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Abstract
Background: The majority of hemochromatosis patients are homozygous for the HFE-C282Y mutation. However, less than half of C282Y homozygous subjects identified by population screening studies actually develop the disease. The cytokine TNF- ! is implicated in the regulation of iron metabolism at different levels. Our aim was to study the role of TNF- ! and its promoter polymorphisms in the phenotypic expression of hemochromatosis in individuals with and without the C282Y mutation. Methods: We studied 4 groups of 10 subjects each: ( 1 ) C282Y homozygotes without clinical hemochromatosis; ( 2 ) C282Y homozygotes with hemochromatosis; ( 3 ) secondary hemochromatosis (without C282Y mutation); and ( 4 ) controls. Groups were age-matched and sex-matched. Peripheral blood mononuclear cells (PBMC) were stimulated with lipopolysaccharide (LPS) and the release of TNF- ! was measured. Additionally, the G/A polymorphisms at position -238 and -308 of the TNF- ! gene were determined by PCR and RFLP analysis in 178 hemochromatosis patients and 41 controls. Results: TNF- ! production from PBMC at 8 and 24 r h after increasing concentrations of LPS stimulation were similar in the four groups. The prevalence of TNF- ! polymorphisms was similar in patients and controls. The prevalences of cirrhosis, siderosis, median s-ferritin and median ALT values were similar in patients with and without the TNF- ! polymorphisms. Conclusions: Neither TNF- ! released from PBMC nor the presence of TNF- ! polymorphisms seem to be associated with disease manifestation in hemochromatosis.