BACKGROUND: The majority of @entity9595 @entity1 are homozygous for the HFE- @entity14399 mutation. However, less than half of @entity14399 homozygous subjects identified by population screening studies actually develop the disease. The cytokine @entity310 is implicated in the regulation of @entity68 metabolism at different levels. Our aim was to study the role of @entity310 and its promoter polymorphisms in the phenotypic expression of @entity9595 in individuals with and without the @entity14399 mutation. METHODS: We studied 4 groups of 10 subjects each: (1) @entity14399 homozygotes without clinical @entity9595 ; (2) @entity14399 homozygotes with @entity9595 ; (3) secondary @entity9595 (without @entity14399 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 @entity310 was measured. Additionally, the G/A polymorphisms at position -238 and -308 of the @entity310 , gene were determined by PCR and RFLP analysis in 178 @entity9595 @entity1 and 41 controls. RESULTS: @entity310 production from PBMC at 8 and 24 h after increasing concentrations of LPS stimulation were similar in the four groups. The prevalence of @entity310 polymorphisms was similar in @entity1 and controls. The prevalences of @entity82 , @entity27791 , median s-ferritin and median ALT values were similar in @entity1 with and without the @entity310 polymorphisms. CONCLUSIONS: Neither @entity310 , released from PBMC nor the presence of @entity310 polymorphisms seem to be associated with disease manifestation in @entity9595 .

Tumour necrosis factor alpha and its promoter polymorphisms' role in the phenotypic expression of XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity82 :: ('MESH:D005355', 'Disease') :: ['cirrhosis'] @entity68 :: ('MESH:D007501', 'Chemical') :: ['iron'] @entity310 :: ('7124', 'Gene') :: ['TNF-alpha'] @entity27791 :: ('MESH:D012806', 'Disease') :: ['siderosis'] @entity14399 :: ('p|SUB|C|282|Y', 'ProteinMutation') :: ['C282Y'] @entity9595 :: ('MESH:D006432', 'Disease') :: ['hemochromatosis']
@entity9595 :: (MESH:D006432,Disease) :: ['hemochromatosis']
