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

Lorna M. Houlihan; 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

doi:10.1016/j.ajhg.2010.02.016

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

Lorna M. Houlihan^*, 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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Abstract

Activated partial thromboplastin time (aPTF) 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 similar to 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.

Original language	English
Pages (from-to)	626-631
Number of pages	6
Journal	American Journal of Human Genetics
Volume	86
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2010.02.016
Publication status	Published - 9 Apr 2010

Keywords

GENE
RISK-FACTORS
HEMOSTASIS PHENOTYPES
PROTEIN
KININOGEN
PLASMA
WHOLE-GENOME ASSOCIATION
POPULATION
DEEP-VEIN THROMBOSIS
FACTOR-XI DEFICIENCY

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Houlihan, L. M., Davies, G., Tenesa, A., Harris, S. E., Luciano, M., Gow, A. J., McGhee, K. A., Liewald, D. C., Porteous, D. J., Starr, J. M., Lowe, G. D., Visscher, P. M., & Deary, I. J. (2010). Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time. American Journal of Human Genetics, 86(4), 626-631. https://doi.org/10.1016/j.ajhg.2010.02.016

@article{5ed9ad3f028f459ba3015b8023fe7e9d,

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

abstract = "Activated partial thromboplastin time (aPTF) 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 similar to 18\% of phenotypic variance in aPTT in the Lothian Birth Cohorts.",

keywords = "GENE, RISK-FACTORS, HEMOSTASIS PHENOTYPES, PROTEIN, KININOGEN, PLASMA, WHOLE-GENOME ASSOCIATION, POPULATION, DEEP-VEIN THROMBOSIS, FACTOR-XI DEFICIENCY",

author = "Houlihan, \{Lorna M.\} and Gail Davies and Albert Tenesa and Harris, \{Sarah E.\} and Michelle Luciano and Gow, \{Alan J.\} and McGhee, \{Kevin A.\} and Liewald, \{David C.\} and Porteous, \{David J.\} and Starr, \{John M.\} and Lowe, \{Gordon D.\} and Visscher, \{Peter M.\} and Deary, \{Ian J.\}",

year = "2010",

month = apr,

day = "9",

doi = "10.1016/j.ajhg.2010.02.016",

language = "English",

volume = "86",

pages = "626--631",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

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Houlihan, LM, Davies, G, Tenesa, A, Harris, SE, Luciano, M, Gow, AJ, McGhee, KA, Liewald, DC, Porteous, DJ, Starr, JM, Lowe, GD, Visscher, PM & Deary, IJ 2010, 'Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time', American Journal of Human Genetics, vol. 86, no. 4, pp. 626-631. https://doi.org/10.1016/j.ajhg.2010.02.016

TY - JOUR

T1 - Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time

AU - Houlihan, Lorna M.

AU - Davies, Gail

AU - Tenesa, Albert

AU - Harris, Sarah E.

AU - Luciano, Michelle

AU - Gow, Alan J.

AU - McGhee, Kevin A.

AU - Liewald, David C.

AU - Porteous, David J.

AU - Starr, John M.

AU - Lowe, Gordon D.

AU - Visscher, Peter M.

AU - Deary, Ian J.

PY - 2010/4/9

Y1 - 2010/4/9

N2 - Activated partial thromboplastin time (aPTF) 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 similar to 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.

AB - Activated partial thromboplastin time (aPTF) 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 similar to 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.

KW - GENE

KW - RISK-FACTORS

KW - HEMOSTASIS PHENOTYPES

KW - PROTEIN

KW - KININOGEN

KW - PLASMA

KW - WHOLE-GENOME ASSOCIATION

KW - POPULATION

KW - DEEP-VEIN THROMBOSIS

KW - FACTOR-XI DEFICIENCY

UR - https://www.scopus.com/pages/publications/77950334578

U2 - 10.1016/j.ajhg.2010.02.016

DO - 10.1016/j.ajhg.2010.02.016

M3 - Article

C2 - 20303064

SN - 0002-9297

VL - 86

SP - 626

EP - 631

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -

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

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