The role of human leukocyte antigen DRB1-DQB1 haplotypes in the susceptibility to acquired idiopathic thrombotic thrombocytopenic purpura

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• 作者：Gyö ; rgy Sinkovits^a ; ^{gysinkovits@gmail.com} ; Á ; gnes Szilá ; gyi^a ; Pé ; ter Farkas^a ; Dó ; ra Inotai^b ; Anikó ; Szilvá ; si^b ; Attila Tordai^c ; Katalin Rá ; zsó ; ^d ; Marienn Ré ; ti^e ; Zoltá ; n Prohá ; szka^a
• 关键词：Thrombotic thrombocytopenic purpura ; HLA-DRB1-DQB1 haplotypes ; PTPN22 c.1858C> ; T polymorphism ; Gender
• 刊名：Human Immunology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：78
• 期：2
• 页码：80-87
• 全文大小：451 K
• 卷排序：78

文摘

The acquired form of idiopathic thrombotic thrombocytopenic purpura (TTP) is an autoimmune disease, in which the underlying ADAMTS13-deficiency is caused by inhibitory autoantibodies against the protease. Human leukocyte antigens (HLA), responsible for antigen presentation, play an important role in the development of antibodies. The loci coding HLA DR and DQ molecules are inherited in linkage as haplotypes. The c.1858C>T polymorphism of the PTPN22 gene, which codes a protein tyrosine phosphatase important in lymphocyte activation, predisposes to a number of autoimmune diseases. We determined the HLA-DRB1-DQB1 haplotypes and the PTPN22 c.1858C>T genotypes in 75 patients with acquired idiopathic TTP and in healthy controls, in order to assess the role of these genetic factors and their interactions in the susceptibility to TTP. We found that the carrier frequencies of the DRB1∗11-DQB1∗03 and DRB1∗15-DQB1∗06 haplotypes were higher, while those of the DRB1∗07-DQB1∗02 and DRB1∗13-DQB1∗06 haplotypes were lower in TTP patients. There was no difference in the overall frequency of the PTPN22 c.1858T allele between TTP patients and controls. In conclusion, we identified four HLA-DRB1-DQB1 haplotypes associated with an increased (DRB1∗11-DQB1∗03 and DRB1∗15-DQB1∗06) or a decreased (DRB1∗07-DQB1∗02 and DRB1∗13-DQB1∗06) susceptibility to acquired idiopathic TTP.