Polymorphisms in TGFβ and TNFα are associated with the myelodysplastic syndrome phenotype

Martin P. Powers, Ha Nishino, Yamin Luo, Alina Raza, Amulya Vanguri, Lawrence Rice, Youli Zu, Chung Che Chang

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Context. - Myelodysplastic syndromes (MDSs) are characterized by ineffective hematopoiesis, excessive apoptosis, and the aberrant expression of a number of cytokines. The genes encoding these cytokines are significantly polymorphic. It is unknown whether these cytokine polymorphisms are associated with, and may therefore be playing a role in the pathogenesis of, MDS. Objective. - To determine if certain polymorphisms in the tumor necrosis factor α (TNF-α) and transforming growth factor β (TGF-β) cytokines are overrepresented in a cohort of patients with MDSs. Design. - DNA was isolated from the peripheral blood or bone marrow aspirate of 21 patients with MDS. The genotypes for 4 different polymorphisms, 2 in TNFα and 2 in TGFβ1, were determined using single-specific-primer polymerase chain reaction. The allele and genotype frequencies were compared with similar populations in the National Cancer Institute SNP500 database. Results. - In our MDS population, the -308A/A genotype of the TNFα gene and the TGFβ1 allele +29T and genotype +29T/T, each associated with higher levels of expression, were overrepresented in our MDS population. Conclusions. - Polymorphisms associated with increased expression in the cytokines TNFα and TGFβ1 are overrepresented in the MDS population suggesting that increased TNF-α and TGF-β1 activity may contribute to the susceptibility and/or pathogenesis of MDS. Further studies with larger sample sizes are warranted to confirm our observation.

Original languageEnglish
Pages (from-to)1789-1793
Number of pages5
JournalArchives of Pathology and Laboratory Medicine
Issue number12
StatePublished - Dec 2007


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