|
rs1800562
|
|
|
0.080 |
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 |
|
rs1800562
|
|
|
0.080 |
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 |
|
rs1800562
|
|
|
0.080 |
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 |
|
rs1800562
|
|
|
0.080 |
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 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
There was no association between the presence of HFE mutations and the prevalence of self-reported, doctor-diagnosed arthritis (C282Y/wild type (WT) adjusted OR = 1.041 (95% confidence interval (CI) 0.68-1.61), H63D/WT OR = 0.76 (95% CI 0.53-1.08), C282Y/C282Y OR = 0.39 (95% CI 0.04-3.63), C282Y/H 63D OR = 0.808 (95% CI 0.27-2.42), H63D/H63D OR = 0.419 (95% CI 0.13-1.36)).
|
16638105 |
2006 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The observed C282Y allele frequency in rheumatic patients with undifferentiated arthritis was 12.9 and exceeded that of healthy subjects (p = 0.01).
|
15789881 |
2005 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The 124 C282Y homozygotes who filled out the written questionnaire and the 17 C282Y homozygotes who completed the physician double-blind interview reported no significantly higher rates of arthritis or joint pain, abdominal pain, arrhythmias, darkening of skin, or other symptoms traditionally associated with hemochromatosis compared with the 22,429 wild-type controls who filled out the written questionnaire and 29 wild-type controls who completed the double-blind interview.
|
12059121 |
2002 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These data suggest that most of the C282Y homozygotes occurred in this arthritis group by chance and that their arthritis was incidental to their HFE genotype.
|
11886966 |
2002 |