| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2023-03-23 |
| タイトル |
|
|
タイトル |
SF3A1 Gene Polymorphism Affects Clinical Features, but not Susceptibility to Myelodysplastic Syndromes |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
spliceosome machinery |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
serine/arginine-rich splicing factor 2 |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
splicing factor 3a subunit 1 |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
single-nucleotide polymorphisms |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
myelodysplastic syndromes |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
Kanayama, Yuuju
Kasamatsu, Tetsuhiro
Awata, Maaya
Ishihara, Rei
Murakami, Yuki
Masuda, Yuta
Gotoh, Nanami
Handa, Hiroshi
Saitoh, Takayuki
Murakami, Hirokazu
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
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. |
| 書誌情報 |
The Kitakanto medical journal = 北関東医学
巻 70,
号 4,
p. 315-323,
発行日 2020-11-01
|
| ISSN |
|
|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
1343-2826 |
| 書誌レコードID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AN10585677 |
| 著者版フラグ |
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|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 出版者 |
|
|
出版者 |
北関東医学会 |
| 資源タイプ |
|
|
内容記述タイプ |
Other |
|
内容記述 |
Journal Article |
70_315.pdf (569 KB)
