Literature DB >> 32232851

Novel exomic rare variants associated with venous thrombosis.

Hiroshi Deguchi1, Meenal Shukla1, Mohammed Hayat1, Ali Torkamani1,2, Darlene J Elias1,3, John H Griffin1,4.   

Abstract

Exomic rare variant polymorphisms (c. 300 000) were analysed in the Scripps Venous Thrombosis (VTE) registry (subjects aged <55 years). Besides coagulation factor V (F5) single nucleotide polymorphisms (SNPs), family with sequence similarity 134, member B (FAM134B; rs78314670, Arg127Cys) and myosin heavy chain 8 (MYH8; rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (n = 34 cases) (false discovery rate-adjusted P < 0·05). FAM134B (rs78314670) was associated with low plasma levels of anticoagulant glucosylceramide. Analysis of 50 chr17p13.1 MYH rare SNPs (clustered skeletal myosin heavy chain genes) using collapsing methods was associated with recurrent VTE (P = 2·70 ×10-16 ). When intravenously injected, skeletal muscle myosin was pro-coagulant in a haemophilia mouse tail bleeding model. Thus, FAM134B and MYH genetic variants are plausibly linked to VTE risk.
© 2020 British Society for Haematology and John Wiley & Sons Ltd.

Entities:  

Keywords:  zzm321990FAM134Bzzm321990; zzm321990MYHzzm321990; glucosylceramide; myosin; venous thrombosis

Year:  2020        PMID： 32232851      PMCID： PMC7732677          DOI： 10.1111/bjh.16613

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


  15 in total

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Journal:  Blood Adv       Date:  2017-06-29

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Authors:  ZhangQin Yuan; DeGuang Song; YiZhen Wang
Journal:  Biochem Biophys Res Commun       Date:  2014-10-30       Impact factor: 3.575

Review 4.  Statistical analysis strategies for association studies involving rare variants.

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5.  Prothrombotic skeletal muscle myosin directly enhances prothrombin activation by binding factors Xa and Va.

Authors:  Hiroshi Deguchi; Ranjeet K Sinha; Patrizia Marchese; Zaverio M Ruggeri; Jevgenia Zilberman-Rudenko; Owen J T McCarty; Mitchell J Cohen; John H Griffin
Journal:  Blood       Date:  2016-07-15       Impact factor: 22.113

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7.  Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.

Authors:  Weihong Tang; Mary Rachel Stimson; Saonli Basu; Susan R Heckbert; Mary Cushman; James S Pankow; Aaron R Folsom; Nathan Pankratz
Journal:  J Thromb Haemost       Date:  2019-12-06       Impact factor: 5.824

8.  A large-scale exome array analysis of venous thromboembolism.

Authors:  Sara Lindström; Jennifer A Brody; Constance Turman; Marine Germain; Traci M Bartz; Erin N Smith; Ming-Huei Chen; Marja Puurunen; Daniel Chasman; Jeffrey Hassler; Nathan Pankratz; Saonli Basu; Weihua Guan; Beata Gyorgy; Manal Ibrahim; Jean-Philippe Empana; Robert Olaso; Rebecca Jackson; Sigrid K Braekkan; Barbara McKnight; Jean-Francois Deleuze; Cristopher J O'Donnell; Xavier Jouven; Kelly A Frazer; Bruce M Psaty; Kerri L Wiggins; Kent Taylor; Alexander P Reiner; Susan R Heckbert; Charles Kooperberg; Paul Ridker; John-Bjarne Hansen; Weihong Tang; Andrew D Johnson; Pierre-Emmanuel Morange; David A Trégouët; Peter Kraft; Nicholas L Smith; Christopher Kabrhel
Journal:  Genet Epidemiol       Date:  2019-01-19       Impact factor: 2.344

9.  Rare variant association studies: considerations, challenges and opportunities.

Authors:  Paul L Auer; Guillaume Lettre
Journal:  Genome Med       Date:  2015-02-23       Impact factor: 11.117

10.  Low level of the plasma sphingolipid, glucosylceramide, is associated with thrombotic diseases.

Authors:  Hiroshi Deguchi; Silvia Navarro; Amanda B Payne; Darlene J Elias; Nicole F Dowling; Harland D Austin; Francisco España; Pilar Medina; W Craig Hooper; John H Griffin
Journal:  Res Pract Thromb Haemost       Date:  2017-06-23
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  6 in total

Review 1.  Novel blood coagulation molecules: Skeletal muscle myosin and cardiac myosin.

Authors:  Hiroshi Deguchi; Shravan Morla; John H Griffin
Journal:  J Thromb Haemost       Date:  2020-10-25       Impact factor: 5.824

2.  Procoagulant activities of skeletal muscle and cardiac myosins require both myosin protein and myosin-associated anionic phospholipids.

Authors:  Shravan Morla; Hiroshi Deguchi; José A Fernández; Wolfram Ruf; Rolf A Brekken; John H Griffin
Journal:  Blood       Date:  2021-04-01       Impact factor: 22.113

3.  Skeletal muscle myosin promotes coagulation by binding factor XI via its A3 domain and enhancing thrombin-induced factor XI activation.

Authors:  Shravan Morla; Hiroshi Deguchi; Jevgenia Zilberman-Rudenko; András Gruber; Owen J T McCarty; Priyanka Srivastava; David Gailani; John H Griffin
Journal:  J Biol Chem       Date:  2022-01-07       Impact factor: 5.157

4.  Full-length plasma skeletal muscle myosin isoform deficiency is associated with coagulopathy in acutely injured patients.

Authors:  Julia R Coleman; Hiroshi Deguchi; Taichi K Deguchi; Mitchel J Cohen; Ernest E Moore; John H Griffin
Journal:  J Thromb Haemost       Date:  2022-03-20       Impact factor: 16.036

5.  Epidemiology and Genetics of Venous Thromboembolism and Chronic Venous Disease.

Authors:  Richard A Baylis; Nicholas L Smith; Derek Klarin; Eri Fukaya
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6.  Skeletal muscle myosin and cardiac myosin attenuate heparin's antithrombin-dependent anticoagulant activity.

Authors:  Shravan Morla; Hiroshi Deguchi; John H Griffin
Journal:  J Thromb Haemost       Date:  2020-12-10       Impact factor: 5.824
  6 in total

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