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首页> 外文期刊>Pathobiology: journal of immunopathology, molecular and cellular biology >Clinical importance of transforming growth factor-beta but not of tumor necrosis factor-alpha gene polymorphisms in patients with the myelodysplastic syndrome belonging to the refractory anemia subtype.
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Clinical importance of transforming growth factor-beta but not of tumor necrosis factor-alpha gene polymorphisms in patients with the myelodysplastic syndrome belonging to the refractory anemia subtype.

机译：在属于难治性贫血亚型的骨髓增生异常综合征患者中，转化生长因子-β而非肿瘤坏死因子-α基因多态性的临床重要性。

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OBJECTIVES: Tumor necrosis factor-alpha (TNF-alpha) and transforming growth factor-beta (TGF-beta) are cytokines that play key roles in the myelodysplastic syndrome (MDS). There have been several reports on the presence of genetic polymorphisms in the DNA sequence encoding the leader sequence of the TGF-beta1 protein, located in codon 10 in exon 1 and in the -308 promoter region of TNF-alpha. The objective of this study was to investigate the association between TNF-alpha and TGF-beta1 gene polymorphisms and the susceptibility to MDS and the progression of the disease among patients with MDS belonging to the refractory anemia (RA) subtype. METHODS: The diagnosis of MDS (n = 50) was based on the FAB criteria. The TNF-alpha genotypes were analyzed by PCR-RFLP and the TGF-beta genotypes were analyzed using an amplification refractory mutation system. RESULTS AND CONCLUSIONS: Compared with healthy control subjects, patients with RA showed no significant deviations in genotype or allele frequencies of TNF-alpha. The TT homozygosity at codon 10 of TGF-beta1 was significantly higher among patients with bi- or pancytopenia (severe group) than in the patients with anemia only (mild group; odds ratio = 6.99, p = 0.003). These findings suggest that the TGF-beta1 gene polymorphism in codon 10 and the -308 TNF-alpha gene polymorphism do not predispose to the development of RA, but the TGF-beta1 gene polymorphism may affect disease progression.
机译：目的：肿瘤坏死因子-α（TNF-alpha）和转化生长因子-β（TGF-beta）是在骨髓增生异常综合症（MDS）中起关键作用的细胞因子。关于编码TGF-β1蛋白质前导序列的DNA序列中存在遗传多态性的报道已有几篇，它们位于外显子1的密码子10和TNF-α的-308启动子区域。这项研究的目的是调查难治性贫血（RA）亚型的MDS患者中TNF-α和TGF-beta1基因多态性与MDS敏感性和疾病进展之间的关系。方法：MDS（n = 50）的诊断基于FAB标准。通过PCR-RFLP分析TNF-α基因型，并使用扩增难治性突变系统分析TGF-β基因型。结果与结论：与健康对照组相比，RA患者的TNF-α基因型或等位基因频率无明显差异。患有双细胞或全血细胞减少症的患者（严重组）的TGF-β1密码子10的TT纯合性明显高于仅患有贫血的患者（轻度组;优势比= 6.99，p = 0.003）。这些发现表明，密码子10中的TGF-β1基因多态性和-308TNF-α基因多态性并不促进RA的发生，但是TGF-β1基因多态性可能影响疾病的进展。

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