Genome-wide association studies have been used extensively to study hundreds of phenotypes and have determined thousands of associated SNPs whose underlying biology and causation is as yet largely unknown. Many previous studies attempted to clarify the causal biology by investigating overlaps of trait-associated variants with functional annotations, but lacked statistical rigor and examined incomplete subsets of available functional annotations. Additionally, it has been difficult to disentangle the relative contributions of different annotations that may show strong correlations with one another. In this thesis, we address these shortcomings and strengthen and extend the obtained results. Two methods, permutations and logistic regression, are applied in statistically rigorous analyses of genomic annotations and their observed enrichment or depletion of trait-associated SNPs. The genomic annotations range from genic regions and regulatory features to measures of conservation and aspects of chromatin structure. Logistic regressions in a number of trait-specific subsets identify genomic annotations influencing SNPs associated with both normal variation (e.g., eye or hair colour) and diseases, suggesting some generalities in the biological underpinnings of phenotypes. SNPs associated with phenotypes of the immune system are investigated and the results highlight the distinct aetiology for this subset. Despite the heterogeneity of the studied cancers, SNPs associated to different cancers are particularly enriched for conserved regions, unlike all other trait-subsets. Nonetheless, chromatin states are, perhaps surprisingly, among the most influential genomic annotations in all trait-subsets. Evolutionary conserved regions are rarely within the top genomic annotations despite their widespread use in prioritisation methods for follow-up studies. We identify a common set of enriched or depleted genomic annotations that significantly influence all traits, but also highlight trait-­‐specific differences. These annotations may be used for the computational prioritisation of variants implicated in phenotypes of interest. The approaches developed for this thesis are further applied to studies of a specific human complex trait (height) and gene expression in atherosclerosis.

published_or_final_version / Sociology / Master / Master of Philosophy

Charisma has remained an important dimension of humankind’s social life, especially when religion is concerned. This thesis aims to address the question of how charisma is maintained even as it becomes routinized. In the sociology of Max Weber, charisma is defined as the extraordinary quality of a leader recognized by his followers and constitutes a type of authority in contrast to legal-rational and traditional authorities. Weber then proposed the thesis of the routinization of charisma, arguing that charisma was revolutionary, yet also inherently ephemeral and would inevitably be “routinized” into legal-rational or traditional authority. Recent studies have remodeled the concept of charisma based on empirical cases and theoretical contributions provided by prolific literature after Weber. Charisma has been redefined as “the expectation of the extraordinary” and the interdependence of charisma, institution and tradition has been increasingly emphasized, instead of their mutual exclusiveness. To address the question, this study examines the case of Soka Gakkai and Soka Gakkai International (SG&I), a new religion, which originated in prewar Japan. It has established a gigantic organization with an alleged membership of twelve million throughout the world and has developed various institutions affiliated to it. Meanwhile, its current leader, Ikeda Daisaku (池田大作), is well known as a charismatic leader to whom millions of members have expressed personal devotion for over five decades. It specifically focuses on young male Japanese members living in Hong Kong, who can be regarded in the periphery of the organization. This study argues that discipleship of followers is the key to the maintenance of charisma. Discipleship shapes members’ identity, daily practice and lives. Ethnographic accounts on members’ daily activities and the life stories of three members, yielded through eight months of fieldwork, illustrate members’ paths to become disciples and the nature of their discipleship. Also, the techniques employed by the organization to cultivate the discipleship are demonstrated. These include reinterpreting a Japanese traditional concept shitei (mentor and disciple), cultivating discipleship in secular educational institutions and offering rhetorical devices such as commemorative dates. My findings not only enhance our understanding of charisma and its routinization, but also shed light on the daily activities of grassroots members of SG&I, which until recently, have been neglected by literature on SG&I. / published_or_final_version / Sociology / Master / Master of Philosophy

Quantitative Trait Loci (QTL) mapping has been widely used to identify genetic loci attributable to the variation observed in complex traits. In recent years, gene expression phenotypes have emerged as a new type of quantitative trait for which QTL can be mapped. Locating sequence variation that has an effect on gene expression (eQTL) is thought to be a promising way to elucidate the genetic architecture of quantitative traits. This thesis explores a number of methodological aspects of eQTL mapping (also known as “genetical genomics”) and considers some practical strategies for applying this approach to livestock populations. One of the exciting prospects of genetical genomics is that the combination of expression studies with fine mapping of functional trait loci can guide the reconstruction of gene networks. The thesis begins with an analysis in which correlations between gene expression and meat quality traits in pigs are investigated in relation to a pork meat quality QTL previously identified. The influence on power due to factors including sample size and records of matched subjects is discussed. An efficient experimental design for two-colour microarrays is then put forward, and it is shown to be an effective use of microarrays for mapping additive eQTL in outbred crosses under simulation. However, designs optimised for detecting both additive and dominance eQTL are found to be less effective. Data collected from livestock populations usually have a pedigreed structure. Many family-based association mapping methods are rather computationally intensive, hence are time-consuming when analysing very large numbers of traits. The application of a novel family-based association method is demonstrated; it is shown to be fast, accurate and flexible for genetical genomics. Furthermore, the results show that multiple testing correction alone is not sufficient to control type I errors in genetical genomics and that careful data filtering is essential. While it is important to limit false positives, it is desirable not to miss many true signals. A multi-trait analysis based on grouping of functionally related genes is devised to detect some of the signals overlooked by a univariate analysis. Using an inbred rat dataset, 13 loci are identified with significant linkage to gene sets of various functions defined by Gene Ontology. Applying this method to livestock species is possible, but the current level of annotations is a limiting factor. Finally, the thesis concludes with some current opinions on the development of genetical genomics and its impact on livestock genetics research.

Linkage between markers and genes that affect a phenotype of interest may be determined by examining differences in marker allele frequency in the extreme progeny of a cross between two inbred lines. This strategy is usually employed when pooling is used to reduce genotyping costs. When the cross progeny are asexual the extreme progeny may be selected by multiple generations of asexual reproduction and selection. In this thesis I will analyse this method of measuring phenotype in asexual cross progeny. The aim is to examine the behaviour of marker allele frequency due to selection over many generations, and also to identify statistically significant changes in frequency in the selected population. I will show that stochasticity in marker frequency in the selected population arises due the finite initial population size. For Mendelian traits, the initial population size should be at least in the low to mid hundreds to avoid spurious changes in marker frequency in the selected population. For quantitative traits the length of time selection is applied for, as well as the initial population size, will affect the stochasticity in marker frequency. The longer selection is applied for, the more chance of spurious changes in marker frequency. Also for quantitative traits, I will show that the presence of epistasis can hinder changes in marker frequency at selected loci, and consequently make identification of selected loci more difficult. I also show that it is possible to detect epistasis from the marker frequency by identifying reversals in the direction of marker frequency change. Finally, I develop a maximum likelihood based statistical model that aims to identify significant changes in marker frequency in the selected population. I will show that the power of this statistical model is high for detecting large changes in marker frequency, but very low for detecting small changes in frequency.

This study was conducted to investigate factors that contribute to resilience in students with learning disabilities (LD). The risk-resilience framework provided the theoretical base for selecting school and personal factors that might predict resilience. School and personal data were requested from large, culturally and linguistically diverse samples of individuals diagnosed with LD. A 12 variable model and three cluster models (combined variables) were developed. Discriminant analysis and tests of significance of hit rates were conducted to assess the accuracy of the full model (all 12 variables) to the prediction of resilience, and full versus restricted model testing was done to assess individual variable and cluster (combinations of some variables) contributions to the model. Additionally, analyses of environmental, intrapersonal, and interpersonal cluster models were investigated to determine their relative contribution to the prediction of resilience in relation to the others. Results of the full model analysis and subsequent tests of significance of hit rate indicated modest cross validated classification accuracy for the total group, resilient group, and non-resilient group. However, the model was not significantly better than chance, overall, at predicting resilience and non-resilience in students with LD. Results of the analysis of individual predictor variables’ and clusters’ contributions to the model’s classification accuracy indicated that no individual variable within the full model, nor cluster of interrelated variables contributed significant incremental improvement in classification accuracy above and beyond that which is available from all other variables contained in the full model. The independent analysis of interrelated personal and school related factors clustered as environmental, interpersonal, and intrapersonal clusters revealed that, as unique and separate models, classification accuracy of cross-validated group cases were less than optimal for each cluster. The results further demonstrate that resilience is affected by both internal and external factors. Although the results also demonstrate that factors work together, a great deal is still to be learned regarding factors affecting resilience as well as their interplay in clusters of factors that affect resilience. / Includes bibliography. / Dissertation (Ph.D.)--Florida Atlantic University, 2019. / FAU Electronic Theses and Dissertations Collection

Resilience is imperative during adolescence. Previous studies focused on the moderating role of parenting between temperament and adaptive outcomes in children (Karreman et al., 2010; Wang et al., 2016). However, little is known about how personality such as neuroticism affects resilience during adolescence, and how parenting influences neuroticism and resilience at this life stage. The current study investigated the longitudinal effects of neuroticism and both positive and negative parenting on selfreports of resilience in a sample of high-school adolescents in Lithuania (N = 859). The results suggested that high levels of neuroticism predicted declining rates of resilience. This association was moderated by parent support and behavioral control. Specifically, high levels of parent support and behavioral control would attenuate the effect of neuroticism on resilience during adolescence, but only when the neuroticism level of the individual was not high. The findings indicate that the neuroticism erodes the advantages that are otherwise associated with positive parenting. The findings have important implications. Good parenting is effective to foster resilience among children with low neuroticism, but for children with high neuroticism, more attention should be paid to the specific skills that might directly foster resilience rather than relying on parenting. / Includes bibliography. / Thesis (M.S.)--Florida Atlantic University, 2019. / FAU Electronic Theses and Dissertations Collection

No description available.

This thesis began largely as an exploration into right-wing political ideology and its relationship to The Authoritarian Personality proposed by Adorno, Frenkel-Brunswick, Levinson and Sanford (1950). It had initially been envisaged that contemporary examples would manifest themselves within many neo-Fascist or ‘White Pride’ style organisations and as an adage to their supposed historical underpinnings, would therefore be representative of modern day authoritarianism. As previously discovered by Eysenck and Coulter (1974) in their examination of British Fascists and Communists, the authoritarian syndrome is somewhat more complex to explain by way of reference to a number of radical semi-political organisations. Subsequently, the thesis was to take on a deeper and more philosophical direction as various parts of the literature were analysed and critiqued. And indeed to some extent the original proposal was abandoned in favour of a richer and more conceptual approach to our understanding of authoritarianism. This was discovered to be distinctly missing from the majority of the current literature in the field.

Dissertation (PhD)--University of Stellenbosch, 2006. / Bibliography. Also available via the Internet.