Bănescu Claudia, Iancu Mihaela, Trifa Adrian P, Macarie Ioan, Dima Delia, Dobreanu Minodora
Department of Medical Genetics, University of Medicine and Pharmacy, Tirgu Mures, Romania.
Tumour Biol. 2015 Apr;36(4):3101-7. doi: 10.1007/s13277-014-2946-1. Epub 2014 Dec 16.
The methylenetetrahydrofolate reductase (MTHFR) 677 C>T and 1298 A>C polymorphisms are associated with variations in folate levels, a phenomenon linked to the development of various malignancies. The aim of this study was to investigate the influence of the 677 C>T and 1298 A>C polymorphisms in the MTHFR gene on the risk of developing chronic myeloid leukemia (CML). Our study included 151 patients with CML and 305 controls. The MTHFR 677 C>T and 1298 A>C polymorphisms were investigated by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and allele-specific PCR techniques. The CT and TT genotypes of the MTHFR 677 C>T polymorphism were associated with an increased risk of developing CML (odds ratio (OR) = 1.556, 95% confidence interval (CI) = 1.017-2.381, p value = 0.041, and OR = 1.897, 95% CI = 1.046-3.44, p value = 0.035, respectively). No association was observed between the prognostic factors (blasts, basophils, additional chromosomal abnormalities, EUTOS score, Sokal and Hasford risk groups) and the MTHFR 677 C>T and 1298 A>C variant genotypes in CML patients. Our study shows that the MTHFR 677 C>T polymorphism is significantly associated with the risk of CML in Romanian patients.
亚甲基四氢叶酸还原酶（MTHFR）677 C>T和1298 A>C多态性与叶酸水平的变化有关，这一现象与多种恶性肿瘤的发生相关。本研究的目的是调查MTHFR基因中677 C>T和1298 A>C多态性对慢性髓性白血病（CML）发生风险的影响。我们的研究纳入了151例CML患者和305例对照。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和等位基因特异性PCR技术对MTHFR 677 C>T和1298 A>C多态性进行检测。MTHFR 677 C>T多态性的CT和TT基因型与CML发生风险增加相关（比值比（OR）分别为1.556，95%置信区间（CI）=1.017 - 2.381，p值=0.041；以及OR = 1.897，95% CI = 1.046 - 3.44，p值=0.035）。在CML患者中，未观察到预后因素（原始细胞、嗜碱性粒细胞、额外染色体异常、EUTOS评分、Sokal和Hasford风险组）与MTHFR 677 C>T和1298 A>C变异基因型之间存在关联。我们的研究表明，MTHFR 677 C>T多态性与罗马尼亚患者CML的发生风险显著相关。
