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Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease

Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-an... Full description

Journal Title: American journal of human genetics 2012-07-13, Vol.91 (1), p.152-162
Main Author: Tang, Weihong
Other Authors: Schwienbacher, Christine , Lopez, Lorna M , Ben-Shlomo, Yoav , Oudot-Mellakh, Tiphaine , Johnson, Andrew D , Samani, Nilesh J , Basu, Saonli , Gögele, Martin , Davies, Gail , Lowe, Gordon D.O , Tregouet, David-Alexandre , Tan, Adrian , Pankow, James S , Tenesa, Albert , Levy, Daniel , Volpato, Claudia B , Rumley, Ann , Gow, Alan J , Minelli, Cosetta , Yarnell, John W.G , Porteous, David J , Starr, John M , Gallacher, John , Boerwinkle, Eric , Visscher, Peter M , Pramstaller, Peter P , Cushman, Mary , Emilsson, Valur , Plump, Andrew S , Matijevic, Nena , Morange, Pierre-Emmanuel , Deary, Ian J , Hicks, Andrew A , Folsom, Aaron R
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Cambridge, MA: Elsevier Inc
ID: ISSN: 0002-9297
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3397273
title: Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
format: Article
creator:
  • Tang, Weihong
  • Schwienbacher, Christine
  • Lopez, Lorna M
  • Ben-Shlomo, Yoav
  • Oudot-Mellakh, Tiphaine
  • Johnson, Andrew D
  • Samani, Nilesh J
  • Basu, Saonli
  • Gögele, Martin
  • Davies, Gail
  • Lowe, Gordon D.O
  • Tregouet, David-Alexandre
  • Tan, Adrian
  • Pankow, James S
  • Tenesa, Albert
  • Levy, Daniel
  • Volpato, Claudia B
  • Rumley, Ann
  • Gow, Alan J
  • Minelli, Cosetta
  • Yarnell, John W.G
  • Porteous, David J
  • Starr, John M
  • Gallacher, John
  • Boerwinkle, Eric
  • Visscher, Peter M
  • Pramstaller, Peter P
  • Cushman, Mary
  • Emilsson, Valur
  • Plump, Andrew S
  • Matijevic, Nena
  • Morange, Pierre-Emmanuel
  • Deary, Ian J
  • Hicks, Andrew A
  • Folsom, Aaron R
subjects:
  • asjc
  • Atherosclerosis
  • atira
  • Biological and medical sciences
  • Blood
  • Cardiology. Vascular system
  • Cardiovascular disease
  • Causes of
  • circulatory
  • Cohort Studies
  • Coronary heart disease
  • Female
  • Fundamental and applied biological sciences. Psychology
  • Gene expression
  • Gene Expression Profiling
  • Gene loci
  • Genealogy
  • Genetic aspects
  • Genetic Predisposition to Disease
  • Genetic research
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genetics(clinical)
  • Genome-Wide Association Study
  • Genomics
  • Health aspects
  • Heart
  • Humans
  • Male
  • Measurement
  • Medical examination
  • Medical genetics
  • Medical sciences
  • Meta-analysis
  • Middle Aged
  • Molecular and cellular biology
  • Partial Thromboplastin Time
  • Polymorphism, Single Nucleotide
  • Prothrombin
  • Prothrombin Time
  • pure
  • Report
  • respiratory physiology
  • Risk
  • Risk factors
  • subjectarea
  • Thrombin
  • Thromboembolism - genetics
  • Thromboplastin
  • Thrombosis - genetics
ispartof: American journal of human genetics, 2012-07-13, Vol.91 (1), p.152-162
description: Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with KNG1, HRG, F11, F12, and ABO were confirmed. A second independent association in ABO was identified and replicated (rs8176704, p = 4.26 × 10−24). Pooling the ARIC and replication data yielded two additional loci in F5 (rs6028, p = 3.22 × 10−9) and AGBL1 (rs2469184, p = 3.61 × 10−8). For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10−56) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10−13). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleGenetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
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creatorTang, Weihong ; Schwienbacher, Christine ; Lopez, Lorna M ; Ben-Shlomo, Yoav ; Oudot-Mellakh, Tiphaine ; Johnson, Andrew D ; Samani, Nilesh J ; Basu, Saonli ; Gögele, Martin ; Davies, Gail ; Lowe, Gordon D.O ; Tregouet, David-Alexandre ; Tan, Adrian ; Pankow, James S ; Tenesa, Albert ; Levy, Daniel ; Volpato, Claudia B ; Rumley, Ann ; Gow, Alan J ; Minelli, Cosetta ; Yarnell, John W.G ; Porteous, David J ; Starr, John M ; Gallacher, John ; Boerwinkle, Eric ; Visscher, Peter M ; Pramstaller, Peter P ; Cushman, Mary ; Emilsson, Valur ; Plump, Andrew S ; Matijevic, Nena ; Morange, Pierre-Emmanuel ; Deary, Ian J ; Hicks, Andrew A ; Folsom, Aaron R
creatorcontribTang, Weihong ; Schwienbacher, Christine ; Lopez, Lorna M ; Ben-Shlomo, Yoav ; Oudot-Mellakh, Tiphaine ; Johnson, Andrew D ; Samani, Nilesh J ; Basu, Saonli ; Gögele, Martin ; Davies, Gail ; Lowe, Gordon D.O ; Tregouet, David-Alexandre ; Tan, Adrian ; Pankow, James S ; Tenesa, Albert ; Levy, Daniel ; Volpato, Claudia B ; Rumley, Ann ; Gow, Alan J ; Minelli, Cosetta ; Yarnell, John W.G ; Porteous, David J ; Starr, John M ; Gallacher, John ; Boerwinkle, Eric ; Visscher, Peter M ; Pramstaller, Peter P ; Cushman, Mary ; Emilsson, Valur ; Plump, Andrew S ; Matijevic, Nena ; Morange, Pierre-Emmanuel ; Deary, Ian J ; Hicks, Andrew A ; Folsom, Aaron R
descriptionActivated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with KNG1, HRG, F11, F12, and ABO were confirmed. A second independent association in ABO was identified and replicated (rs8176704, p = 4.26 × 10−24). Pooling the ARIC and replication data yielded two additional loci in F5 (rs6028, p = 3.22 × 10−9) and AGBL1 (rs2469184, p = 3.61 × 10−8). For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10−56) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10−13). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data.
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0ISSN: 0002-9297
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languageeng
publisherCambridge, MA: Elsevier Inc
subjectasjc ; Atherosclerosis ; atira ; Biological and medical sciences ; Blood ; Cardiology. Vascular system ; Cardiovascular disease ; Causes of ; circulatory ; Cohort Studies ; Coronary heart disease ; Female ; Fundamental and applied biological sciences. Psychology ; Gene expression ; Gene Expression Profiling ; Gene loci ; Genealogy ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic research ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics(clinical) ; Genome-Wide Association Study ; Genomics ; Health aspects ; Heart ; Humans ; Male ; Measurement ; Medical examination ; Medical genetics ; Medical sciences ; Meta-analysis ; Middle Aged ; Molecular and cellular biology ; Partial Thromboplastin Time ; Polymorphism, Single Nucleotide ; Prothrombin ; Prothrombin Time ; pure ; Report ; respiratory physiology ; Risk ; Risk factors ; subjectarea ; Thrombin ; Thromboembolism - genetics ; Thromboplastin ; Thrombosis - genetics
ispartofAmerican journal of human genetics, 2012-07-13, Vol.91 (1), p.152-162
rights
02012 The American Society of Human Genetics
12015 INIST-CNRS
2Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
3COPYRIGHT 2012 Elsevier B.V.
4Copyright Cell Press Jul 13, 2012
52012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics
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0Tang, Weihong
1Schwienbacher, Christine
2Lopez, Lorna M
3Ben-Shlomo, Yoav
4Oudot-Mellakh, Tiphaine
5Johnson, Andrew D
6Samani, Nilesh J
7Basu, Saonli
8Gögele, Martin
9Davies, Gail
10Lowe, Gordon D.O
11Tregouet, David-Alexandre
12Tan, Adrian
13Pankow, James S
14Tenesa, Albert
15Levy, Daniel
16Volpato, Claudia B
17Rumley, Ann
18Gow, Alan J
19Minelli, Cosetta
20Yarnell, John W.G
21Porteous, David J
22Starr, John M
23Gallacher, John
24Boerwinkle, Eric
25Visscher, Peter M
26Pramstaller, Peter P
27Cushman, Mary
28Emilsson, Valur
29Plump, Andrew S
30Matijevic, Nena
31Morange, Pierre-Emmanuel
32Deary, Ian J
33Hicks, Andrew A
34Folsom, Aaron R
title
0Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
1American journal of human genetics
addtitleAm J Hum Genet
descriptionActivated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with KNG1, HRG, F11, F12, and ABO were confirmed. A second independent association in ABO was identified and replicated (rs8176704, p = 4.26 × 10−24). Pooling the ARIC and replication data yielded two additional loci in F5 (rs6028, p = 3.22 × 10−9) and AGBL1 (rs2469184, p = 3.61 × 10−8). For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10−56) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10−13). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data.
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1Atherosclerosis
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4Blood
5Cardiology. Vascular system
6Cardiovascular disease
7Causes of
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9Cohort Studies
10Coronary heart disease
11Female
12Fundamental and applied biological sciences. Psychology
13Gene expression
14Gene Expression Profiling
15Gene loci
16Genealogy
17Genetic aspects
18Genetic Predisposition to Disease
19Genetic research
20Genetics
21Genetics of eukaryotes. Biological and molecular evolution
22Genetics(clinical)
23Genome-Wide Association Study
24Genomics
25Health aspects
26Heart
27Humans
28Male
29Measurement
30Medical examination
31Medical genetics
32Medical sciences
33Meta-analysis
34Middle Aged
35Molecular and cellular biology
36Partial Thromboplastin Time
37Polymorphism, Single Nucleotide
38Prothrombin
39Prothrombin Time
40pure
41Report
42respiratory physiology
43Risk
44Risk factors
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47Thromboembolism - genetics
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49Thrombosis - genetics
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1Schwienbacher, Christine
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3Ben-Shlomo, Yoav
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5Johnson, Andrew D
6Samani, Nilesh J
7Basu, Saonli
8Gögele, Martin
9Davies, Gail
10Lowe, Gordon D.O
11Tregouet, David-Alexandre
12Tan, Adrian
13Pankow, James S
14Tenesa, Albert
15Levy, Daniel
16Volpato, Claudia B
17Rumley, Ann
18Gow, Alan J
19Minelli, Cosetta
20Yarnell, John W.G
21Porteous, David J
22Starr, John M
23Gallacher, John
24Boerwinkle, Eric
25Visscher, Peter M
26Pramstaller, Peter P
27Cushman, Mary
28Emilsson, Valur
29Plump, Andrew S
30Matijevic, Nena
31Morange, Pierre-Emmanuel
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titleGenetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
authorTang, Weihong ; Schwienbacher, Christine ; Lopez, Lorna M ; Ben-Shlomo, Yoav ; Oudot-Mellakh, Tiphaine ; Johnson, Andrew D ; Samani, Nilesh J ; Basu, Saonli ; Gögele, Martin ; Davies, Gail ; Lowe, Gordon D.O ; Tregouet, David-Alexandre ; Tan, Adrian ; Pankow, James S ; Tenesa, Albert ; Levy, Daniel ; Volpato, Claudia B ; Rumley, Ann ; Gow, Alan J ; Minelli, Cosetta ; Yarnell, John W.G ; Porteous, David J ; Starr, John M ; Gallacher, John ; Boerwinkle, Eric ; Visscher, Peter M ; Pramstaller, Peter P ; Cushman, Mary ; Emilsson, Valur ; Plump, Andrew S ; Matijevic, Nena ; Morange, Pierre-Emmanuel ; Deary, Ian J ; Hicks, Andrew A ; Folsom, Aaron R
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6Samani, Nilesh J
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12Tan, Adrian
13Pankow, James S
14Tenesa, Albert
15Levy, Daniel
16Volpato, Claudia B
17Rumley, Ann
18Gow, Alan J
19Minelli, Cosetta
20Yarnell, John W.G
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31Morange, Pierre-Emmanuel
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pages152-162
issn0002-9297
eissn1537-6605
codenAJHGAG
notes
0These authors contributed equally to this work
1On behalf of the CARDIoGRAM Consortium; a full list of CARDIoGRAM members can be found in the Supplemental Data
abstractActivated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with KNG1, HRG, F11, F12, and ABO were confirmed. A second independent association in ABO was identified and replicated (rs8176704, p = 4.26 × 10−24). Pooling the ARIC and replication data yielded two additional loci in F5 (rs6028, p = 3.22 × 10−9) and AGBL1 (rs2469184, p = 3.61 × 10−8). For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10−56) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10−13). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data.
copCambridge, MA
pubElsevier Inc
pmid22703881
doi10.1016/j.ajhg.2012.05.009
oafree_for_read