung
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: rs11549465
rs11549465
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE Patients with rs11549465 CT + TT had higher COPD risk than those with the CC genotype. 28865600

2017

dbSNP: rs11549465
rs11549465
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
0.010 GeneticVariation BEFREE We identified <i>HIF1A Pro582Ser T</i> allele and <i>C</i>/<i>T</i> genotype as well as <i>AKNA -1372C>A</i> polymorphism A/A genotype as genetic factors associated with pSS. 28484714

2017

dbSNP: rs11549465
rs11549465
CUI: C0684249
Disease: Carcinoma of lung
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
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 GeneticVariation BEFREE The associations between the presence of endometriosis and SNPs in PLGF (rs2268614), HIF-1α (rs11549465), and VEGFR1 (rs9582036) genes lost statistical significance after multiple testing. 26773192

2016

dbSNP: rs11549465
rs11549465
CUI: C0242383
Disease: Age related macular degeneration
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
CUI: C0029408
Disease: Degenerative polyarthritis
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

dbSNP: rs11549465
rs11549465
CUI: C0085119
Disease: Foot Ulcer
Foot Ulcer
0.010 GeneticVariation BEFREE This study was designed in order to examine the HIF-1α gene polymorphism, p582s (rs11549465) in Exon-12 of HIF-1α gene in diabetic subjects with and without foot ulcers (DFU) and to find its expression under these pathological conditions. 26113285

2015

dbSNP: rs11549465
rs11549465
CUI: C1456868
Disease: Diabetic foot ulcer
Diabetic foot ulcer
0.010 GeneticVariation BEFREE Impact of the hypoxia inducible factor-1α (HIF-1α) pro582ser polymorphism and its gene expression on diabetic foot ulcers. 26113285

2015

dbSNP: rs11549465
rs11549465
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE In subgroup analysis for cancer types, the two polymorphisms were only associated with increased risk of pancreatic cancer (P582S: SS vs. PP: OR = 2.51, 95% CI: 1.31, 4.81; SS vs. 24293391

2014

dbSNP: rs11549465
rs11549465
CUI: C0596263
Disease: Carcinogenesis
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: rs11549465
rs11549465
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 GeneticVariation BEFREE Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis through various mechanisms, and HIF-1α polymorphisms are reportedly associated with many cancers; however, the associations of HIF-1α P582S and A588T polymorphisms with the risk of digestive system cancer remain inconclusive. 24293391

2014

dbSNP: rs11549465
rs11549465
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE In subgroup analysis for cancer types, the two polymorphisms were only associated with increased risk of pancreatic cancer (P582S: SS vs. PP: OR = 2.51, 95% CI: 1.31, 4.81; SS vs. 24293391

2014

dbSNP: rs11549465
rs11549465
CUI: C0751075
Disease: Cancer of Digestive System
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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE It is worth mentioning that the allele T at rs11549465, located at the exon sequence, revealed a trend but no significant difference towards the more frequent allele T in SLE than in controls (C versus T: OR=1.206, 95 % CI=0.972-1.495, p =0.088). 24232601

2014

dbSNP: rs11549465
rs11549465
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE HIF-1a rs11549465 and rs115494657 polymorphisms appeared to be irrelevant to HBV-related HCC. 25195037

2014

dbSNP: rs11549465
rs11549465
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 GeneticVariation BEFREE Two polymorphisms in the HIF-1a gene (rs11549465 and rs115494657) were examined in 157 hepatitis B virus (HBV)-related HCC patients and 173 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism method. 25195037

2014

dbSNP: rs11549465
rs11549465
CUI: C0002871
Disease: Anemia
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: rs11549465
rs11549465
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.010 GeneticVariation BEFREE Moreover, the HIF-1α(Pro-582-Ser) polymorphism protected regular blood donors from developing iron deficiency and anaemia and predicted uninterrupted donation activity. 24120591

2013