Evidence map›Paper›PMID 11038326›Full record

ArticleAmerican journal of human genetics2000

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

J C Souto, L Almasy, M Borrell, F Blanco-Vaca, J Mateo, J M Soria, I Coll, R Felices, W Stone, J Fontcuberta and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
113citing papers in PubMed, 7 pooled it
3.0field-weighted citation impact, top 8% 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

113 citing papers in PubMed, 7 syntheses or guidelines pooled it, 342 citations in OpenAlex.

  1. Genome-Wide Search for Nonadditive Allele Effects IdentifiesJournal of the American Heart Association · 2024
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  16. Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study.Pathophysiology : the official journal of the International Society for Pathophysiology · 2024
    Article
  17. Increased Platelet Adhesiveness in Patients with Venous Thromboembolic Disease.TH open : companion journal to thrombosis and haemostasis · 2024
    Article
  18. Serum albumin, genetic susceptibility, and risk of venous thromboembolism.Research and practice in thrombosis and haemostasis · 2024
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  19. Review
  20. Article

53 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

11 authors at 3 institutions in 2 countries.

J C SoutoUnitat de Trombosi i Hemostasia, Departament d'Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
L Almasy
M Borrell
F Blanco-Vaca
J Mateo
J M Soria
I Coll
R Felices
W Stone
J Fontcuberta
J Blangero
Texas Biomedical Research Institute · USHospital de Sant Pau · ESTrinity University · US

Funding

Quantitative Trait Locus Mapping in Human PedigreesR37MH059490 · NIMH · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 2001 to 2010
$6.8M
QUANTITATIVE TRAIT LOCUS MAPPING IN HUMAN PEDIGREESR01MH059490 · NIMH · SOUTHWEST FOUNDATION FOR BIOMEDICAL RES · PI BLANGERO, JOHN · 1998 to 2000
$426k
NIMH NIH HHS MH59490NIMH NIH HHS R01 MH059490NIMH NIH HHS R37 MH059490
6 · The paper itself

Abstract

Although there are a number of well-characterized genetic defects that lead to increased risk of thrombosis, little information is available on the relative importance of genetic factors in thrombosis risk in the general population. We performed a family-based study of the genetics of thrombosis in the Spanish population to assess the heritability of thrombosis and to identify the joint actions of genes on thrombosis risk and related quantitative hemostasis phenotypes. We examined 398 individuals in 21 extended pedigrees. Twelve pedigrees were ascertained through a proband with idiopathic thrombosis, and the remaining pedigrees were randomly ascertained. The heritability of thrombosis liability and the genetic correlations between thrombosis and each of the quantitative risk factors were estimated by means of a novel variance component method that used a multivariate threshold model. More than 60% of the variation in susceptibility to common thrombosis is attributable to genetic factors. Several quantitative risk factors exhibited significant genetic correlations with thrombosis, indicating that some of the genes that influence quantitative variation in these physiological correlates also influence the risk of thrombosis. Traits that exhibited significant genetic correlations with thrombosis included levels of several coagulation factors (factors VII, VIII, IX, XI, XII, and von Willebrand), tissue plasminogen activator, homocysteine, and the activated protein C ratio. This is the first study that quantifies the genetic component of susceptibility to common thrombosis. The high heritability of thrombosis risk and the significant genetic correlations between thrombosis and related risk factors suggest that the exploitation of correlated quantitative phenotypes will aid the search for susceptibility genes.

Indexed as

AdolescentAdultAgedAge of OnsetChildEnvironmentFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPartial Thromboplastin TimeProthrombin TimeQuantitative Trait, HeritableRisk FactorsSpain

Identifiers

PMID11038326
PMCPMC1287922
OpenAlexW2079944343

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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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.