Evidence map›Paper›PMID 22703881›Full record

SynthesisAmerican journal of human genetics2012

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

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 and 25 more

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
66citing papers in PubMed, 6 pooled it
4.8field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

66 citing papers in PubMed, 6 syntheses or guidelines pooled it, 105 citations in OpenAlex.

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6 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

35 authors at 20 institutions in 6 countries.

Weihong TangDivision of Epidemiology and Community Health, University of Minnesota, Minneapolis, 55454, USA. tang0097@umn.edu
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
University of Edinburgh · GBUniversity of Minnesota · USUniversity of Lübeck · DEEurac Research · ITMerck & Co., Inc., Rahway, NJ, USA (United States) · USSorbonne Université · FRThe University of Texas Health Science Center at Houston · USUniversity of Glasgow · GBAix-Marseille Université · FRAlzheimer Scotland · GBCardiff University · GBFramingham Heart Study · USNational Heart Lung and Blood Institute · USNational Institute for Health Research · GBOspedale di Bolzano · ITQIMR Berghofer Medical Research Institute · AUQueen's University Belfast · GBRoslin Institute · GBUniversity of Bristol · GBUniversity of Vermont · US

Funding

Framingham Project/LevyZIAHL006001 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI LEVY, DANIEL · 2009 to 2025
$51.1M
Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Genetic Epidemiological Study of Venous Thromboembolism and Hemostatic FactorsR01HL095603 · NHLBI · UNIVERSITY OF MINNESOTA · PI TANG, WEIHONG · 2009 to 2012
$1.2M
Biotechnology and Biological Sciences Research Council BB/F019394/1British Heart Foundation PG/09/002/26056Medical Research Council G0700704NHLBI NIH HHS R01 HL095603NHLBI NIH HHS R01-HL095603NHLBI NIH HHS R01 HL105756
6 · The paper itself

Abstract

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.

Indexed as

Genetic Predisposition to DiseasePartial Thromboplastin TimeProthrombin TimeCohort StudiesFemaleGene Expression ProfilingGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideRiskThromboembolismThrombosis

Identifiers

PMID22703881
PMCPMC3397273
OpenAlexW2023525998

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.