Genetic variant of the G-CSF receptor gene is associated with lower mobilization potential and slower recovery of granulocytes after transplantation of autologous peripheral blood progenitor cells

Peripheral blood mobilized by cytokines (i.e. granulocyte colony stimulating factor, G-CSF) and chemotherapy has become a major source of hematopoietic stem and progenitor cells for transplantation (PBPCT). In this study the effect of the G-CSF receptor (CSF3R) gene polymorphism was investigated. The presence of the CSF3R variant (T allele, rs3917924) was related to CD34+ mobilization yield and the pace of granulocyte recovery after autologous PBPCT. The mobilization yield was higher in patients lacking the CSF3R variant (OR = 4.756, p = 0.046) and those with multiple myeloma (OR = 10.534, p = 0.019). The pace of granulocyte recovery was found to be associated with the CSF3R polymorphism and was significantly slower in patients carrying the CSF3R-T variant than in CC homozygotes (median of 17 vs. 13 days, p < 0.001). This association was confirmed (OR = 4.445, p = 0.014) by multiple regression analysis considering patient age and sex, the number of transplanted CD34+ cells, diagnosis and CSF3R polymorphism. These results imply that CSF3R gene polymorphism plays a significant role in PBPCT.

► CSF3R gene polymorphism rs3917924 was investigated in autologous PBPCT recipients. ► Mobilization yield and pace of hematological recovery were studied. ► Lack of CSF3R variant (T allele) was associated with better mobilization potential. ► Slower recovery of granulocytes characterized patients with CSF3R-T allele.