HFE
Homeostatic iron regulator
Gene Number: 3077
Location: 6p22.2
Key Functions: Iron absorption regulation, hepcidin modulation, iron homeostasis, prevention of iron overload
HFE encodes homeostatic iron regulator, a protein that helps control iron absorption by modulating the interaction between transferrin and its receptor. It plays a key role in systemic iron regulation by influencing hepcidin, the hormone that inhibits dietary iron uptake.
Mutations in HFE are associated with hereditary hemochromatosis, a genetic disorder that causes iron overload and increases the risk of liver disease, diabetes, heart problems, and other organ damage if left untreated.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs1800562 | No matching variant or no valid DNA data | A | No interpretation available |
rs1799945 | No matching variant or no valid DNA data | G | No interpretation available |
rs1800562
GG – Typical HFE function; normal iron absorption (R).
AG – Moderate to high risk; increased hemochromatosis risk especially when homozygous or in presence of other risk variants (R).
AA – High risk; significantly elevated risk for hereditary hemochromatosis with potential organ damage, particularly in men (R).
Functional effect: The A allele (C282Y) causes loss of interaction with transferrin receptors, disrupting hepcidin regulation and permitting unchecked iron absorption. This leads to iron overload, particularly in homozygotes or compound heterozygotes with H63D (R).
rs1799945
CC – Reference genotype; baseline iron regulation (R).
CG –Mild risk; associated with modest iron accumulation, especially in combination with C282Y, and may support endurance performance (R).
GG – Elevated risk; homozygous carriers have higher susceptibility to iron overload when combined with dietary or comorbid stressors, though overall penetrance is low (R).
Functional effect: The G allele (H63D) subtly disrupts iron homeostasis. Alone, it doesn't typically cause clinical hemochromatosis, but in compound heterozygotes (e.g., C282Y + H63D) or under environmental stress, iron accumulation risk increases (R).
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