Cytokine and Gene Expression Profiling in Patients with HFE-Associated Hereditary Hemochromatosis according to Genetic Profile.

Autor:	Grønlien HK; Faculty of Health and Welfare Sciences, Østfold University College, Halden, Norway., Christoffersen TE; Faculty of Engineering, Østfold University College, Halden, Norway., Nystrand CF; Center for Laboratory Medicine, Østfold Hospital Trust, Grålum, Norway., Garabet L; Center for Laboratory Medicine, Østfold Hospital Trust, Grålum, Norway.; Department of Multidisciplinary Laboratory Medicine and Medical Biochemistry, Akershus University Hospital, Lørenskog, Norway., Syvertsen T; Center for Laboratory Medicine, Østfold Hospital Trust, Grålum, Norway., Moe MK; Department of Multidisciplinary Laboratory Medicine and Medical Biochemistry, Akershus University Hospital, Lørenskog, Norway., Olstad OK; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Jonassen CM; Center for Laboratory Medicine, Østfold Hospital Trust, Grålum, Norway, Christine.Monceyron.Jonassen@so-hf.no.; Department of Chemistry, Biotechnology and Food Sciences, The Norwegian University of Life Sciences, Ås, Norway, Christine.Monceyron.Jonassen@so-hf.no.
Jazyk:	angličtina
Zdroj:	Acta haematologica [Acta Haematol] 2021; Vol. 144 (4), pp. 446-457. Date of Electronic Publication: 2020 Dec 16.
DOI:	10.1159/000511551
Abstrakt:	Background: Hemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is characterized by downregulation of hepcidin synthesis, leading to increased intestinal iron absorption. Objectives: The objectives were to characterize and elucidate a possible association between gene expression profile, hepcidin levels, disease severity, and markers of inflammation in HFE-associated HH patients. Methods: Thirty-nine HFE-associated HH patients were recruited and assigned to 2 groups according to genetic profile: C282Y homozygotes in 1 group and patients with H63D, as homozygote or in combination with C282Y, in the other group. Eleven healthy first-time blood donors were recruited as controls. Gene expression was characterized from peripheral blood cells, and inflammatory cytokines and hepcidin-25 isoform were quantified in serum. Biochemical disease characteristics were recorded. Results: Elevated levels of interleukin 8 were observed in a significant higher proportion of patients than controls. In addition, compared to controls, gene expression of ζ-globin was significantly increased among C282Y homozygote patients, while gene expression of matrix metalloproteinase 8, and other neutrophil-secreted proteins, was significantly upregulated in patients with H63D. Conclusion: Different disease signatures may characterize HH patients according to their HFE genetic profile. Studies on larger populations, including analyses at protein level, are necessary to confirm these findings. (The Author(s). Published by S. Karger AG, Basel.)
Databáze:	MEDLINE
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