Journal
PLOS ONE
Volume 7, Issue 6, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0038538
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Funding
- Agence Nationale pour la Recherche [ANR-07-MRAR-021]
- Program Hospitalier de recherche Clinique (PHRC2009 RENOVA-TV)
- Fondation pour la Recherche Medicale
- Program Hospitalier de Recherche Clinique
- Program Hospitalier de recherche Clinique [20002]
- Fondation de France
- Leducq Foundation
- Caisse Nationale Maladie des Travailleurs Salaries, Direction Generale de la Sante, Mutuelle Generale de l'Education Nationale
- Institut de la Longevite, Agence Francaise de Securite Sanitaire des Produits de Sante
- Regional Governments of Aquitaine, Bourgogne and Languedoc-Roussillon
- Ministry of Research-Inserm Programme 'Cohorts and collection of biological material
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By applying an imputation strategy based on the 1000 Genomes project to two genome-wide association studies (GWAS), we detected a susceptibility locus for venous thrombosis on chromosome 11p11.2 that was missed by previous GWAS analyses that had been conducted on the same datasets. A comprehensive linkage disequilibrium and haplotype analysis of the whole locus where twelve SNPs exhibited association p-values lower than 2.23 10(-11) and the use of independent case-control samples demonstrated that the culprit variant was a rare variant located similar to 1 Mb away from the original hits, not tagged by current genome-wide genotyping arrays and even not well imputed in the original GWAS samples. This variant was in fact the rs1799963, also known as the FII G20210A prothrombin mutation. This work may be of major interest not only for its scientific impact but also for its methodological findings.
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