Spirituality and Autonomous Religion in Southern Ontario: A Sociological and Theological Study

This thesis analyzes non-institutional forms of religion in Southern Ontario with depth and description, via interviews of a specific local population sample (n = 10), and provides interpretation of these phenomena within a practical theological perspective (via typology). This analysis shows measurable potential for the development of a form of personal theological autonomy that is prevalent in this sample of individuals. The aspirations of the participants have suggested two possible types emerging from this sample of spiritual adherents: 1) the “inclusive seeker” and 2) the “spiritual-political activist”. This sociological account of the so-called “spiritual but not religious” (SBNR; and in some but not all cases, “nones”) also informs practical theological reflection on ‘post Judeo-Christian esoteric spirituality.’ Suggestions are finally given that point towards a post-secular – though entirely pneumatological – theology which accounts for the autonomy of the individual outside of the institutional ecclesia

Extended twin study of alcohol use in Virginia and Australia

Drinking alcohol is a normal behavior in many societies, and prior studies have demonstrated it has both genetic and environmental sources of variation. Using two very large samples of twins and their first-degree relatives (Australia ≈ 20,000 individuals from 8,019 families; Virginia ≈ 23,000 from 6,042 families), we examine whether there are differences: (1) in the genetic and environmental factors that influence four interrelated drinking behaviors (quantity, frequency, age of initiation, and number of drinks in the last week), (2) between the twin-only design and the extended twin design, and (3) the Australian and Virginia samples. We find that while drinking behaviors are interrelated, there are substantial differences in the genetic and environmental architectures across phenotypes. Specifically, drinking quantity, frequency, and number of drinks in the past week have large broad genetic variance components, and smaller but significant environmental variance components, while age of onset is driven exclusively by environmental factors. Further, the twin-only design and the extended twin design come to similar conclusions regarding broad-sense heritability and environmental transmission, but the extended twin models provide a more nuanced perspective. Finally, we find a high level of similarity between the Australian and Virginian samples, especially for the genetic factors. The observed differences, when present, tend to be at the environmental level. Implications for the extended twin model and future directions are discussed

Bridging the gap: Short structural variants in the genetics of anorexia nervosa

Anorexia nervosa (AN) is a devastating disorder with evidence of underexplored heritability. Twin and family studies estimate heritability (h2) to be 57%–64%, and genome-wide association studies (GWAS) reveal significant genetic correlations with psychiatric and anthropometric traits and a total of nine genome-wide significant loci. Whether significantly associated single nucleotide polymorphisms identified by GWAS are causal or tag true causal variants, remains to be elucidated. We propose a novel method for bridging this knowledge gap by fine-mapping short structural variants (SSVs) in and around GWAS-identified loci. SSV fine-mapping of loci associated with complex disorders such as schizophrenia, amyotrophic lateral sclerosis, and Alzheimer's disease has uncovered genetic risk markers, phenotypic variability between patients, new pathological mechanisms, and potential therapeutic targets. We analyze previous investigations' methods and propose utilizing an evaluation algorithm to prioritize 10 SSVs for each of the top two AN GWAS-identified loci followed by Sanger sequencing and fragment analysis via capillary electrophoresis to characterize these SSVs for case/control association studies. Success of previous SSV analyses in complex disorders and effective utilization of similar methodologies supports our proposed method. Furthermore, the structural and spatial properties of the 10 SSVs identified for each of the top two AN GWAS-associated loci, cell adhesion molecule 1 (CADM1) and NCK interacting protein with SH3 domain (NCKIPSD), are similar to previous studies. We propose SSV fine-mapping of AN-associated loci will identify causal genetic architecture. Deepening understandings of AN may lead to novel therapeutic targets and subsequently increase quality-of-life for individuals living with the illness

The association of genetic predisposition to depressive symptoms with non-suicidal and suicidal self-Injuries

Non-suicidal and suicidal self-injury are very destructive, yet surprisingly common behaviours. Depressed mood is a major risk factor for non-suicidal self-injury (NSSI), suicidal ideation and suicide attempts. We conducted a genetic risk prediction study to examine the polygenic overlap of depressive symptoms with lifetime NSSI, suicidal ideation, and suicide attempts in a sample of 6237 Australian adult twins and their family members (3740 females, mean age\ua0=\ua042.4\ua0years). Polygenic risk scores for depressive symptoms significantly predicted suicidal ideation, and some predictive ability was found for suicide attempts; the polygenic risk scores explained a significant amount of variance in suicidal ideation (lowest p\ua0=\ua00.008, explained variance ranging from 0.10 to 0.16\ua0%) and, less consistently, in suicide attempts (lowest p\ua0=\ua00.04, explained variance ranging from 0.12 to 0.23\ua0%). Polygenic risk scores did not significantly predict NSSI. Results highlight that individuals genetically predisposed to depression are also more likely to experience suicidal ideation/behaviour, whereas we found no evidence that this is also the case for NSSI

A variant in LIN28B is associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure

The ratio of the lengths of an individual's second to fourth digit (2D:4D) is commonly used as a noninvasive retrospective biomarker for prenatal androgen exposure. In order to identify the genetic determinants of 2D:4D, we applied a genome-wide association approach to 1507 11-year-old children from the Avon Longitudinal Study of Parents and Children (ALSPAC) in whom 2D:4D ratio had been measured, as well as a sample of 1382 12- to 16-year-olds from the Brisbane Adolescent Twin Study. A meta-analysis of the two scans identified a single variant in the LIN28B gene that was strongly associated with 2D:4D (rs314277: p = 4.1 108) and was subsequently independently replicated in an additional 3659 children from the ALSPAC cohort (p = 1.53 106). The minor allele of the rs314277 variant has previously been linked to increased height and delayed age at menarche, but in our study it was associated with increased 2D:4D in the direction opposite to that of previous reports on the correlation between 2D:4D and age at menarche. Our findings call into question the validity of 2D:4D as a simplistic retrospective biomarker for prenatal testosterone exposure

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population

Acknowledgements Generation Scotland has received core funding from the Chief Scientist Office of the Scottish Government Health Directorates CZD/16/6 and the Scottish Funding Council HR03006. We are grateful to all the families who took part, the general practitioners and the Scottish School of Primary Care for their help in recruiting them and the whole Generation Scotland team, which includes interviewers, computer and laboratory technicians, clerical workers, research scientists, volunteers, managers, receptionists, health-care assistants and nurses. We acknowledge with gratitude the financial support received for this work from the Dr Mortimer and Theresa Sackler Foundation. For the Lothian Birth Cohorts (LBC1921 and LBC1936), we thank Paul Redmond for database management assistance; Alan Gow, Martha Whiteman, Alison Pattie, Michelle Taylor, Janie Corley, Caroline Brett and Caroline Cameron for data collection and data entry; nurses and staff at the Wellcome Trust Clinical Research Facility, where blood extraction and genotyping was performed; staff at the Lothian Health Board; and the staff at the SCRE Centre, University of Glasgow. The research was supported by a program grant from Age UK (Disconnected Mind) and by grants from the Biotechnology and Biological Sciences Research Council (BBSRC). The work was undertaken by The University of Edinburgh Centre for Cognitive Ageing and Cognitive Epidemiology, part of the cross council Lifelong Health and Wellbeing Initiative (MR/K026992/1). Funding from the Medical Research Council (MRC) and BBSRC is gratefully acknowledged. DJM is an NRS Career Research Fellow funded by the CSO. BATS were funded by the Australian Research Council (A79600334, A79906588, A79801419, DP0212016, DP0664638, and DP1093900) and the National Health and Medical Research Council (389875) Australia. MKL is supported by a Perpetual Foundation Wilson Fellowship. SEM is supported by a Future Fellowship (FT110100548) from the Australian Research Council. GWM is supported by a National Health and Medical Research Council (NHMRC), Australia, Fellowship (619667). We thank the twins and siblings for their participation, Marlene Grace, Ann Eldridge and Natalie Garden for cognitive assessments, Kerrie McAloney, Daniel Park, David Smyth and Harry Beeby for research support, Anjali Henders and staff in the Molecular Epidemiology Laboratory for DNA sample processing and preparation and Scott Gordon for quality control and management of the genotypes. This work is supported by a Stragetic Award from the Wellcome Trust, reference 104036/Z/14/Z.Peer reviewedPublisher PD

Genetic and Environmental Influences on Literacy and Numeracy in Australian School Children

Each year, Australian students in Grades 3, 5, 7, and 9 sit nationwide tests in literacy and numeracy. These tests inform government, principals, and parents about student, school, and state performance in five domains: reading, spelling, grammar and punctuation, writing, and numeracy. As such, the results of these tests are of wide interest for diverse reasons depending on the stakeholder in question. In this thesis I examine the influence of genes and the environment on individual differences in performance on these tests. Using longitudinal data collected from a large sample of Australian twins and their siblings.
 Initially, as a test of validity, I compared the performance of large-scale reading tests against three literacy tests in comprehension, word reading and vocabulary individually administered to twins in Grade 3. The individually administered tests accounted for a substantial amount of the variance in the large-scale reading tests. Additionally, they were preferentially related, both genetically and environmentally, to large-scale reading tests compared to large-scale numeracy tests, confirming that large-scale school reading tests measure, at least in part, the literacy skills tapped by individual tests considered “gold-standard” in testing.
 In the second paper, I examined the extent to which genes and the environment contributed to variation in and covariation among the five domains in each grade. Averaged across domains and grade, genetic factors explained 60%, shared environment 10%, and unique environment 30% of the variation. Independent pathway models showed similar genetic and environmental structures at each grade with approximately one third to one half of the variation in each domain due to genes that influenced all domains.
 In the third paper, I explored the genetic and environmental influences on stability and growth in each of the domains. Stability in performance was primary due to genes. For growth, reading followed a compensatory growth pattern, and variation in growth was due to the genes that also influenced differences in performance at initial testing. By contrast, growth in numeracy was principally influenced by unique environmental factors. These results suggest individual differences in growth of reading are primarily due to a genetically influenced developmental delay in the acquisition of necessary skills, while for numeracy, differences are due to environmental influences, such as different teachers or interests.
 In the fourth paper, I tested if family or school SES moderated heritability of performance. Genetic influence was substantial and stable across all levels of family and school SES, with some evidence of a stronger influence of the shared environment when SES was lower, particularly for Grade 3 literacy. A final chapter presents a discussion summarising the principal findings, their implications, and their limitations