Genetic Polymorphisms in Patients with Myelodysplastic Syndrome

Gyulai, Zsófia and Balog, A. and Borbényi, Zita and Mándi, Yvette (2005) Genetic Polymorphisms in Patients with Myelodysplastic Syndrome. Acta Microbiologica et Immunologica Hungarica, 52 (3-4). pp. 463-475. ISSN 1217-8950

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Abstract

Myelodysplastic syndrome (MDS) is a family of clonal disorders characterized by dyshematopoiesis and susceptibility to acute myelogenous leukemia. Tumor necrosis factor-a (TNF-α) and transforming growth factor-b (TGF-β) are cytokines that play key roles in the pathogenesis of MDS. There have been several reports on the presence of genetic polymorphisms in the DNA sequence encoding the leader sequence of the TGF-β 1 protein, and in the -308 promoter region of TNF-α. The association between TNF-α and TGF-β 1 gene polymorphism and the susceptibility to MDS and the progression of the disease was investigated. As compared with healthy control subjects (n = 74), patients with MDS (n = 55) showed no significant deviations in genotype or allele frequencies of TNF-α. Similarly, there were no differences in the distribution of TNF-α genotypes between the MDS patients with only anemia (mild group) and those with bi- or pancytopenia (severe group). On the other hand the TT homozygosity at codon 10 in exon 1 of TGF-β 1 gene was associated with a severe degree of cytopenia [95% CI OR = 4.889, p = 0.0071]. These findings suggest that the investigated genetic polymorphisms do not predispose to the development of MDS, but that TGF-β 1 gene polymorphism may affect the disease progression.

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