Literature DB >> 20303064

Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

Lorna M Houlihan1, Gail Davies, Albert Tenesa, Sarah E Harris, Michelle Luciano, Alan J Gow, Kevin A McGhee, David C Liewald, David J Porteous, John M Starr, Gordon D Lowe, Peter M Visscher, Ian J Deary.   

Abstract

Activated partial thromboplastin time (aPTT) is associated with risk of thrombosis and coagulation disorders. We conducted a genome-wide association study for aPTT and identified significant associations with SNPs in three coagulation cascade genes, F12 (rs2731672, combined p = 2.16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)). These three SNPs explain approximately 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts. (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2010        PMID： 20303064      PMCID： PMC2850435          DOI： 10.1016/j.ajhg.2010.02.016

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  23 in total

1.  Mortality from coronary heart disease and acute myocardial infarction--United States, 1998.

Authors: 
Journal:  MMWR Morb Mortal Wkly Rep       Date:  2001-02-16       Impact factor: 17.586

2.  Prediction of deep vein thrombosis after elective hip replacement surgery by preoperative clinical and haemostatic variables: the ECAT DVT Study. European Concerted Action on Thrombosis.

Authors:  G D Lowe; F Haverkate; S G Thompson; R M Turner; R M Bertina; A G Turpie; P M Mannucci
Journal:  Thromb Haemost       Date:  1999-06       Impact factor: 5.249

3.  The impact of childhood intelligence on later life: following up the Scottish mental surveys of 1932 and 1947.

Authors:  Ian J Deary; Martha C Whiteman; John M Starr; Lawrence J Whalley; Helen C Fox
Journal:  J Pers Soc Psychol       Date:  2004-01

4.  Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

Authors:  Francesc Calafell; Laura Almasy; Maria Sabater-Lleal; Alfonso Buil; Carolina Mordillo; Anna Ramírez-Soriano; Martin Sikora; Juan Carlos Souto; John Blangero; Jordi Fontcuberta; José Manuel Soria
Journal:  Hum Mol Genet       Date:  2009-11-23       Impact factor: 6.150

5.  Heterozygous factor XI deficiency associated with three novel mutations.

Authors:  M Mitchell; J Cutler; S Thompson; G Moore; E Jenkins Ap Rees; M Smith; G Savidge; A Alhaq
Journal:  Br J Haematol       Date:  1999-12       Impact factor: 6.998

6.  Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia.

Authors:  J C Souto; L Almasy; M Borrell; F Blanco-Vaca; J Mateo; J M Soria; I Coll; R Felices; W Stone; J Fontcuberta; J Blangero
Journal:  Am J Hum Genet       Date:  2000-10-19       Impact factor: 11.025

7.  Human non-synonymous SNPs: server and survey.

Authors:  Vasily Ramensky; Peer Bork; Shamil Sunyaev
Journal:  Nucleic Acids Res       Date:  2002-09-01       Impact factor: 16.971

8.  Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis.

Authors:  Isabel Tirado; José Manuel Soria; José Mateo; Artur Oliver; Juan Carlos Souto; Amparo Santamaria; Rosa Felices; Montserrat Borrell; Jordi Fontcuberta
Journal:  Thromb Haemost       Date:  2004-05       Impact factor: 5.249

9.  Homozygosity of the T allele of the 46 C->T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population.

Authors:  Amparo Santamaría; José Mateo; Isabel Tirado; Arturo Oliver; Roberto Belvís; Joan Martí-Fábregas; Rosa Felices; José Manuel Soria; Juan Carlos Souto; Jordi Fontcuberta
Journal:  Stroke       Date:  2004-07-01       Impact factor: 7.914

10.  Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.

Authors:  F Quélin; M Trossaërt; M Sigaud; P D E Mazancourt; E Fressinaud
Journal:  J Thromb Haemost       Date:  2004-01       Impact factor: 5.824
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  39 in total

1.  Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

Authors:  Weihong Tang; Christine Schwienbacher; Lorna M Lopez; Yoav Ben-Shlomo; Tiphaine Oudot-Mellakh; Andrew D Johnson; Nilesh J Samani; Saonli Basu; Martin Gögele; Gail Davies; Gordon D O Lowe; David-Alexandre Tregouet; Adrian Tan; James S Pankow; Albert Tenesa; Daniel Levy; Claudia B Volpato; Ann Rumley; Alan J Gow; Cosetta Minelli; John W G Yarnell; David J Porteous; John M Starr; John Gallacher; Eric Boerwinkle; Peter M Visscher; Peter P Pramstaller; Mary Cushman; Valur Emilsson; Andrew S Plump; Nena Matijevic; Pierre-Emmanuel Morange; Ian J Deary; Andrew A Hicks; Aaron R Folsom
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

2.  Joint Effects of GWAS SNPs in Coagulation System Confer Risk to Hypertensive Intracerebral Hemorrhage.

Authors:  Yanyan Cao; Min Tian; Qin Fang; Zheng Wen; Wei Wang; Hu Ding; Dao Wen Wang
Journal:  Neuromolecular Med       Date:  2017-07-17       Impact factor: 3.843

3.  Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.

Authors:  Ying Wu; Yun Li; Ethan M Lange; Damien C Croteau-Chonka; Christopher W Kuzawa; Thomas W McDade; Li Qin; Ghenadie Curocichin; Judith B Borja; Leslie A Lange; Linda S Adair; Karen L Mohlke
Journal:  Hum Mol Genet       Date:  2010-09-27       Impact factor: 6.150

4.  The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants.

Authors:  Ari Allyn-Feuer; Alex Ade; Jasmine A Luzum; Gerald A Higgins; Brian D Athey
Journal:  Pharmacogenomics       Date:  2018-02-05       Impact factor: 2.533

5.  Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Authors:  Eun-Ju Lee; Daniel J Dykas; Andrew D Leavitt; Rodney M Camire; Eduard Ebberink; Pablo García de Frutos; Kavitha Gnanasambandan; Sean X Gu; James A Huntington; Steven R Lentz; Koen Mertens; Christopher R Parish; Alireza R Rezaie; Peter P Sayeski; Caroline Cromwell; Noffar Bar; Stephanie Halene; Natalia Neparidze; Terri L Parker; Adrienne J Burns; Anne Dumont; Xiaopan Yao; Cassius Iyad Ochoa Chaar; Jean M Connors; Allen E Bale; Alfred Ian Lee
Journal:  Blood Adv       Date:  2017-06-29

6.  A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.

Authors:  Lu-Chen Weng; Mary Cushman; James S Pankow; Saonli Basu; Eric Boerwinkle; Aaron R Folsom; Weihong Tang
Journal:  Hum Mol Genet       Date:  2014-12-30       Impact factor: 6.150

7.  Plasma Concentrations of High Molecular Weight Kininogen and Prekallikrein and Venous Thromboembolism Incidence in the General Population.

Authors:  Aaron R Folsom; Weihong Tang; Saonli Basu; Jeffrey R Misialek; David Couper; Susan R Heckbert; Mary Cushman
Journal:  Thromb Haemost       Date:  2019-02-19       Impact factor: 5.249

8.  Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study.

Authors:  N C Olson; S Butenas; L A Lange; E M Lange; M Cushman; N S Jenny; J Walston; J C Souto; J M Soria; G Chauhan; S Debette; W T Longstreth; S Seshadri; A P Reiner; R P Tracy
Journal:  J Thromb Haemost       Date:  2015-09-14       Impact factor: 5.824

Review 9.  Dissecting the genetic determinants of hemostasis and thrombosis.

Authors:  Karl C Desch
Journal:  Curr Opin Hematol       Date:  2015-09       Impact factor: 3.284

10.  Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts.

Authors:  Lorna M Lopez; Sarah E Harris; Michelle Luciano; Dave Liewald; Gail Davies; Alan J Gow; Albert Tenesa; Antony Payton; Xiayi Ke; Lawrence J Whalley; Helen Fox; Paul Haggerty; William Ollier; Andrew Pickles; David J Porteous; Michael A Horan; Neil Pendleton; John M Starr; Ian J Deary
Journal:  Eur J Hum Genet       Date:  2011-11-02       Impact factor: 4.246
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