|
rs1800562
|
|
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
|
|
Hemochromatosis
|
|
0.100 |
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
|
|
Diabetes
|
|
0.100 |
GeneticVariation
|
BEFREE |
Younger ages of onset of diabetes as well as a longer duration of the disease were detected in patients carrying at least one C282Y allele (p = 0.007).
|
15347835 |
2004 |
|
rs1800562
|
|
Diabetes Mellitus
|
|
0.100 |
GeneticVariation
|
BEFREE |
Younger ages of onset of diabetes as well as a longer duration of the disease were detected in patients carrying at least one C282Y allele (p = 0.007).
|
15347835 |
2004 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
With the objective of testing the modifier effect of the individual CD8+ T-lymphocyte profile on the levels of iron stores with age in HH, we reviewed the clinical and immunological data from a group of well-characterized C282Y homozygous HH subjects, regularly followed-up for a period of 20 years.A total of 70 subjects were analyzed.
|
16762569 |
2006 |
|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.050 |
GeneticVariation
|
BEFREE |
With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4).
|
15018631 |
2004 |
|
rs1800562
|
|
Myelodysplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4).
|
15018631 |
2004 |
|
rs1800562
|
|
Adenocarcinoma of prostate
|
|
0.010 |
GeneticVariation
|
BEFREE |
With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4).
|
15018631 |
2004 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
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
|
|
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
|
|
Hemochromatosis
|
|
0.100 |
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
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Whereas a recent study reported an increased risk of colorectal cancer associated with any HFE germ line mutation (C282Y or H63D), other investigators have concluded there is no increased risk, or that any increase is dependent on polymorphisms in HFE-interacting genes such as the transferrin receptor (TFR).
|
15941956 |
2005 |
|
rs1800562
|
|
Colorectal Carcinoma
|
|
0.080 |
GeneticVariation
|
BEFREE |
Whereas a recent study reported an increased risk of colorectal cancer associated with any HFE germ line mutation (C282Y or H63D), other investigators have concluded there is no increased risk, or that any increase is dependent on polymorphisms in HFE-interacting genes such as the transferrin receptor (TFR).
|
15941956 |
2005 |
|
rs1800562
|
|
Malignant neoplasm of colon and/or rectum
|
|
0.070 |
GeneticVariation
|
BEFREE |
Whereas a recent study reported an increased risk of colorectal cancer associated with any HFE germ line mutation (C282Y or H63D), other investigators have concluded there is no increased risk, or that any increase is dependent on polymorphisms in HFE-interacting genes such as the transferrin receptor (TFR).
|
15941956 |
2005 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
When the diagnosis was iron overload</span>, 39% of subjects tested were homozygous for C282Y.
|
17079357 |
2007 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
When combined with the C282Y mutation, the S65C mutation is associated with an increased risk of being diagnosed with phenotypic HH.
|
12180078 |
2002 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
We used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the HFE gene in patients with a higher prevalence for hemochromatosis.
|
11676983 |
2001 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the HFE gene in patients with a higher prevalence for hemochromatosis.
|
11676983 |
2001 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
We therefore examined in the general population iron overload progression rate in C282Y homozygotes.
|
15070663 |
2004 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
We then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C282Y and 438 individuals with the compound heterozygous HFE genotype C282Y/H63D.
|
11568090 |
2001 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C282Y and 438 individuals with the compound heterozygous HFE genotype C282Y/H63D.
|
11568090 |
2001 |
|
rs1800562
|
|
Ischemic stroke
|
|
0.010 |
GeneticVariation
|
BEFREE |
We tested the hypothesis that the HFE genotypes H63D/H63D, H63D/wild type, C282Y/H63D, C282Y/C282Y, and C282Y/wild type are risk factors for symptomatic carotid atherosclerosis, ischemic cerebrovascular disease (ICVD), and ischemic stroke.
|
17389307 |
2007 |
|
rs1800562
|
|
Common Variable Immunodeficiency
|
|
0.020 |
GeneticVariation
|
BEFREE |
We tabulated the phenotype frequencies of HLA-A*03 and the frequencies of common HLA haplotypes A*01-B*08, A*02-B*44, A*03-B*07, and A*03-B*14 in three groups of white adults: (1) 141 hemochromatosis probands with C282Y homozygosity; (2) 195 index cases with IgG subclass deficiency (IgGSD) or common variable immunodeficiency (CVID), disorders typically linked to Ch6p, and (3) 750 control subjects.
|
15607698 |
2005 |
|
rs1800562
|
|
IgG Deficiency disorder
|
|
0.020 |
GeneticVariation
|
BEFREE |
We tabulated the phenotype frequencies of HLA-A*03 and the frequencies of common HLA haplotypes A*01-B*08, A*02-B*44, A*03-B*07, and A*03-B*14 in three groups of white adults: (1) 141 hemochromatosis probands with C282Y homozygosity; (2) 195 index cases with IgG subclass deficiency (IgGSD) or common variable immunodeficiency (CVID), disorders typically linked to Ch6p, and (3) 750 control subjects.
|
15607698 |
2005 |
|
rs1800562
|
|
Dystrophia myotonica 2
|
|
0.010 |
GeneticVariation
|
BEFREE |
We suggest that mutations C282Y and H63D in the HFE gene are not significant risk factors for the development of DM2 in Brazilian women.
|
19876870 |
2009 |