Abstract：
INTRODUCTION:Thrombotic storm (TS) presents as a severe, acute thrombotic phenotype, characterized by multiple clotting events and frequently affecting younger adults. Understanding the extensive hypercoagulation of an extreme phenotype as TS will also provide insight into the pathogenesis of a wider spectrum of thrombotic disorders. MATERIAL AND METHODS:We completed whole exome sequencing on 26 TS patients, including 1 multiplex family, 13 trios and 12 isolated TS patients. We examined both dominant and recessive inheritance models for known thrombotic factors as well as performed a genome-wide screen. Identified genes of interest in the family and trios were screened in the remaining TS patients. Variants were filtered on frequency (<5% in 1000 genomes), conservation and function in gene and were annotated for effect on protein and overall functionality. RESULTS:We observed an accumulation of variants in genes linked to chondroitin sulfate (CS), but not heparan sulfate metabolism. Sixteen conserved, rare missense and nonsense variants in genes involved in CS metabolism (CHPF, CHPF2, CHST3, CHST12, CHST15, SLC26A2, PAPSS2, STAB2) were identified in over one-third of the TS patients. In contrast, we identified only seven variants in known thrombosis genes (including FV Leiden). CONCLUSIONS:As CS has multiple functions in the glycocalyx protecting the endothelial cells, reduced availability of CS could diminish the normal control mechanisms for blood coagulation, making these CS metabolism genes strong potential risk factors for TS. Overall, no single gene was identified with strong evidence for TS causality; however, our data suggest TS is mediated by an accumulation of rare pro-thrombotic risk factors.
journal_name
Thromb Resjournal_title
Thrombosis researchauthors
Nuytemans K,Ortel TL,Gomez L,Hofmann N,Alves N,Dueker N,Beecham A,Whitehead P,Hahn Estabrooks S,Kitchens CS,Erkan D,Brandão LR,James AH,Kulkarni R,Manco-Johnson MJ,Pericak-Vance MA,Vance JMdoi
10.1016/j.thromres.2017.11.016subject
Has Abstractpub_date
2018-01-01 00:00:00pages
43-51eissn
0049-3848issn
1879-2472pii
S0049-3848(17)30566-2journal_volume
161pub_type
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journal_title：Thrombosis research
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pub_type： 临床试验,杂志文章
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journal_title：Thrombosis research
pub_type： 杂志文章
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doi：10.1016/0049-3848(87)90317-3
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pub_type： 杂志文章,评审
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更新日期：2016-07-01 00:00:00
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pub_type： 杂志文章
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更新日期：2000-07-01 00:00:00
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更新日期：2013-03-01 00:00:00
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pub_type： 杂志文章
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更新日期：2000-01-15 00:00:00
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pub_type： 杂志文章
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更新日期：2008-01-01 00:00:00
