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

フォーマット:

論文

責任表示:

Kanayama, Yuuju ; Kasamatsu, Tetsuhiro ; Awata, Maaya ; Ishihara, Rei ; Murakami, Yuki ; Masuda, Yuta ; Gotoh, Nanami ; Handa, Hiroshi ; Saitoh, Takayuki ; Murakami, Hirokazu

言語:

英語

出版情報:

北関東医学会, 2020-11-01

著者名:

Kanayama, Yuuju

Kasamatsu, Tetsuhiro

Awata, Maaya

Ishihara, Rei

Murakami, Yuki

Masuda, Yuta

Gotoh, Nanami

Handa, Hiroshi

Saitoh, Takayuki

Murakami, Hirokazu

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掲載情報:

The Kitakanto medical journal = 北関東医学

巻:

70

通号:

4

開始ページ:

315

終了ページ:

323

バージョン:

VoR

概要:

Journal Article<br />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 polymorphism … s (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. 続きを見る