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Human leukocyte antigen association in idiopathic thrombotic thrombocytopenic purpura: evidence for an immunogenetic link.

Authors: Scully, M  Brown, J  Patel, R  McDonald, V  Brown, CJ  Machin, S 
Citation: Scully M, etal., J Thromb Haemost. 2010 Feb;8(2):257-62. doi: 10.1111/j.1538-7836.2009.03692.x. Epub 2009 Nov 17.
Pubmed: (View Article at PubMed) PMID:19922436
DOI: Full-text: DOI:10.1111/j.1538-7836.2009.03692.x

BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is a rare, acute, life-threatening disorder, associated with a deficiency in ADAMTS 13. The majority of acute, idiopathic, adult TTP cases are associated with anti-ADAMTS 13 IgG antibodies. However, the factor(s) precipitating an acute TTP episode are not always obvious; indeed, a multifactorial etiology is likely. OBJECTIVES AND METHODS: DNA was used for human leukocyte antigen (HLA) class II typing, using polymerase chain reaction (PCR)-sequence-specific primer and PCR-sequence-specific oligonucleotide probe to methodology to investigate 50 European acquired idiopathic TTP cases. RESULTS: There was an increase in the frequency of HLA-DQB1*0301 (HLA-DQ7) in patients with TTP as compared with controls [58.0% vs. 34.5% (P=0.048)]. The frequencies of HLA-DRB1*11 and HLA-DRB3* were also significantly increased in TTP patients as compared with controls [44.0% vs. 12.0% (P=0.0024) and 84.0% vs. 58.0% (P=0.024)], although it remains uncertain whether susceptibility is influenced by HLA-DQ or HLA-DR molecules or other genes in this haplotype. The frequencies of HLA-DRB1*04 and HLA-DRB4 (HLA-DR53) were significantly decreased in the patient group as compared with controls [10.0% vs. 35.0% and 26.0% vs. 61.5% (P=0.0096 and P=0.0024, respectively)], and may have a protective effect against the development of TTP. CONCLUSION: Analysis identified HLA class II types associated with susceptibility to and a protective effect against the development of acute acquired TTP in European patients. This provides the first description of a genetic factor predicting the risk of developing acquired antibody-mediated TTP.


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CRRD Object Information
CRRD ID: 11041754
Created: 2016-03-28
Species: All species
Last Modified: 2016-03-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.