Academic Journal
Cytokine and Gene Expression Profiling in Patients with HFE-Associated Hereditary Hemochromatosis according to Genetic Profile
| العنوان: | Cytokine and Gene Expression Profiling in Patients with HFE-Associated Hereditary Hemochromatosis according to Genetic Profile |
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| المؤلفون: | Grønlien, Heidi Kristine, Christoffersen, Trine Eker, Nystrand, Camilla Furlund, Garabet, Lamya, Syvertsen, Terje, Moe, Morten K., Olstad, Ole Kristoffer, Jonassen, Christine Monceyron |
| المصدر: | Acta Haematologica ; volume 144, issue 4, page 446-457 ; ISSN 0001-5792 1421-9662 |
| بيانات النشر: | S. Karger AG |
| سنة النشر: | 2020 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1159/000511551 |
| الاتاحة: | http://dx.doi.org/10.1159/000511551 https://www.karger.com/Article/Pdf/511551 |
| Rights: | https://creativecommons.org/licenses/by-nc/4.0/ ; https://creativecommons.org/licenses/by-nc/4.0/ |
| رقم الانضمام: | edsbas.B8A5A033 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1159/000511551 |
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