Takeaway
- Homozygosity for the p.C282Y variant is associated with heightened risk for hepatic malignancy and death in men.
Why this matters
- The p.C282Y variant is present in 81% of people with hemochromatosis, the most common autosomal recessive disorder among people with Northern European ancestry.
Study design
- Analysis of data for UK Biobank participants of European ancestry (n=451,186).
- Funding: UK Medical Research Council.
Key results
- Comparison of homozygosity for HFE p.C282Y vs having neither the HFE p.C282Y nor p.H63D variants:
- Men had higher risk for:
- Hepatic malignancies: 1.55% vs 0.14%.
- HR, 10.47 (P<.001>
- All-cause mortality: 6.8% vs 5.3%.
- HR, 1.24 (P=.046).
- Hepatic malignancies: 1.55% vs 0.14%.
- For women, risk values were not statistically significant for hepatic malignancy (HR, 2.06; P=.22) or death (HR, 1.18; P=.20).
- Men had higher risk for:
- Lifetable projections showed that by age 75 years, men homozygous for p.C282Y vs those with no variants tied to primary hepatic malignancy had a higher risk for malignancy: 7.2% vs 0.6% (95% CI of difference, 3.5%-12.3%).
- Women who were homozygous did not have this higher risk.
- Risk for death by age 75 years was also higher in men who were homozygous (19.5% vs 15.1%; 95% CI of difference, 1.2%-8.5%).
- The risk was not higher in women with homozygosity.
Limitations
- Participants were healthier than the general population.
Dieser Volltext ist leider reserviert für Angehöriger medizinischer Fachkreise
Sie haben die Maximalzahl an Artikeln für unregistrierte besucher erreicht
Kostenfreier Zugang Nur für Angehörige medizinischer Fachkreise