0000000000771754

AUTHOR

Bengt Sennblad

showing 2 related works from this author

Genome- wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels

2017

International audience; Coagulation factor XI (FXI) has become increasingly interesting for its role in pathogenesis of thrombosis. While elevated plasma levels of FXI have been associated with venous thromboembolism and ischemic stroke, its deficiency is associated with mild bleeding. We aimed to determine novel genetic and post-transcriptional plasma FXI regulators.We performed a genome-wide association study (GWAS) for plasma FXI levels, using novel data imputed to the 1000 Genomes reference panel. Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analysed and further replicated in 2,045 individuals from…

Male0301 basic medicineIn silicoReceptors Cell SurfaceSingle-nucleotide polymorphismGenome-wide association study030204 cardiovascular system & hematologyBiologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicine[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]GeneticsmedicineHumansComputer SimulationGene Regulatory NetworksGenetic Predisposition to Disease1000 Genomes ProjectMolecular BiologyGeneGenetics (clinical)Adaptor Proteins Signal TransducingGeneticsmedicine.diagnostic_testKininogensAssociation Studies ArticlesHaplotypeThrombosisGeneral Medicine3. Good health030104 developmental biologyGene Expression RegulationFemalePartial Thromboplastin TimeCell Adhesion MoleculesProtein Processing Post-TranslationalImputation (genetics)Genome-Wide Association StudyPartial thromboplastin time
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A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

2015

Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including similar to 120 000 participants of European ancestry (95 806 participants with data on the X-chromosome). Approximately 10.7 million single-nucleotide polymorphisms and 1.2 million indels were examined. We identified 41 genome-wide significant fibrinogen loci ; of which, 18 …

AdultMale0301 basic medicineNetherlands Twin Register (NTR)Single-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single NucleotideWhite People03 medical and health sciencesINDEL MutationGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Humans1000 Genomes ProjectInternational HapMap ProjectIndelMolecular BiologyGenetics (clinical)ComputingMilieux_MISCELLANEOUSAgedGenetic associationAged 80 and overGeneticsAssociation Studies ArticlesFibrinogen[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyGeneral MedicineMiddle AgedGenetic architecture030104 developmental biologyGenetic LociFemaleGENOME-WIDE ASSOCIATION ; C-REACTIVE PROTEIN ; CARDIOVASCULAR-DISEASE ; CIRCULATING FIBRINOGEN ; GENETIC ARCHITECTURE ; VARIANTS ; DESIGN ; HEMOSTASIS ; RESOURCE ; HEALTHImputation (genetics)Genome-Wide Association Study
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