SF3A1 Gene Polymorphism Affects Clinical Features, but not Susceptibility to Myelodysplastic Syndromes

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Background and aims: Recently, genome-wide analyses have revealed mutations in spliceosome machinery associated with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).Single-nucleotide polymorphisms (SNPs) of serine╱arginine-rich splicing factor 2 (SRSF2) and splicing factor 3a subunit 1 (SF3A1) were investigated in a Japanese population of patients and healthy control group.We aimed to find associations with prognosis and pathology.Methods: We obtained genomic DNA from 99 patients with MDS, 92 patients with AML, and 172 healthy controls and detected SRSF2 (rs237057) and SF3A1 (rs2074733) genotypes using polymerase chain reaction-restriction fragment length polymorphism.Results: There was no statistical significance to associate these polymorphisms with susceptibility to MDS╱AML.However, the SF3A1 rs2074733 TC was significantly associated with higher hemoglobin level, compared to the TT genotype (mean±standard deviation, 10.6±1.63 vs 9.09±2.19g╱dL; P＝0.022).In addition, patients with rs2074733 TC showed a significantly lower frequency of chromosomal abnormality [2 (18.2%) vs. 46 (53.5%),P＝0.027].We observed no statistical significance between these polymorphisms and clinical variables for AML, or the prognosis of MDS and AML.Conclusions: Our study indicates that the SF3A1 rs2074733 TC genotype is associated with some clinical features of MDS.