International Journal of Hematology and Oncology 2020, Vol 30, Num 2 Page(s): 012-018
Association of TGFβ1 Gene (+915G>C) Polymorphism with Chronic Lymphocytic Leukemia

M. Yunus ALP1, Mustafa YILMAZ2, Alper H. CEBI3, Mevlit IKBAL3

1Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Medical Genetics, Ankara, TURKEY
2Karadeniz Technical University, Medical Faculty, Department of Hematology, Trabzon, TURKEY
3Department of Medical Genetics, Karadeniz Technical University, Medical Faculty, Trabzon, TURKEY

Keywords: Chronic lymphocytic leukemia, TGFβ1 polymorphism, Trisomy 12
TGFβ1 is an important cytokine acts as an antiinflammatory agent, and inhibits B cell proliferation. In patients with chronic lymphocytic leukemia (CLL), serum level of TGFβ1 are found elevated. Presence of G allele at position +915 in TGFβ1 gene results in arginine synthesis which is associated with higher expression of TGFβ1. We investigated the association of TGFβ1 +915G>C polymorphism with predisposition, clinical characteristics and laboratory findings of CLL. 50 CLL patients and 50 healthy controls were included in this study. Genotypes were determined by PCR-RFLP method. We couldn’t find statistically significant differences between patient and control groups in terms of genotype distributions and allele frequencies. However, GC genotype frequency was slightly higher in CLL patients than healthy controls. Furthermore, TGFβ1 +915GC genotype was found associated with trisomy 12 (p= 0.007). Further studies are needed to clarify exact role of TGFβ1 +915G>C polymorphism in patients with CLL.