|
Liver diseases
|
|
0.100 |
GeneticVariation
|
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 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
A secondary cause for liver disease should be excluded among patients with suspected iron overload who are not C282Y homozygotes.
|
31335359 |
2019 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes is likely to develop severe liver disease during his lifetime unless iron overload is detected early and treated.
|
28771247 |
2018 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
An elevated SF >1000 mg/l [corrected] is associated with an increased risk of cirrhosis and mortality in C282Y homozygotes.Conversely, a SF <1000 µg/l is associated with a very low likelihood of cirrhosis, making liver biopsy unnecessary among C282Y homozygotes in the absence of concomitant risk factors for liver disease.
|
23985001 |
2013 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hereditary hemochromatosis resulting either from homozygosity for the C282Y polymorphism of the HFE gene, or compound heterozygosity for C282Y and H63D, manifests with liver disease and hypogonadism.
|
20160468 |
2010 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
All previously undiagnosed C282Y homozygotes (35 male, 67 female) and all HFE wild-types (131 male, 160 female) with baseline and follow-up SF concentrations <1000 microg/L were assessed for HH-associated signs and symptoms including abnormal second/third metacarpophalangeal joints (MCP2/3), raised liver enzymes, hepatomegaly, and self-reported liver disease, fatigue, diabetes mellitus, and use of arthritis medication.
|
20583211 |
2010 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
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 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Male C282Y homozygotes with a serum ferritin level of 1000 mug per liter or more were more likely to report fatigue, use of arthritis medicine, and a history of liver disease than were men who had the wild-type gene.
|
18199861 |
2008 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although there is no standard definition of clinical penetrance, large studies of newly diagnosed C282Y homozygotes that have specifically assessed liver disease have obtained data showing that penetrance occurs in between 24 and 43% of males and 1 and 14% of females.
|
21082925 |
2008 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clinical indications such as "liver disease" were of little predictive value for homozygosity for C282Y, but this increased if a raised serum ferritin concentration or transferrin saturation was indicated.
|
17079357 |
2007 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although serum iron abnormalities are common, C282Y and H63D mutation frequencies were not increased in heavy drinkers with decompensated liver disease.
|
16454835 |
2006 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, given the association between C282Y mutation and HBV infection in male patients with HCC, a careful evaluation and follow-up should be considered in the C282Y-positive subjects with hepatitis B virus related liver disease.
|
15894495 |
2005 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among men, C282Y homozygotes and compound heterozygotes were more likely to report a history of liver disease than were participants without HFE mutations.
|
15858186 |
2005 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated with liver disorders, but have no measurable effect on other iron overload-related symptoms and life-expectancy.
|
12678056 |
2003 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
The purposes of this current study were to determine the prevalence of the C282Y and H63D mutations in the Balearic Islands and the genotypic characterization of patients diagnosed with HH, as well as those with iron overload and liver diseases.
|
11903355 |
2002 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
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 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys282Tyr and His63Asp) provided an opportunity to test whether they are associated with hepatic iron accumulation and the activity and severity of liver disease in hepatitis C virus (HCV) infection.
|
10692680 |
2000 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Of the 132 patients with liver disease, 6 (5%) were C282Y homozygotes, 8 (6%) were compound heterozygotes, 6 (5%) were C282Y heterozygotes, 5 (4%) were H63D homozygotes, 20 (15%) were H63D heterozygotes, and 87 (66%) were negative for both mutations.
|
10383365 |
1999 |
|
Liver diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
We evaluated whether the recently described C282Y mutation of the hemochromatosis gene, designated HFE (responsible for at least 83% of hereditary hemochromatosis), was associated with more advanced liver disease in chronic hepatitis C. One hundred thirty-seven patients with biopsy-proven chronic hepatitis C were studied and liver biopsies scored for necroinflammation (grade 0-18) and fibrosis (stage 0-6).
|
9620344 |
1998 |