Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 16 of 16 for “"Mendelian randomisation"”.
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Towards More Accurate Causal Inference with Instrumental Variables and Mendelian Randomisation Analyses
… variables in epidemiological studies is known as Mendelian Randomisation (MR). The conventional modelling assumption for using IVs is to assume a linear structural equation model between the exposure and the outcome. In recent years, there have been various developments in the literature that …
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Clonal haematopoiesis of indeterminate potential and the role of inflammation in its association with atherosclerosis
… models. This in combination with null results in Mendelian randomisation analysis suggests that reverse causation does not underly the relationship between CVD and CHIP. We also find that CHIP does not universally drive augmented atherogenesis in experimental models, uncovering gene-specific …
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Biological and Aetiological Inference from the Statistical Genetic Analyses of Blood Cell Traits
… in aetiology of celiac disease. Furthermore, mendelian randomisation analyses suggest a causal role for blood cell flow cytometry phenotypes in the aetiology of coronary artery disease, lung cancer, and asthma. In addition to my work on flow cytometry traits, I report a major contribution to …
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Καπνιστικές συνήθειες γονέων παιδιών με συγγενείς καρδιοπάθειες στην περιγεννητική περίοδο
… Τέλος, τα αποτελέσματα από αναλύσεις Mendelian randomisation δεν υποστήριξαν ισχυρή αιτιώδη σχέση. Συμπεράσματα: Η παρούσα συστηματική ανασκόπηση υποστηρίζει ότι η έκθεση στον καπνό του τσιγάρου κατά την περιγεννητική περίοδο, και ιδιαίτερα το μητρικό ενεργό και παθητικό κάπνισμα, …
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Genetic determinants of the human plasma proteome and their application in biology and disease
… biomarkers in disease through multivariable Mendelian randomisation (MR) analysis, leveraging on the simultaneous measurement of multiple functionally related proteins in a locus to account for potential pleiotropic effects. Whereas MR studies of plasma proteins have been constrained by …
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Genomics of lipid metabolism: Identification of genetic determinants of lipid metabolites and the effect of perturbations of lipid levels on coronary heart disease risk factors
… of the genetic determinants of human metabolism. Mendelian randomisation was also implemented to examine the causal effect of lipids on risk of CHD. Results: The lipids were highly correlated with each other and with levels of major circulating lipids, and they exhibited significant associations …
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The Genetics of Anti-Neutrophil Cytoplasmic Antibody Associated Vasculitis (AAV)
… colitis and Crohn’s disease. In addition, Mendelian randomisation analysis confirmed that a higher eosinophil count increased the risk of PR3-AAV but not MPO-AAV, and this effect might, in part, be modulated by MIR4435-2HG through prolongation of eosinophil survival. MIR4435-2HG encodes a …
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Investigating the Relationship between Markers of Ageing and Cardiometabolic Disease
… due to confounding and reverse-causality. Mendelian randomisation offers a solution to these limitations and can allow the causal nature of these relationships to be investigated. Using population-based data including UK Biobank, this thesis presents the first large-scale genetic discovery …
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Understanding the genetics and function of complex human retinal phenotypes
… between the inner retina and glaucoma using Mendelian randomisation analysis. I next performed GWAS of the thickness of the outer retinal layers, including both the component photoreceptor cell layers (the outer nuclear layer, inner segment, and outer segment), and the retinal pigment …
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Causal inference in integrative genomics: exploring de novo mutations and unravelling causal mechanisms via gene regulatory networks in developmental process
… particularly testis. Furthermore, we applied Mendelian randomisation approach with phenome-wide association studies to identify environmental factors affecting the generation of DNMs together with UK Biobank databases. We ended up with the conclusion that early onset of menopause is associated …
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Genetic Determinants of Body Weight and Physical Maturation Across the Life Course
… factors influence puberty timing, I used a Mendelian randomisation approach to infer the causal effects of sex hormones and markers of glucose metabolism on puberty timing in girls and boys. Higher testosterone bioactivity, insulin-like growth factor 1 bioaction and insulin resistance …
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Effects of blood donation and iron homeostasis on medium and long term cardiometabolic outcomes
… serum iron). These variants were used to conduct Mendelian randomisation analyses of 21 cardiometabolic outcomes in up to 898,130 participants while accounting for genetic pleiotropy. No association achieved significance after controlling the false-discovery rate, but several nominally significant …
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Understanding the Aetiology of Metabolic Diseases and Related Phenotypes through Human Genetics
… and diseases. Another important method, Mendelian randomisation (MR), leverages genetic variants as natural experiments to investigate potential causal relationships between modifiable risk factors and diseases. This thesis used both approaches to explore the genetic basis of metabolic …
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Meat consumption and type 2 diabetes: investigating heterogeneity and potential causal mechanisms
… metabolites in T2D incidence by conducting Mendelian randomisation (MR) analyses. I observed weak evidence of possible causal associations between meat-related metabolites and incident T2D, possibly due to limited power and weak genetic instruments. In an analysis in two large studies …
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Investigation of Genetic and Behavioural Determinants of Type 2 diabetes and Glycaemic Traits
… and developed a genetic risk score for CRF. In Mendelian randomisation analyses, I showed that the associations of this score with T2D and hyperinsulinaemia were compatible with underlying causal relationships. High-throughput metabolomics based on large-scale population studies offers a great …
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Proteomic Signatures of Type 2 Diabetes and Related Metabolic Traits
Advances in profiling technologies have enabled systematic assessment of a plethora of molecules from genome via proteome to a variety of metabolic phenotypes, providing unique opportunities to better understand disease mechanisms and identify molecular signatures that can help to predict, screen …