HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis. Tumor Biol 2013; 34: 2255-9. 4. Fargion S, Valenti L, Fracanzani AL. Hemochromatosis gene (HFE)Chen W, Zhao H, Li T, Yao H (2013) HFE gene C282Y variant is associated with colorectal cancer...
The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade...
ClassicalhereditaryhemochromatosisinvolvestheHFE-geneanddiagnosticanalysisoftheDNAvariantsHFE p.C282Y(c.845G>A;rs1800562)andHFEp.H63D(c.187C>G;rs1799945).Theaffectedproteinaltersthe ironhomeostasisresultinginironoverloadinvarioustissues.Theaimofthisstudywastovalidatethe TaqMan-basedSample-to-SNPprotocolfor...
adaptation and microevolution that addresses Ireland's comparatively high C282Y frequency. We argue that changing subsistence‐, diet‐, and nutrition‐related stressors framed under colonial governance played a role shaping the biology of Ireland's population historically, maintaining the C282Y variant....
The current meta-analysis supported the positive association of HFE gene C282Y variant with colorectal cancer. Further large-scale studies with the consideration for gene-gene/gene-environment interactions should be conducted to investigate the association.Chen,W.Zhao,H.Li,T.Yao,H....
The C282Y gene variant allele was present in 5.6%, H63D in 12.8% and S65C in 1.8% of the chromosomes. In the entire series, we observed 1.4% H63D/C282Y, 0.1% S65C/C282Y and 0.4% H63D/S65C compound heterozygotes. The C282Y allele frequency in Denmark is of similar order as ...
Compared to those with no C282Y variant, C282Y homozygotes were at increased risk of colorectal cancer (HR = 2.28; 95% CI = 1.22, 4.25; P = 0.01) and female C282Y homozygotes were at increased risk of developing breast cancer (HR = 2.39; 95% CI = 1.24, 4.61; P = 0.01), but ...
We could not detect C282Y (rs1800562) variant in our patient population or in the controls. For carrier status with H63D (rs1799945) we had 30.3% compared to a frequency of 22.7% in the controls (p=0.37). H63D allele frequency was 15.2% in our patients compared to 11.8% in the ...
Indeed, an international consortium has recently identified that the genetic variant (GNPAT) has been identified as predisposing to iron overload related disease. Further mutations can be anticipated and will assist in early diagnosis and treatment as well as identifying subjects predisposed to ...
We have examined the interaction between the C2 variant of the transferrin (TF) gene and the C282Y allele of the haemochromatosis (HFE) gene as risk factors for developing AD. Our results showed that each of the two variants was associated with an increased risk of AD only in the ...