@article{oai:gunma-u.repo.nii.ac.jp:00009884,
 author = {Kanayama, Yuuju and Kasamatsu, Tetsuhiro and Awata, Maaya and Ishihara, Rei and Murakami, Yuki and Masuda, Yuta and Gotoh, Nanami and Handa, Hiroshi and Saitoh, Takayuki and Murakami, Hirokazu},
 issue = {4},
 journal = {The Kitakanto medical journal = 北関東医学},
 month = {Nov},
 note = {Journal Article, 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±2.19 g/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.},
 pages = {315--323},
 title = {SF3A1 Gene Polymorphism Affects Clinical Features, but not Susceptibility to Myelodysplastic Syndromes},
 volume = {70},
 year = {2020}
}