Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.030 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
Prostate carcinoma
CUI: C0600139
Disease: 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Eclampsia
CUI: C0013537
Disease: Eclampsia
0.020 GeneticVariation BEFREE We determined whether maternal blood c.1722C>T (Pro582Ser) and c.1790G>A (Ala588Thr) polymorphisms in exon 12 of the HIF-1α gene are associated with pre-eclampsia. 21979130 2012
Conventional (Clear Cell) Renal Cell Carcinoma
0.020 GeneticVariation BEFREE This meta-analysis was performed to assess the relationship between HIF-1α C1772T (rs11549465)/G1790A (rs11549467) gene polymorphism and RCC risk. 30539853 2018
Breast Carcinoma
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
Conventional (Clear Cell) Renal Cell Carcinoma
0.020 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
Malignant neoplasm of gastrointestinal tract
0.020 GeneticVariation BEFREE To understand the role of HIF-1α P582S and A588T genotypes in digestive cancer development, we conducted a comprehensive meta-analysis involving 1,517 cases and 3,740 controls. 24293391 2014
Eclampsia
CUI: C0013537
Disease: 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
Malignant neoplasm of gastrointestinal tract
0.020 GeneticVariation BEFREE Our meta-analysis suggests that HIF-1α rs11549465 C>T and rs11549467 G>A polymorphisms influence the pathogenesis of digestive cancers in Asians. 29578149 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Breast Carcinoma
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
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.010 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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 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
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
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
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.010 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
Age related macular degeneration
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
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The aim of this study was to investigate the role of HIF-1α-1772 C/T (P582S) and -1790 G/A (A588T) polymorphisms in the susceptibility to and severity of non-small-cell lung cancer (NSCLC). 22153809 2012
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE HIF-1α rs11549467 polymorphism may be associated with COPD risk. 28865600 2017
Malignant Female Reproductive System Neoplasm
0.010 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
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients. 12919954 2003
Left Ventricular Hypertrophy
CUI: C0149721
Disease: 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
Cancer of Digestive System
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
Peripheral Arterial Diseases
CUI: C1704436
Disease: Peripheral Arterial Diseases
0.010 GeneticVariation BEFREE Similarly, HIF1A A588T genotype frequencies did not differ significantly between PAD patients (AA 95.9%; AT 4.1%) and control subjects (AA 96.8%; AT 3.2%; p = 0.28). 20926496 2010
cervical cancer
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