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.
Results
Showing 1 to 20 of 24 for “"susceptibility loci"”.
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A molecular genetic analysis of Crohn’s disease susceptibility loci in psoriasis
… studies have identified a major disease susceptibility locus (PSORS1) and several genetic determinants of smaller effect. At least two of these (the IL12B and IL23R genes) have independently been associated with Crohn’’s disease (CD). Thus, the aim of this project was to investigate the …
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A linkage study of autism using multipoint sib-pair analysis
… scanned the entire human genome for autism susceptibility genes in 90 American multiplex families, making this the largest genome screen in autism to date. Candidate regions were also run in an additional group of 41 Australian multiplex families. One hundred of the total of 519 markers were …
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Characterization of 𝘈𝘵𝘩𝘴𝘲1, an Atherosclerosis Modifier Locus on Mouse Chromosome 4:
… unknown. Attempts to map common atherosclerosis susceptibility loci in humans have resulted in limited success. Mouse models provide an excellent tool for dissecting genetic complexity, and testing the role of candidate genes and pathways. While recent genome-wide association studies in humans …
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The Prevalence of Obesity in Selected Hutterite Colonies
… in the Linkage Studies of Asthma: Search for Susceptibility Loci, a grant funded by the National Institutes of Health. Adult Hutterites also completed a self report questionnaire on perceived body weight. Obesity was defined by body mass index. The prevalence in adult Hutterites 32.7% (males …
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Insights into the Iimmune Mechanisms Leading to Lupus-like Autoimmunity in New Zealand Black Mice
… immunologic abnormalities, together with lupus susceptibility loci that produce them, that promote the development of autoimmunity in the lupus-prone New Zealand Black (NZB) background. Chapter 2 identifies the critical role of CD40-CD40L interactions in the pathogenesis of disease in NZB mice. …
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Identification of Two Novel Genome-Wide Significant Single Nucleotide Polymorphisms, associated with Barrett’s Oesophagus, determined by further Replication of a Genome-Wide Association Study
… association study (GWAS) identified BE susceptibility Single Nucleotide Polymorphisms (SNPs) on chromosome 6p21, within the HLA region, and16q23, where the closest protein-coding gene was FOXF1. The replication study outlined in this thesis aimed to identify possible additional variants …
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A genome-wide linkage scan and targeted family-based association analysis of dyslexia
… disorder with a strong genetic component; nine susceptibility loci (DYX1-9) have been identified with eight other dyslexia linkages lacking gene symbols also reported. The statistical methods of linkage and association were employed to investigate the genetic susceptibility for phonological …
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Genetic and functional investigation of sequence variation associated with the related phenotypes: birth weight, obesity, and type 2 diabetes (T2D)
… obesity and T2D in adulthood, with several T2D susceptibility loci reported to be associated with fetal birth weight, including the leptin receptor gene (LEPR). Aims: To ascertain if maternal candidate loci contribute to fetal birth weight variation in a Gujarati South Asian immigrant population …
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A Mutation in Alk6b Causes Impaired Germ Cell Differentation and Testicular Germ Cell Tumors in Zebrafish
… a forward genetic screen to identify cancer susceptibility loci. Homozygous adult males develop tumors consisting of undifferentiated spermatogonia by 4 months of age while heterozygous males develop tumors around 7 to 9 months of age. We used interval haplotype analysis and high-resolution …
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Gene polymorphisms in SLE
… very successful, with over 28 confirmed disease susceptibility loci mapped and a number of candidate genes identified. During this thesis I fine mapped IL18 as it had previously been reported to be associated with SLE, SNP rs360719. After fine mapping and subphenotype analysis in UK and African …
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Understanding low-penetrance genetic risk for breast cancer
… a number of more common low-penetrance susceptibility loci for breast cancer. Although each individual locus confers a relatively lower increase in risk, it is has been shown that when combined under a log-additive model they provide a modest level of risk discrimination in European …
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Multiple sclerosis associated SNPs influencing B cell expression of co-stimulatory receptors and T cell responses
… environmental factors. Although more than 200 susceptibility loci have been identified through genome-wide association studies, our understanding of the molecular mechanisms underlying these associations remains limited. My predecessor in the laboratory established that the MS associated …
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Characterising the gene regulatory landscape of CD4+ T cells
… to disease are not well understood. Immune susceptibility loci identified by genome wide association studies (GWAS) overlap with active regulatory elements in CD4+ T cells, and particularly in regulatory T cells (Tregs). CD4+ T cells are the orchestrators of the adaptive immune response and …
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The Genetics of Anti-Neutrophil Cytoplasmic Antibody Associated Vasculitis (AAV)
… distinct autoimmune syndromes, though only three loci specific to PR3-AAV and one to MPO-AAV have been identified to date. With the European Vasculitis Genetics Consortium, we conducted a larger GWAS, powered to discover additional risk loci in both PR3-AAV and MPO-AAV independently. A …
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IDENTIFYING GENES THAT CONTRIBUTE TO TYPE 2 DIABETES SUSCEPTIBILITY IN CAUCASIAN AND AFRICAN AMERICANS
… as part of this project we evaluated 12 T2DM susceptibility loci identified in genome-wide association analyses of European-derived populations in a large African American population consisting of 993 diabetic cases and 1054 controls. Sixty eight ancestry-informative markers (AIMs) were also …
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GENOME-WIDE ASSOCIATION STUDY OF NON-INVASIVE ASSESSMENT OF LIVER FIBROSIS IN MASLD: EVIDENCE FROM AN ITALIAN POPULATION
… were identified at the MRC1 and MAGEE2 loci for FIB-4, and at IFI27 and DIAPH2 for FNI, implicating immune regulation and cytoskeletal remodeling as additional pathways driving fibrosis susceptibility. Replication analyses in the UK Biobank (UKBB, N>400,000) validated associations at …
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Genetic Resistance to the Downy Mildew Pathogen and Breeding towards Durable Disease Management in Spinach
… by determining the stage specific resistance and susceptibility responses.</p> <p>The IsoSeq studies identified the potential genes encoding the RLK, RLP, PR- protein and additional WRKY and NAC domain proteins localized on chromosomes 1, 3, 4, 5 and 6 specific to the downy mildew infection in …
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Contribution of the Microenvironment in Bone Resident Cancer: the Role of Thrombospondin-1 in Bone and Risk Loci Contributing to Multiple Myeloma
… the identification of genes conferring inherited susceptibility to multiple myeloma that participate both in malignant cells and in host supportive cells.</p><p>TSP1 is a large matricellular protein that interacts β3 integrin, CD47, and other receptors to regulate cell migration, adhesion, and …
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Genetic Modulation of the Neonatal Neural Processing of Speech at High and Low Familial Risk for Developmental Dyslexia
… Despite the identification of several dyslexia susceptibility genes, little is known about the mechanisms by which genetic abnormalities give rise to neural deficits and how these in turn generate phonological deficits. Here, we hypothesised that common genetic polymorphisms in major dyslexia …
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Causal Gene Prioritization Across Diverse Diseases Through Multi-Omic Data Integration
… (GWASs) have identified thousands of disease susceptibility loci, yet the underlying causal variants, genes and tissues of action are unknown for most of the reported associations. This limits our biological understanding of the mechanisms underlying diseases and presents a major bottleneck …
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