The effect of granulocyte colony stimulating factor receptor gene missense single nucleotide polymorphisms on peripheral blood stem cell enrichment.

Granulocyte-colony stimulating factor (G-CSF) has become the most effective agent supporting hematopoietic stem cell transplantation (HSCT). The cognate interaction between G-CSF and its specific receptor, G-CSFR, induces the mobilization of HSCs and increases their pool in the peripheral blood. G-CSFR has a highly conserved structure which may be functionally modulated by the presence of missense single nucleotide polymorphisms (SNPs). In this study, we asked whether the missense SNPs in G-CSFR could affect the response to G-CSF in HSCT patients and donors. Here, for the first time, G-CSFR missense SNPs were screened and minor allele frequencies were determined in a specific population with Turkish racial background. Five (rs3917991, rs3918001, rs3918018, rs3918019, and rs146617729) out of 16 missense SNPs screened were determined with minor allele frequencies lower than 0.04. Subsequent association analyses indicated potential impact of rs3918001, rs3918018, and rs3918019 minor alleles on peripheral blood CD34(+) cell enrichment. Although their frequency is rather low, certain missense SNPs, especially which are placed in the conserved regions of G-CSFR may possess the capacity to influence the response to G-CSF treatment.