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Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis.
Tissue Antigens. 2007 Oct; 70(4):294-300.TA

Abstract

Monocyte chemoattractant protein-1 (MCP-1) is a major lymphocyte and inflammatory chemokine associated with persistent inflammatory states. Several abnormalities in the immune status of patients with hereditary hemochromatosis (HH) have been reported, suggesting an imbalance in their immune function. This may include persistent production of, or exposure to, inflammatory cytokines contributing to the pathogenesis of this disorder. The aim of this study was to assess MCP-1 levels in patients with HH and correlate these results with HFE status and iron indexes. One hundred and thirty-nine subjects diagnosed with HH (C282Y homozygotes = 87, C282Y/H63D = 26 heterozygotes, H63D homozygotes = 26), 27 healthy control subjects with no HFE mutation (N/N), and 18 normal subjects heterozygous for the H63D mutation served as age- and sex-matched controls. Ferritin and transferrin saturation and the presence of HFE mutation status were correlated with MCP-1 levels. Full white blood cell count analysis was also performed. We found a strongly significant decrease in MCP-1 protein levels in the C282Y homozygotes compared with the H63D homozygotes (P = 0.0009) and C282Y/H63D heterozygotes (P = 0.002). Similarly, MCP-1 protein levels in the C282Y homozygotes were decreased compared with the healthy controls (P = 0.00076). Furthermore, MCP-1 serum levels were elevated in H63D patients compared with the healthy controls (P = 0.0008). This study suggests for the first time that a differential expression of MCP-1 protein in patients with HH is associated with the specific HFE genetic component for iron overload. Therefore, these findings offer a possible explanation in the variable clinical spectrum of pathogenesis in patients with HH through abnormalities of an imbalance in the immune states of patients with HH.

Authors+Show Affiliations

Hepatology Research Division and Department of Clinical Medicine, Institute of Molecular Medicine, Trinity College Dublin, St James Hospital, Dublin 8, Ireland. mlawles@tcd.ieNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17767550

Citation

Lawless, M W., et al. "Elevated MCP-1 Serum Levels Are Associated With the H63D Mutation and Not the C282Y Mutation in Hereditary Hemochromatosis." Tissue Antigens, vol. 70, no. 4, 2007, pp. 294-300.
Lawless MW, White M, Mankan AK, et al. Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis. Tissue Antigens. 2007;70(4):294-300.
Lawless, M. W., White, M., Mankan, A. K., O'Dwyer, M. J., & Norris, S. (2007). Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis. Tissue Antigens, 70(4), 294-300.
Lawless MW, et al. Elevated MCP-1 Serum Levels Are Associated With the H63D Mutation and Not the C282Y Mutation in Hereditary Hemochromatosis. Tissue Antigens. 2007;70(4):294-300. PubMed PMID: 17767550.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis. AU - Lawless,M W, AU - White,M, AU - Mankan,A K, AU - O'Dwyer,M J, AU - Norris,S, PY - 2007/9/5/pubmed PY - 2007/12/6/medline PY - 2007/9/5/entrez SP - 294 EP - 300 JF - Tissue antigens JO - Tissue Antigens VL - 70 IS - 4 N2 - Monocyte chemoattractant protein-1 (MCP-1) is a major lymphocyte and inflammatory chemokine associated with persistent inflammatory states. Several abnormalities in the immune status of patients with hereditary hemochromatosis (HH) have been reported, suggesting an imbalance in their immune function. This may include persistent production of, or exposure to, inflammatory cytokines contributing to the pathogenesis of this disorder. The aim of this study was to assess MCP-1 levels in patients with HH and correlate these results with HFE status and iron indexes. One hundred and thirty-nine subjects diagnosed with HH (C282Y homozygotes = 87, C282Y/H63D = 26 heterozygotes, H63D homozygotes = 26), 27 healthy control subjects with no HFE mutation (N/N), and 18 normal subjects heterozygous for the H63D mutation served as age- and sex-matched controls. Ferritin and transferrin saturation and the presence of HFE mutation status were correlated with MCP-1 levels. Full white blood cell count analysis was also performed. We found a strongly significant decrease in MCP-1 protein levels in the C282Y homozygotes compared with the H63D homozygotes (P = 0.0009) and C282Y/H63D heterozygotes (P = 0.002). Similarly, MCP-1 protein levels in the C282Y homozygotes were decreased compared with the healthy controls (P = 0.00076). Furthermore, MCP-1 serum levels were elevated in H63D patients compared with the healthy controls (P = 0.0008). This study suggests for the first time that a differential expression of MCP-1 protein in patients with HH is associated with the specific HFE genetic component for iron overload. Therefore, these findings offer a possible explanation in the variable clinical spectrum of pathogenesis in patients with HH through abnormalities of an imbalance in the immune states of patients with HH. SN - 0001-2815 UR - https://www.unboundmedicine.com/medline/citation/17767550/Elevated_MCP_1_serum_levels_are_associated_with_the_H63D_mutation_and_not_the_C282Y_mutation_in_hereditary_hemochromatosis_ L2 - https://doi.org/10.1111/j.1399-0039.2007.00895.x DB - PRIME DP - Unbound Medicine ER -