Cytokine and cytokine receptor gene polymorphisms and their functionality |
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| Institution: | 1. Department of Haematology, Oncology and Internal Diseases, Medical University and University Hospital, 1A Banacha Str., 02-097 Warsaw, Poland;2. Department of Haematology, Faculty of Medicine Jagiellonian University, 19 Kopernika Str., 31-501 Cracow, Poland;3. Department of Clinical Genetics, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, 9 Skłodowska-Curie Str., 85-094 Bydgoszcz, Poland;4. Department of Haematology, Blood Neoplasms, and Bone Marrow Transplantation, Medical University, 4 Pasteura Str., 50-367 Wrocław, Poland;5. Institute of Haematology and Transfusion Medicine, 14 Gandhi Str., 02-776 Warsaw, Poland;6. Department of Haematology, Copernicus Hospital, 17/19 Batory Str., 87-100 Toruń, Poland;7. Department of Haematology, Dr Biziel University Hospital, 75 Ujejskiego Str., 85-168 Bydgoszcz, Poland;8. Department of Hematology and Bone Marrow Transplantation, Medical University of Silesia, 20/24 Francuska str., 40-027 Katowice, Poland;9. Department of Hematology, SPZOZ ZSM Chorzów, 11 Strzelców Bytomskich Str., 41-500 Chorzów, Poland |
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| Abstract: | Cytokines, signaling proteins produced by a variety of cell types, are essential for the development and functioning of both innate and adaptive immune response. Cytokine gene expression is tightly regulated, and aberrant expression from environmental and genetic polymorphism has been implicated in a range of diseases, susceptibility to infections, and responses to treatment. This review concentrates on the functionality of cytokine and cytokine receptor gene polymorphisms; it is through these variants that genuine disease-associations are based. Several mechanisms for single nucleotide polymorphism (SNP) functionality are present within cytokine genes including: amino acid changes (IL-6R, IL-13, IL-1α), exon skipping (IL-7Rα), proximal promoter variants (IL-1β, IL-Ra, IL-2, IL-6, IL-10, IL-12, IL-13, IL-16, TNF, IFN-γ, TGF-β), distal promoter variants (IL-6, IL-18) and intronic enhancer variants (IL-8). |
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