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 17 of 17 for “"Genome-wide Significance"”.
-
The relationship of microRNAs to clinical features of Huntington's and Parkinson's disease
… expressed in HD brain as compared to controls at genome-wide significance (FDR q<0.05). Among HD brains, nine miRNAs were significantly associated with the extent of neuropathological involvement in the striatum and three of these significantly related to a continuous measure of striatal …
-
Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.
… result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a severe, transfusion-dependent (TD) form expressing low Hb F. Both …
-
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
… to oesophageal adenocarcinoma (EAC). A previous genome-wide 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 …
-
Fine mapping studies of quantitative trait loci for baseline platelet count in mice and humans
… two (Pltct1 and Pltct2) had been found to reach genome-wide statistical significance. Fine mapping was attempted by three independent approaches. First, a human association study for platelet count was performed, and a cross-species comparison conducted to identify regions where human …
-
The genetic determinants of cardiovascular disease in patients with type 2 diabetes
… signals in ADAMTS7 associated with CAD at genome wide significance. Tests for heterogeneity of allelic effects for known CAD loci showed significant heterogeneity for signals in the 9p21 region, ADAMTS7, ABO, and VEGFA. A meta-analysis of LEAD replicated known associations in the 9p21 …
-
Are maternal symptoms of depression/PTSD and Child Genetic risk scores for depression/PTSD associated with childhood subcortical brain volumes?
… volumes were tested using linear regression. A genome-wide association study (GWAS; N = 163) was used to investigate genetic associations with these subcortical volumes, and trans-ancestry genetic correlations between African and European cohorts were estimated using Popcorn. For depression, …
-
Admixture Mapping of Subclinical and Clinical Cardiovascular Disease among African Americans
… Americans from the MESA cohort, and we found a genome-wide significant gene region on chromosome 11 in the SERGEF gene associated with higher cCIMT. This same region was also associated with higher odds of stroke but no other clinical CV events. The second aim (chapter 4) evaluated the …
-
Recessive and rare variant effects on common diseases and the immune cell transcriptome
… identifying 207 loci that reached standard genome-wide significance (p-value 5x10-8) under the recessive model and were more significant than under the additive model. Of these, about 70% demonstrated a nominally-significant (p-value 0.05) dominance deviation p-value. I discuss several …
-
Genetic Predictors of Metabolic Side Effects of Diuretic Therapy
… to thiazide diuretic treatment. I performed a genome-wide association study (GWAS) and meta-analysis of the change in fasting plasma glucose and triglycerides in response to HCTZ from two different clinical trials: the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) and the …
-
Bone morphogenetic proteins 9 & 10 in pulmonary arterial hypertension
… mutations in GDF2 were associated with PAH with genome-wide significance in a rare-variant analysis. Most of the identified mutations were missense. To validate their effect in vitro, I compared a selection of those predicted to be pathogenic in silico to those predicted to be benign. Pathogenic …
-
Cortisol responsive gene networks in cardiovascular disease
… this process are poorly understood. A genome wide meta-analysis by the CORtisol NETwork (CORNET) consortium identified genetic variants, spanning the SERPINA6/SERPINA1 locus on chromosome 14, associated with morning plasma cortisol and shown to be causal for ischaemic heart disease. …
-
A Pilot Study- Identify Genetic Variants for Diabetic Cataract Using GoDARTS Dataset
… contributors of diabetic cataract based on a genome-wide association approach using a well-defined Scottish diabetic cohort.<br/><br/><b>Methods</b>: A diabetic cataract case in this study was defined as a type 2 diabetic patient who has ever been recorded in the linked e-health records to …
-
Genetic and dietary determinants of Type 2 diabetes in a black South African population
… variants associated with T2D using novel whole genome sequences of people of Setswana descent; 3) the nutrient patterns associated with glycated hemoglobin and fasting glucose in a black South African population. Methods: Four types of genetic risk scores (GRS) were computed using the 66 SNPs …
-
Detection, causes and consequences of sex chromosome mosaicism
… of LOX are still very limited. The most recent genome-wide association study (GWAS) to investigate the genetic determinants of LOY in 205,011 males identified 156 independent signals and highlighted a key role for genes involved in cell-cycle regulation and DNA damage response. Population …
-
A Genome-wide Association Study of Schizophrenia in the South African Xhosa and Generalizability of Polygenic Risk Score across African populations
… the most genetic variation globally and facing wide-ranging environmental exposures. Most of these studies have been conducted in populations of European (EUR) ancestry using GWAS arrays that represent the genetic variation in these populations. Thus, the prediction accuracy of polygenic risk …
-
Genome-Wide Association Analysis of Major Depressive Disorder and Its Related Phenotypes.
… that ranks fourth as cause of disability worldwide. Thirteen to 14 million adults in the U.S. are believed to have MDD and an estimated 75% attempt suicide making MDD a major public health problem. Recently several genome-wide association (GWA) studies of MDD have been reported; however, few …
-
Identification of genetic loci underlying equine metabolic syndrome and laminitis risk
… for linkage disequilibrium (regions of the genome which are not independent as they are inherited together). The confounders of age, sex and season were included in the model based on the Akaike information criteria. In the Welsh ponies, seven of the nine biochemical traits had h2SNP …