With risks for iron deficiency anemia heightened by the cultural construction of diet and niche, an adaptive iron‐conserving advantage continued to be offered by the C282Y allele, influencing survival into the post‐Famine era. More recently, however, C282Y has been reframed as a potential risk...
Calculation of the Hardy-Weinberg equilibrium of individuals who identified themselves as “white only” revealed that the gene frequency for the C282Y allele in this group of 30 672 individuals was 0·0622, predicting a homozygote frequency 3·872×10−3. The actual homozygote frequency was ...
C282Y allele 21 (5.02) 50 (2.49) 2.07 (1.23–3.49) 0.005 C282Y/H63D 6 (2.87) 13 (1.29) 2.26 (0.85–6.00) 0.118 OR, odds ratio; CI, confidence interval; In bold, significant p-values. Table 3. The frequencies of HFE C282Y and H63D mutations in male cirrhotic patients and controls...
No association has been previously reported between the C282Y allele and breast . We hypothesized that due to the pro-oxidant properties of , altered in C282Y carriers may promote breast . Because 1 in 10 Caucasians of Northern European ancestry carries this allele, any impact it may have on...
Hemochromatosis in whites of western European descent is associated with homozygosity for HFE p.C282Y (rs1800562), a common missense allele of the homeostatic iron regulator (chromosome 6p22.2) in linkage disequilibrium with human leukocyte antigen (HLA)-A*03 [4, 5]. HFE, a non-classical clas...
[8]. Further, it has been postulated that increased susceptibility to malignancy of persons with C282Y could partly explain age-related reduction in the frequency of C282Y heterozygotes reported in Swedish people, a population with a high C282Y allele frequency [9]. However, it is unknown ...
(∆32) in the CCR5 gene results in defective expression of the receptor on the cell surface and blocks entry of the virus. The inactive CCR5∆32 allele confers resistance to HIV-1 infection in homozygotes and slows the rate of progression to AIDS in heterozygotes (Huang et al. 1996)....
The contribution of this allele to iron overload is most relevant in the case of combined heterozygosity with C282Y allele (C282Y/H63D). The third common mutation of HFE is g.193A>T substitution in exon 2 (serine replaced by cysteine in the protein sequence, S65C) and was shown to be...
The contribution of this allele to iron overload is most relevant in the case of combined heterozygosity with C282Y allele (C282Y/H63D). The third common mutation of HFE is g.193A>T substitution in exon 2 (serine replaced by cysteine in the protein sequence, S65C) and was shown to be...
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantationHumansBreast NeoplasmsHematologic NeoplasmsHepatic Veno-Occlusive DiseaseIronHemochromatosisCarbamoyl-Phosphate Synthase (Ammonia