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 20 of 22 for “"genetic risk factor"”.
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Autoimmune Susceptibility Imposed by Public TCRβ Chains
… complex (MHC) is the strongest genetic risk factor for autoimmunity. It acts together with a corresponding TCR repertoire, yet, considering the extent of the repertoire's diversity, how this imposes disease susceptibility on a population is not well understood. We address the …
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MODELLING GBA1-RELATED PARKINSON¿S DISEASE PATHOLOGY IN PATIENT-DERIVED MIDBRAIN ORGANOIDS
… Gaucher’s disease and are the most frequent genetic risk factor for Parkinson’s disease. However, a defined link between mutations in GBA1 and Parkinson’s disease pathology is yet to be determined, largely because of the absence of experimental models able to recapitulate the defining …
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Developmental origins of cortical circuit dysfunction in a 22q11 deletion mouse model
… 22q11.2 deletion syndrome (22q11DS) is a major genetic risk factor for psychiatric illness and provides an optimal genetic model disease to explore how gene dosage imbalance impacts cortical circuit development. Study 1 examined the developmental origin of upper layer 2/3 projection neuron (PNs) …
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Genetic Characterisation of Neurodegenerative disorders
… of sporadic neurodegenerative diseases, the genetic association approach was used in the work of this thesis to identify the multiple variants of small effect that may modulate susceptibility to common, complex neurodegenerative diseases. It has been shown that the common genetic variation of …
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CARDIOVASCULAR AUTONOMIC IMPAIRMENT IN GBA PARKINSONIAN PATIENTS
… (GBA) gene are the most common genetic risk factor for Parkinson’s disease (PD). GBA-associated PD (GBA-PD) has been linked to a higher prevalence of non-motor symptoms compared to idiopathic PD (I-PD), raising the question of whether autonomic dysfunction is more frequent or …
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Personalised Medicine for Non-Alcoholic Fatty Liver Disease
… cancer. This thesis also aims to identify genetic modifiers of NAFLD risk in Scottish and South Indian populations.<br/><br/>Data from three retrospective Scottish cohorts with electronic health records (EHRs) were analysed in the current thesis. These were the GoDARTS, SHARE and Tayside …
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ApoE Receptors in Alzheimer's and CNS Function
… form of dementia over age 65. The predominant genetic risk factor for AD is the ε4 allele of apolipoprotein E (ApoE4). Other genes related to lipid metabolism and lipoprotein receptor signaling have also been identified as risk modifiers for AD. Despite nearly two decades of research, the …
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Effects of diet on behavioural domains relevant to schizophrenia- a preclinical perspective
… diet (HFD) in two mutant mouse models for the genetic risk factor neuregulin 1 (NRG1), the transmembrane domain Nrg1 (Nrg1 TM HET) and the Nrg1 type III (Nrg1 III tg) models, and how HFD in a maternal obesity model in C57BL/6J mice can modify schizophrenia-relevant behaviours. HFD increased …
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The APOE Pathway as a Modulator of Amyloid Pathology in Alzheimer's Disease Models
… E (APOE) ε4 allele is the strongest genetic risk factor for sporadic AD, with apoE protein crucial for brain lipid transport. ATP-binding cassette subfamily A member 1 (ABCA1), another risk gene, loads lipids onto apoE, highlighting the importance of lipid homeostasis in AD. …
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Functional study of ubiquitin C-terminal hydrolase-L1 gene promoter haplotypes
… haplotypes, potentially indicates a primary genetic risk factor for sporadic Parkinson’s disease in the Caucasian population – a novel pathogenic model of which is proposed in this thesis. The fact that RFLP genotyping analysis uncovered no association of the promoter polymorphic alleles with …
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Arterial Thrombosis in Factor V Leiden or Activated Protein C Resistance. Clinical and Experimental Studies.
… Activated protein C (APC) resistance due to Factor V Leiden mutation as the most prevalent genetic risk factor, yet known, for venous thromboembolism. This has been documented in 20-60% of patients with deep vein thrombosis (DVT). Whether such propensity also exists in arterial circulation is …
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Metabolism of omega-3 fatty acids in carriers of apolipoprotein E epsilon 4
… E epsilon 4 allele (APOE4) is the main genetic risk factor for late onset Alzheimer’s disease. Studies have found that consuming a diet rich in omega-3 fatty acids such as docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) can decrease the risk of developing Alzheimer’s disease. …
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The effects of the Parkinson’s disease-associated proteins LRRK2 and TMEM175 on the lysosomal profile of cultured mammalian cells under lysosomal stress conditions
… is increasingly recognised as a central factor in the development of Parkinson’s disease (PD). At least 11 out of the 24 PD-associated genes have been identified by genome-wide association studies (GWAS) to be involved in autophagy-lysosome pathways. Leucine-rich repeat kinase 2 (LRRK2) …
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Characterising the role of GPR50 in neurodevelopment and lipid metabolism
G-protein coupled receptor 50 (GPR50) is a genetic risk factor for psychiatric illness. It is a member of the melatonin receptor family, which includes the well characterised melatonin receptors 1 and 2 (MT1 and MT2). However, the ligand for GPR50 remains elusive and little is known about GPR50 …
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The Development and Implementation of a TMT-SRM Assay for the Validation of Candidate Biomarkers of Alzheimer’s Disease
… serum amyloid p-component and complement factor H. These proteins were previously found to be differentially expressed between plasma of Alzheimer’s disease subjects and non-demented controls. Additionally, apolipoprotein E4 was included in the panel as possession of the apolipoprotein e4 …
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The novel phosphorylation site PLCγ2 Y1217 facilitates the TREM2 amyloid-β sensing pathway in microglia
… age. A significant portion of loci linked to AD risk modulation identified in genome wide association studies have been confirmed to map to SNPs in genes highly enriched within microglia and include *BIN1*, *TREM2*, *PLCG2* and *CLU*. The TREM2 R47H mutation carries the second highest genetic …
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The Role of Apolipoprotein E Concentration and Isoform in Amyloid-beta Metabolism In Vivo
… forms of early-onset Alzheimer's disease, but factors that modulate the risk and onset for the more common sporadic, late-onset Alzheimer's disease are less understood. The strongest identified genetic risk factor for sporadic, late-onset Alzheimer's disease is the <italic>APOE</italic> e4 …
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Apolipoprotein E and propagation of pathological tau in Alzheimer’s Disease
… E (APOE) genotype is the strongest genetic risk factor for the late-onset AD, with APOE4 increasing risk and APOE2 conferring protection. The exact mechanisms by which APOE modulates AD risk remain to be comprehensively discerned. APOE influences Ab pathology, but distinct roles in …
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ROLE OF LECITHIN:CHOLESTEROL ACYLTRANSFERASE (LCAT) IN BRAIN CHOLESTEROL METABOLISM AND ITS INVOLVEMENT IN ALZHEIMER¿S DISEASE
… metabolism. In the brain apoE is the main LCAT cofactor, and apoE4, one of the three apoE isoforms, is the strongest known genetic risk factor for Alzheimer’s disease (AD), but its ability in activation of LCAT enzyme has never been investigated. Moreover, several epidemiological studies indicate …
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Ascertainment, prediction and implications of dementia diagnosis in a study of 'healthy' cognitive ageing: the Lothian Birth Cohort 1921
… While there is no cure, understanding the risks for dementia and how these may be minimised is key to reducing the impact of the disease. As life expectancy improves, increasing proportions of the population are expected to survive into advanced old age. As such, understanding the risks for …
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