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Master Thesis

Méthodologie statistique pour étudier l'empreinte parentale dans le cadre des études d'association pan-génomique -Etude de l'association entre le gène ABO et le facteur de Willebrand dans la maladie thromboembolique veineuse

Abstract : The Venous ThromboEmbolism (VTE) is the 3rd most frequent vascular disease in Europe and is responsible of around 10 000 deaths per year in France. It results from blood clot forms (thrombus) which can obstruct blood circulation. Last genome wide association studies identified a thirties genes associated with this disease, including ABO gene which determines blood group. Genome wide association studies permit to identify genetics polymorphisms involved in quantitative or qualitative traits variances but is based on the assumption of parental origin effect absence. However some works have shown parental origin of the allele can increase thrombos disease risk depending if the allele is herited from the father or the mother. Thus, in this research intership, using a new methodology based on Brown-Forsythe test applied on 2 643 individuals, A1 group has been revealed potentially prone to parental imprinting on the von Willebrand factor (vWF). This hypothese is confirmed on a family data where vWF was significantly lower when a child has herited A1 allele from his father rather than his mother ; which can show that this parental origin effect is potentially paternal.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03377718
Contributor : Isped Ub - Connect in order to contact the contributor
Submitted on : Thursday, October 14, 2021 - 11:48:35 AM
Last modification on : Friday, October 15, 2021 - 5:44:33 PM

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  • HAL Id : dumas-03377718, version 1

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Blandine Gendre. Méthodologie statistique pour étudier l'empreinte parentale dans le cadre des études d'association pan-génomique -Etude de l'association entre le gène ABO et le facteur de Willebrand dans la maladie thromboembolique veineuse. Santé publique et épidémiologie. 2021. ⟨dumas-03377718⟩

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