HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men. 30657865 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE In conclusion, cirrhosis in HFE p.C282Y homozygotes is significantly associated with age, diabetes, daily alcohol intake, and iron removed by phlebotomy, taking into account the effect of other variables. 30145563 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Maternal but not fetal HFE genotypes causing high/intermediate iron stores were associated with offspring diabetes (odds ratio: 1.45, 95%CI: 1.04, 2.02). 29899542 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Further, we induced diabetes in HFE knockout (KO) mice model of genetic iron overload to understand the role of iron in the pathogenesis of DR. We found increased neuronal cell death, vascular alterations and loss of retinal barrier integrity in diabetic HFE KO mice compared to diabetic wildtype mice. 29445185 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We retrospectively studied SF and post-screening age; sex; body mass index; transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly; splenomegaly; diabetes; HFE H63D positivity; iron/alcohol intakes; and blood/erythrocyte transfusion units. 28809726 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Data showed there are no relationship between these indexes and HFE gene mutations and either NAFLD as a complication of diabetes. 27894410 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Risk Factors for Insulin Resistance, Metabolic Syndrome, and Diabetes in 248 HFE C282Y Homozygotes Identified by Population Screening in the HEIRS Study. 26771691 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE CONCLUSIONS In nonscreening hemochromatosis probands with HFE C282Y homozygosity, a heritable factor(s) increases the risk of diabetes diagnosed before hemochromatosis. 23990522 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Individuals who develop iron overload may develop broad symptoms, including joint discomfort, fatigue, decreased libido, and abdominal pain; and if left untreated, HFE-HH has the potential of developing end-organ disease including liver fibrosis, cirrhosis, and cancer; cardiac arrhythmias or heart failure; and diabetes. 24574363 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Cohort 2 included consecutively recruited patients with any diabetes (n = 6,120), transferrin saturation measurement at referral, and HFE genotype if transferrin saturation was above 50%. 23801727 2013
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE SNPs at HFE and TF were not associated with diabetes risk in either sex. 22815867 2012
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE To clarify the pathogenesis of diabetes associated with mutations of the hemochromatosis (HFE) gene, 17 carriers, 9 normal glucose tolerant (NGT) and 8 diabetic, were evaluated in an interventional trial. 17959863 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE All other common HFE genotypes--including C282Y-H63D compound heterozygosity--are not associated with significant biochemical and clinical expression in the absence of comorbid factors (e.g., alcohol, diabetes or steatohepatitis). 19072401 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Hereditary hemochromatosis (HH) is a genetic disease associated with iron overload, in which individuals homozygous for the mutant C282Y HFE associated allele are at risk of developing liver disease, diabetes and arthritis. 17904763 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE There was no significant association of diabetes with HFE genotype. 16936157 2006
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Our goal was to define the relative impact of iron overload, genetic mutations of HFE, and insulin resistance on the severity of liver fibrosis in a population of subjects with nonalcoholic fatty liver disease (NAFLD) who had low prevalence of obesity and no overt symptoms of diabetes. 14752836 2004
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascular disease has shown that homozygosity for C282Y is not commonly found. 12401309 2002
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE In patients with clinical hemochromatosis, the frequency of diabetes ranges from 20 to 50%, and the heterozygosity for the C282Y mutation in the HFE gene might be associated with an increased risk for diabetes. 11423500 2001
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y) mutation and 25 (11.3%) were heterozygous for the same mutation, of whom 3 (1.3%) were compound heterozygotes also carrying the HFE 187G (H63D) mutation. 10695662 2000