Thalassemia is not associated with G A IRP1 polymorphism rs867469 gene polymorphism in Turkish population

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Kayaaltı Z., Kaya Akyüzlü D., Kartal Y., Özdemir F., Söylemezoğlu T.

51st Congress of the European Societies of Toxicology, Porto, Portugal, 13 - 16 September 2015, vol.238, pp.380 identifier

  • Publication Type: Conference Paper / Summary Text
  • Volume: 238
  • Doi Number: 10.1016/j.toxlet.2015.08.1084
  • City: Porto
  • Country: Portugal
  • Page Numbers: pp.380


Question: Repeated blood transfusions that is required to prevent anemia and to repress the ineffective erythropoiesis result in iron overload in thalassemia patients. Iron-regulatory protein 1 (IRP1) plays an important role in iron metabolism by binding to iron-responsive elements that are present in the untranslated region of mRNAs encoding iron-related proteins including ferritin, transferrin receptor and ferroportin. Thus, the aim of this study to examine whether there is a difference between thalassemia patients and control groups in G > A-IRP1 genotype distribution. Methods: The study population comprised 50 genetically unrelated thalassemia patients (25 female and 25 male) and 50 healthy unrelated controls (25 female and 25 male). The genotypes of G > A-IRP1 polymorphism were determined by the allele-specific oligonucleotide-Polymerase Chain Reaction (ASO-PCR) method. Results: No statistically significant difference was determined between the patient and control groups in G > A-IRP1 genotype distribution (p > 0.05). There was not a significant difference between G > A-IRP1 gene polymorphism and genders (p > 0.05). Also, there was not any statistically significant association between thalassemia patients and controls with regard to gender (p > 0.05). Conclusions: This study indicated that thalassemia was not associated with G > A-IRP1 gene polymorphism in Turkish population. Further studies with larger study groups and different populations can elucidate the influence of this polymorphism on thalassemia. This study is supported by the Scientific and Technical Research Council of Turkey (TUBITAK) by the project number 114S312.