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 84 for “"Genetic Association"”.
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Haplotype block and genetic association
… variation, which can reduce the complexity in genetic mapping studies. This dissertation focuses on estimating haplotype block structures and their application to genetic mapping using single nucleotide polymorphisms (SNPs) from unrelated individuals. Among other issues, the traditional single …
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Genetic association of high-dimensional traits
… the past ten years, more than 4,000 genome-wide association studies (GWAS) have helped to shed light on the genetic architecture of complex traits and diseases. In recent years, phenotyping of the samples has often gone beyond single traits and it has become common to record multi- to …
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Genetic association between schizophrenia and type-2 diabetes
… have a high risk of T2D. In order to clarify a genetic association between these two conditions, this study was designed to investigate a genetic pathway that might be associated with both schizophrenia and T2D, and to explore whether clozapine could affect expression of the genes associated …
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Genetic Association Mapping : Missing Markers, Epistatic Effects, and Applications
<p>Association mapping has been widely used to detect desirable genetic markers associated with traits of interest for plant improvement. Missing marker data are a common and yet challenging issue in many association mapping studies, especially as the number of markers used for these studies is …
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Using phenotyped but ungenotyped relatives in genetic association tests
… collected, but who died before providing DNA for genetic studies. Genotypes of their relatives are often available. The main question we address is how and when one should incorporate phenotyped but ungenotyped relatives into genetic association tests. For genotypes missing completely at random …
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Genetic Association Study of Osteoporotic Vertebral Compression Fractures in Postmenopausal Women
… fractures in postmenopausal Korean women. Associations between the VEGF -2578C>A polymorphism and homocysteine levels were also noted. There was not significant association of MTHFR and TS polymorphisms with osteoporotic vertebral compression fractures. In summary, these results suggest …
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Bayesian Model Uncertainty and Prior Choice with Applications to Genetic Association Studies
… of motivation; the biological application of genetic association studies involving single nucleotide polymorphisms. While the most common approach to this problem has been to apply a marginal test to all genetic markers, we employ analytical strategies that improve upon these marginal methods …
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Novel Statistical Methods for Multiple-variant Genetic Association Studies with Related Individuals
Genetic association studies usually include related individuals. Meanwhile, high-throughput sequencing technologies produce data of multiple genetic variants. Due to linkage disequilibrium (LD) and familial relatedness, the genotype data from such studies often carries complex correlations. …
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Genetic association study of interleukin 6 receptor and liver X receptor in systemic lupus erythematosus
… by polymerase chain reaction. We screened for genetic variations in the IL6RA, IL6RB, NR1H3 and NR1H2 genes using directed sequencing. SNP genotyping was performed by using the SNaPSHOT ddNTP primer extension kit. The transcriptional activity according to SNP genotype was analyzed by luciferase …
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Machine learning for biological networks
Genetic studies often involve huge number of covariants that interact with each other, in the form of expressions or mutations. It is crucial to mine important covariants associated with different diseases for better clinical treatment. Traditional statistical methods have been successful in …
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The Molecular Mechanism Of The Gwas Association Of The Slc22a1 Locus With Metabolic Traits
… has been largely unexplored. Genome-wide association studies (GWASs) have revealed novel associations at the SLC22A1 locus for plasma acylcarnitine and low-density lipoprotein (LDL) cholesterol levels, suggesting previously unknown roles of SLC22A1 in the regulation of acylcarnitine and …
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An interdisciplinary approach leveraging human genetic variation to identify novel mechanisms of liver disease and pregnancy sickness
A major aim of human genetics in both academic in industrial spheres is to translate a genetic association to a mechanistic understanding of the disease process or trait being studied. The rewards in achieving this are large – a detailed mechanistic understanding of how genetic variation affects a …
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Extracellular matrix gene sequence variant analyses and Achilles tendinopathy
… aim of this thesis was to identify additional genetic elements predisposing individuals to risk of AT using a candidate gene, case-control genetic association approach, and to propose the biological mechanisms underlying this genetic risk. Candidate genes (COMP, THBS2, COL27A1, TNC, COL3A1, …
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Genetic risk factors for anterior cruciate ligament ruptures
… be associated with ACL ruptures, and then use a genetic association approach following a case-control study design to identify specific sequence variants (single nucleotide polymorphisms, SNPs) within these candidate genes which may predispose individuals to ACL ruptures. Candidate genes (COL1A1, …
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Pharmacological and Genetic Effects of Serotonin on Value-Based Decision-Making
… tryptopahin intervention and an associative genetic approach - a naturally occuring variation in the promoter region of the serotonin transporter gene (5-HTTLPR). Additionally, structural (DTI) and functional aspects (BOLD-fMRI) of the brain were assessed using magnetic resonance imaging in …
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