|
Acute leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Acute lymphocytic leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Acute lymphocytic leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, our data demonstrate a correlation between the presence of the H63D mutation and the occurrence of ALL in adult patients.
|
17107905 |
2006 |
|
Adenocarcinoma of pancreas
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although hemochromatosis is associated with pancreatic pathology, the p.C282Y and p.H63D variants do not play a significant role in the pathogenesis of chronic pancreatitis or pancreatic adenocarcinoma.
|
17666895 |
2007 |
|
Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced distal adenoma and 697 control persons were genotyped for the two major HFE mutations (C282Y and H63D), one HFE polymorphism (IVS2+4), and one polymorphism (G142S) in the transferrin receptor gene (TFRC).
|
15668490 |
2005 |
|
Adrenoleukodystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The prevalence of H63D heterozygosity was 12% in normal individuals, 14.8% in 236 patients (16.9% in NASH, 13.6% in ALD, 26.3% in viral and 12.5% in cryptogenic cirrhosis) and the overall prevalence was 13.98%.
|
17589946 |
2007 |
|
Adrenoleukodystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
There was 1 C282Y/H63D compound heterozygote in the ALD group.
|
20424537 |
2010 |
|
Adult Acute Lymphocytic Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Adult Acute Lymphocytic Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, our data demonstrate a correlation between the presence of the H63D mutation and the occurrence of ALL in adult patients.
|
17107905 |
2006 |
|
Adult Liver Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A number of previous studies have demonstrated that the HFE H63D polymorphism is associated with increased risk of incidence multiple types of cancer, including colorectal cancer, breast cancer, liver cancer, pancreatic cancer, and gynecological malignant tumors.
|
26535689 |
2015 |
|
Adult Non-Hodgkin Lymphoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
With H63D, increased OR occurred in myeloproliferative disorders and adenocarcinomas of breast and prostate (2.4, 2.0, and 2.0, respectively); OR was decreased in non-Hodgkin lymphoma and B-chronic lymphocytic leukemia (0.5 and 0.4, respectively).
|
15018631 |
2004 |
|
Adult Solid Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Therefore, this meta-analysis was conducted to summarize the effect of the H63D variant on the incidence of solid tumor.
|
26535689 |
2015 |
|
Alcoholic Liver Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
To study the role of hemochromatosis gene mutations on the pathogenesis of alcoholic liver disease (ALD), we have analyzed C282Y and H63D mutations on the chromosomes obtained from 95 Japanese alcoholics.
|
10235273 |
1999 |
|
Alcoholic Liver Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease.
|
11469076 |
2001 |
|
alpha 1-Antitrypsin Deficiency
|
|
0.020 |
GeneticVariation
|
BEFREE |
In conclusion, total H63D mutations were high (42%) in cirrhotics with alpha-1-antitrypsin deficiency and there was a significant association between HFE mutations and high levels of iron accumulation.
|
20208481 |
2010 |
|
alpha 1-Antitrypsin Deficiency
|
|
0.020 |
GeneticVariation
|
BEFREE |
Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis.
|
28617828 |
2017 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
We observed no significant impact of H63D or C282Y heterozygosity on age at AD symptoms onset or diagnosis, age at onset of cognitive symptoms (AD and MCI combined), rates of MCI-to-AD conversion or specific neuropsychological deficits.
|
15013567 |
2004 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease.
|
21349849 |
2011 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These findings support our hypothesis that the presence of the HFE H63D allele enables factors that trigger neurodegenerative processes associated with AD and predisposes cells to cytotoxcity.
|
20734416 |
2010 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results indicate that the alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD.
|
24439478 |
2014 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The synthesis of available evidence supports mutant of HFE H63D polymorphism plays a protective role for AD risk.
|
21701828 |
2012 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly protective against Alzheimer's disease while H63D-HFE is a risk factor for neurodegenerative diseases.
|
21243428 |
2011 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results suggest okra may be beneficial in people expressing the H63D variant to reduce the risk of AD and other neurodegenerative diseases related to oxidative stress.
|
26170247 |
2015 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Here we tested the potential association of CAT53 with the risk of developing AD and searched for potential haplotypic associations of CAT53 with two common mutations (H63D, C282Y) in the HFE gene, also located at chromosome 6p21.3.
|
19429178 |
2009 |
|
Alzheimer's Disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|