Toll-like receptor 4 +896A/G and +1196C/T single-nucleotide polymorphisms in primary immune thrombocytopenia

• 1、 State Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Disease Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College
• 2、 State Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Disease Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300020

Abstract：Toll like receptor 4 takes part in the activation of immune cells and triggers a pro-inflammatory response by activating of the nuclear factor-κB pathway, thus dysregulation in TLR4 signaling might be associated with autoimmunity. Consideration the effects of TLR4 +896A/G and +1196C/T single-nucleotide polymorphisms (SNPs) on TLR4 signaling and abnormal expression of TLR4 on monocytes from patients with primary immune thrombocytopenia (ITP), we speculated there was an association between the TLR4 polymorphisms and genetic susceptibility to ITP in a Chinese Han population. Therefore, we analyzed the +896A/G and +1196C/T SNP by sequencing in 151 ITP patients and 152 healthy controls. The result showed that the mutated alleles in the +896A/G and +1196C/T site were not detected in both ITP patients and normal controls. Therefore, for TLR4 +896A/G site, the allele frequencies were 100% for A and 0 for G, the genotype frequencies were 100% for AA, 0 for AG and 0 for GG. For TLR4 +1196 C/T site, the allele frequencies were 100% for C and 0 for T. the genotype frequencies were 100% for CC, 0 for CT and 0 for TT. In conclusion, the TLR4 +896 G and +1196 T alleles have a markedly reduced frequency in northern Chinese population, and the gene polymorphisms neither for TLR4 +896A/G nor for +1196C/T site may be associated with susceptibility to ITP in a Chinese Han population.)

keywords： TLR4 polymorphism ITP

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