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Zhonghua Xue Ye Xue Za Zhi. 2013 Oct;34(10):873-6. doi: 10.3760/cma.j.issn.0253-2727.2013.10.010.

[Relationship between polymorphisms of tumor necrosis factor alpha gene and primary myelodysplastic syndromes].

[Article in Chinese]

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Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, State Key Laboratory of Experimental Hematology, Tianjin 300020, China.



To investigate the association of single nucleus polymorphisms(SNP)of tumor necrosis factor alpha (TNF-α) gene (-308 G>A and -238 G>A genotypes) with susceptibility to primary myelodysplastic syndromes (MDS).


Two SNPs (TNF-α-308 G>A,TNF-α-238 G>A) of TNF-α gene were detected by Taqman probes in 341 MDS patients and 365 unrelated-healthy controls.


Compared to healthy controls, the frequency of TNF-α-308 AA+AG genotype and A allele increased (18% vs 10%, P=0.015, 9% vs 5%, P=0.021, respectively) in refractory cytopenia with multilineage dysplasia (RCMD) patients. There was no correlation of TNF-α-308 G>A genotype and allele frequency between MDS and controls. No difference in the genotype and allele frequency of TNF-α-238 G>A were found between controls and MDS or the subtypes of MDS (P>0.05). We did not find any linkage between plasma level of TNF-α and TNF-α-308 G>A or TNF-α-238 G>A genotype. Statistic differences were observed between platelet count[58(1-611)×10⁹/L vs 90(7-352)×10⁹/L]and bone marrow blasts in MDS patients carrying TNF-α-308 G>A GG and AA+AG genotype (P=0.024, 0.019, respectively).


TNF-α-308 G>A polymorphism was correlated with susceptibility to MDS-RCMD.

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