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Approche méthodologique et expérimentale des études d'associations pangénomiques des facteurs de risque des pathologies cardiovasculaires

Abstract : Complex synergies of multiple risk factors are at the origin of cardiovascular pathologies. Their genetic etiology has been extensively investigated but many questions remain on the identification of functional variants explaining the large genetic heritability of cardiovascular risk factors and gene-gene-environment interactions hiding or modulating genetics underpinning cardiovascular physiopathology. Herein we describe our study of the genetics of cardiovascular risk factors: lipids, blood pressure, haptoglobin and vascular endothelial growth factor. We performed Genome-Wide Scan Association Studies (GWAS) on a subsample of 631 unrelated children selected in the STANISLAS cohort and replicated our results in 9,000 children from four pediatric cohorts and 13,300 adults from three different cohorts. We demonstrated that genetic associations highlighted in adults were observable in childhood and addressed the tools missing in bioinformatics, biostatistics and methodologies used in GWAS approaches, notably concerning trasncriptomic validations. In summary, during our thesis, we followed an epidemiologic approach and proposed integrated designs in order to upgrade the investigations on genetic epidemiology of cardiovascular diseases
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https://hal.univ-lorraine.fr/tel-01746397
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Ndeye Coumba Ndiaye. Approche méthodologique et expérimentale des études d'associations pangénomiques des facteurs de risque des pathologies cardiovasculaires. Médecine humaine et pathologie. Université Henri Poincaré - Nancy 1, 2010. Français. ⟨NNT : 2010NAN10134⟩. ⟨tel-01746397⟩

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