rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a common genetic trait that increases susceptibility to iron overload.McLaren et al. used bivariate mixture modeling to analyze the joint population distribution of transferrin saturation (TS) and serum ferritin concentration (SF) measured for participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
30913256 |
2019 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
The examined genes and single-nucleotide polymorphisms were 1) TMPRSS6, involved in regulation of hepcidin: rs855791; 2) HFE, associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9, associated with restless leg syndrome: rs9357271; and 4) TF, encoding transferrin: rs2280673 and rs1830084.
|
30536387 |
2019 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
In subjects with CF, the C282Y HFE substitution was associated with worse lung function, and increased rates of CFRD and gastrointestinal complications.
|
30291871 |
2019 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Genetic testing for HJV variants should thus be performed for all patients displaying a non-p.Cys282Tyr homozygous HFE hemochromatosis with hepcidin deficiency phenotype.
|
30389309 |
2019 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
The rate of HFE c.845G>A (p.Cys282Tyr) homozygotes in the CRC group reinforces a previously reported, but relatively unexplored, association between hemochromatosis and CRC.
|
31422818 |
2019 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Phenotypic and clinical data from a total of 156 patients with non-HFE HH was extracted from 53 publications and compared with data from 984 patients with <i>HFE</i>-p.C282Y homozygous HH from the QIMR Berghofer Hemochromatosis Database.
|
29743178 |
2018 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.
|
30145563 |
2018 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training.
|
29589198 |
2018 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene.
|
28771247 |
2018 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
White blood cells and subtypes in HFE p.C282Y and wild-type homozygotes in the Hemochromatosis and Iron Overload Screening Study.
|
27915113 |
2017 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.
|
27784128 |
2017 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
|
27740525 |
2017 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Iron loading in p.C282Y homozygous HFE hemochromatosis subjects is highly variable, and it is unclear what factors cause this variability.
|
28678636 |
2017 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Although associated with homozygosity for the C282Y polymorphism in the HFE gene in >80% of patients, hemochromatosis is a complex genetic disease with strong environmental disease modifiers.
|
27170390 |
2017 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754).
|
26416403 |
2016 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation |
CLINVAR |
The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).
|
27124787 |
2016 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, we performed a population-based analysis of the distribution of three hemochromatosis-related polymorphisms in the HFE gene (rs1800562, rs1799945 and rs1800730).
|
27221532 |
2016 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients.Am.J. Hematol.91:1202-1205, 2016.© 2016 Wiley Periodicals, Inc.
|
27518069 |
2016 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
On the basis of a retrospective analysis, in patients with HH homozygous for the C282Y mutation in HFE, treatment with PPIs for 2 or more years significantly reduced the number of phlebotomies required to maintain serum levels of ferritin below 100 μg/L.
|
26240005 |
2016 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.
|
25311314 |
2015 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
In addition, female metastatic brain tumor patients with C282Y have shorter survival times post diagnosis than WT patients (p = 0.02) or male metastatic brain tumor patients with C282Y (p = 0.02).
|
25491948 |
2015 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives.
|
26504855 |
2015 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation |
CLINVAR |
Prothrombin G20210A mutation is associated with recurrent pregnancy loss: a systematic review and meta-analysis update.
|
25528068 |
2015 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |
rs1800562
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation |
BEFREE |
In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease develops in a minority, due to alcohol abuse or concurrent genetic modifiers that are now being identified.
|
26164493 |
2015 |