6533b828fe1ef96bd1288374
RESEARCH PRODUCT
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.
Marie-christine AlessiMark LathropSimon HeathDiana ZelenikaJessy BrochetonJean-françois SchvedMarine GermainPilar GalanEwa NinioStefan BlankenbergThomas MünzelJoseph EmmerichIrene D. BezemerChristine Biron-andreaniFrançois CambienAurélien DellucNoémie SautTanja ZellerDavid-alexandre TrégouëtLudovic DrouetFrits R. RosendaalLaurence TiretPierre-emmanuel MorangeViviane NicaudHervé DurandStefan-martin Brand-herrmannGwenaelle BurgosLance A. BareGilles Pernodsubject
MESH : Transcription Factors[SDV]Life Sciences [q-bio]Genome-wide association study030204 cardiovascular system & hematologyMESH : Chromosomes Human Pair 60302 clinical medicineGenetics(clinical)Genetics (clinical)GeneticsVenous Thrombosis0303 health sciencesMESH: Polymorphism Single NucleotideMESH : Polymorphism Single NucleotideMESH: Genetic Predisposition to DiseaseMESH: Follow-Up StudiesMESH: Transcription FactorsMESH : Venous ThrombosisMESH: Case-Control StudiesDNA-Binding ProteinsChromosomes Human Pair 6MESH : DNA-Binding ProteinsErratumMESH : Genome-Wide Association StudyMESH : Case-Control StudiesMESH: Chromosomes Human Pair 6Locus (genetics)BiologyPolymorphism Single NucleotideGenetic determinism03 medical and health sciencesReportGenetic predispositionGeneticsHumansGenetic Predisposition to DiseaseAlleleGene030304 developmental biologyMESH: Humans[ SDV ] Life Sciences [q-bio]MESH : Humanslinking inflammation protein atherothrombosis sequence riskCase-control studyChromosomeMESH : Follow-Up StudiesCase-Control StudiesMESH: Genome-Wide Association StudyMESH: Venous ThrombosisMESH : Genetic Predisposition to Disease030217 neurology & neurosurgeryMESH: DNA-Binding ProteinsFollow-Up StudiesGenome-Wide Association StudyTranscription Factorsdescription
International audience; To identify genetic susceptibility factors conferring increased risk of venous thrombosis (VT), we conducted a multistage study, following results of a previously published GWAS that failed to detect loci for developing VT. Using a collection of 5862 cases with VT and 7112 healthy controls, we identified the HIVEP1 locus on chromosome 6p24.1 as a susceptibility locus for VT. Indeed, the HIVEP1 rs169713C allele was associated with an increased risk for VT, with an odds ratio of 1.20 (95% confidence interval 1.13-1.27, p = 2.86 x 10(-9)). HIVEP1 codes for a protein that participates in the transcriptional regulation of inflammatory target genes by binding specific DNA sequences in their promoter and enhancer regions. The current results provide the identification of a locus involved in VT susceptibility that lies outside the traditional coagulation/fibrinolysis pathway.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2010-04-09 |