. 2014; 31(1): 17-24 | DOI: 10.4274/Tjh.2012.0197 | |||
Ağır Hemofili A Hastalarında İnhibitör Gelişimi ile IL-5 Genindeki Bir Polimorfizmin İlişkilendirilmesiİnanç Değer Fidancı1, Bülent Zülfikar2, Kaan Kavaklı3, M. Cem Ar4, Yurdanur Kılınç5, Zafer Başlar6, Server Hande Çağlayan11Boğaziçi University, Department Of Molecular Biology And Genetics, İstanbul, Turkey2İstanbul University Medical School, Institute Of Oncology, İstanbul, Turkey 3Ege University Medical School, Department Of Pediatric Hematology, İzmir, Turkey 4İstanbul Training And Education Hospital, Department Of Hematology, İstanbul, Turkey 5Çukurova University Medical School, Department Of Pediatric Hematology, Adana, Turkey 6İstanbul University Cerrahpaşa Medical Faculty, Department Of Internal Medicine, Division Of Hematology, İstanbul, Turkey AMAÇ: Hemofili A hastalarının replasman tedavisinde FVIII’i nötralize eden FVIII antikorların (inhibitör) oluşması ciddi bir komplikasyondur. F8 mutasyonları ile birlikte başka genetik risk faktörleri de inhibitor gelişimini etkilemektedir. Bunlar arasında B-lenfositlerinin regülasyonunda yer alan IL-4, IL-5, IL-10, TGF-β1 ve IFN-γ gibi interlökin ve sitokinler diğer genetik risk faktörleri olabilecek hedeflerdir. Bu çalışmanın amacı inhibitor geliştiren ağır hemofili hastalarında çeşitli yöntemlerle F8 mutasyon profilini ortaya çıkarmak ve bunu takiben, FVIII yapılmaması ile sonuçlanan F8 mutasyonlu inhibitör geliştiren HA hastalarında 9 seçilmiş interlökin ve sitokin gen polimorfizmleri ile inhibitor gelişimi arasındaki ilişkiyi irdelemektir. A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patientsİnanç Değer Fidancı1, Bülent Zülfikar2, Kaan Kavaklı3, M. Cem Ar4, Yurdanur Kılınç5, Zafer Başlar6, Server Hande Çağlayan11Boğaziçi University, Department Of Molecular Biology And Genetics, İstanbul, Turkey2İstanbul University Medical School, Institute Of Oncology, İstanbul, Turkey 3Ege University Medical School, Department Of Pediatric Hematology, İzmir, Turkey 4İstanbul Training And Education Hospital, Department Of Hematology, İstanbul, Turkey 5Çukurova University Medical School, Department Of Pediatric Hematology, Adana, Turkey 6İstanbul University Cerrahpaşa Medical Faculty, Department Of Internal Medicine, Division Of Hematology, İstanbul, Turkey OBJECTIVE: A severe complication in the replacement therapy of hemophilia A (HA) patients is the development of alloantibodies (inhibitors) against factor VIII, which neutralizes the substituted factor. The primary genetic risk factors influencing the development of inhibitors are F8 gene mutations. Interleukins and cytokines that are involved in the regulation of B-lymphocyte development are other possible targets as genetic risk factors. This study assesses the possible involvement of 9 selected single nucleotide gene polymorphisms (SNPs) with interleukins (IL-4, IL-5, and IL-10), transforming growth factor beta 1 (TGF-β1), and interferon gamma (IFN-γ) in inhibitor development in severely affected HA patients carrying a null mutation in the F8 gene. İnanç Değer Fidancı, Bülent Zülfikar, Kaan Kavaklı, M. Cem Ar, Yurdanur Kılınç, Zafer Başlar, Server Hande Çağlayan. A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients. . 2014; 31(1): 17-24 Sorumlu Yazar: Server Hande Çağlayan, Türkiye |
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