Food insecurity in Brisbane : the single mother’s struggle

Using a feminist reflexive approach this paper reports on interviews with single mother’s in the Brisbane area about their experiences with food shopping and household food security. Preliminary findings suggest that most experience significant stress around the amount of money they have available for food. As the price of food and other costs of living increase, the only budget item that is flexible – groceries - is squeezed tighter. All women expressed a reluctance to ask for help from strangers at agencies instead relying on the support of family and friends to keep them food secure. Sometimes family and friends had no spare resources to help or were not aware of the extent their friend or relative might be struggling. The increased risks of poverty and food insecurity mean many go without as feeding the children takes precedence. The quality of their diets is variable with many reporting on aiming for quantity rather than being concerned with nutritional balance. Exhaustion and stress from being over-committed doing three roles, mother, father and housekeeper was self-identified as a key factor leading to mental health conditions such as depression, burnout and break down. Female single parent households are vulnerable to reducing welfare benefits as children grow or child support changes. Current policy forces single parents out to work but many can only manage part-time work for lower wages and are barely able to cope with this extra burden often resenting the reduction in benefits it brings. Public perceptions, derision and the notions of choice surrounding single parenting leave the cohort divided and silent for fear of reprisals. In my investigation issues arise about welfare policy that keep benefits low and workplace patriarchal power that can contribute to systemic poverty and the widening of the gender gap in poverty. So far analysis suggests a better support system around community food security including some hands on home help services, nutritional information, cooking classes, community gardening and other social capital building activities are needed for these women in order to avoid long-term health problems and help them better care for the next generation.

Raising Children in Single-Parent Families

Children from single-parent families fare more poorly on multiple outcomes than those in two-parent families. Most explanations for these differences assume that compromised parenting and parent mental health play a central role. This chapter explores the contribution of a range of factors to the parenting and mental health of single mothers using data from approximately 1000 Australian single mothers with a child aged 4–5 or 8–9 years. The findings show that single mothers are more likely than couple mothers to experience parenting and mental health difficulties; however, they also face heightened adversity in their home and extra-familial environments. Importantly, this comparison of single and couple mothers facing similar levels of adversity shows no difference in poor parenting practices, although single mothers remain more vulnerable to psychological distress. These findings have policy implications since they challenge the prevailing view that single-parent families inherently provide sub-optimal environments for raising children.

Welfare-to-work and the experience of single mothers in Australia : where are the benefits?

In July 2006 ‘welfare-to-work’ policies were introduced for single parents in Australia. These policies require most single parents with school aged children to be employed or seeking employment of 15-25 hours per week in return for their income support payment. The changes represented a sharp increase in the obligations applying to single parents on income support. This paper is concerned with how the well-being of single mothers who are combining income support and paid employment is being influenced by these stepped up activity requirements. The paper draws on data from semi-structured interviews with 21 Brisbane single mothers. The analysis explores participants’ experiences in the new policy environment utilizing the theoretical framework of ‘relational autonomy’. Relational approaches to autonomy emphasize the importance of relations of dependency and interdependency to the development of autonomy and well-being. The findings indicate that in their dealings with the welfare bureaucracy participants experienced a lack of recognition of their identities as mothers, paid workers and competent decision makers. These experiences have negative consequences for self worth, relational autonomy and ultimately the well-being of single parent families.

Dalby Shopping Precinct Survey Report : Consumer Attitudes towards Proposed Extended Trading Hours at Dalby

Data was collected to measure shopper’s attitudes toward the proposed Sunday and limited public holiday trading in Dalby. Survey questionnaires were conducted between 29th August to 31st August at Coles Dalby and Dalby Shoppingtown Plaza. In total, 150 respondents participated in the survey. Overall, the findings suggest that most respondents, especially males, couples with children, fulltime workers and those under the age of 49 years, embrace the proposed Sunday and limited holiday trading in Dalby. While there are concerns over increasing competition for smaller retailers who already trade on Sundays, a majority of respondents indicated it would suit their lifestyle, be convenient, provide more jobs, increase trade for smaller retailers within the area, reduce queues and congestion observed on Saturdays. The majority of those shoppers that indicated they currently did some shopping on a Sunday reported they would continue to support smaller retailers who currently trade on Sundays and some public holidays, if changes came about. Those opposed to changes to trading hours indicated a belief that existing trading hours were sufficient. Most people indicated the proposed extension of trading hours would not harm the community or have a negative, detrimental effect on themselves or their family. The main findings presented in the report are as follows: - 96.8% of respondents surveyed reported to be local, permanent residents of Dalby. - Residents of Dalby visited shopping centres and stores on average 2.8 times per week. This frequency is proportionately higher than the average Australian shopping behaviour at 2.5 times per week (Roy Morgan Supermarket Monitor). - It was determined that weekday evenings (after 5 pm) were the busiest times for shopping, with Saturday the next most popular day to shop. - 68% of respondents support the proposal of the extended trading hours at supermarkets, department stores and the shopping centre in Dalby, 26% oppose and 6% are unsure. - 90% of the respondents agreed that residents of Dalby should be allowed the same choice as other regional towns and cities in supporting/opposing changes to trading hours. The remaining 10% expressed a disagreement. - A larger percentage of males supported the proposal for Sunday and limited holiday trading. Of all the males surveyed, 80% were in support, 15% were opposed and 5% unsure. 60% of female respondents support the proposal, while 33% oppose it and 5% were unsure. - The highest percentage of support exists in fulltime workers with 90% of those respondents supporting the proposal. - In contrast, the lowest percentage of support was found in the non-working (retired/unemployed) respondents, where 67% opposed the application. - It was noted that 71% of respondents employed casually also indicated opposition against proposed changes. Further questioning identified an underlying concern from casually employed persons that Sunday trade would force them onto Sunday work rosters. - 92% of shared households expressed support for Sunday and limited public holiday trading, while 83% of both couples with children and single parent with children at home also supported the application. - 72% of the respondents often find it necessary to do some grocery shopping in Dalby on a Sunday. 76% of shoppers who indicated they already undertook some shopping on Sunday, indicated would continue to shop and support smaller retailers. - Of the respondents surveyed, 44% have travelled outside of Dalby on a Sunday to shop. This indicates that such residents find it necessary to undertake some shopping on a Sunday and in order to do so, drive an hour to Toowoomba in order to access a range of retailers. - The most cited reasons for supporting Sunday and limited public holiday trade were; ‘More choice about when I shop and that is convenient’ (69%), ‘Sunday trade will create job opportunities’ (71%), ‘Sunday trade will be helpful when preparing school lunches and getting ready for the working week’ (62%), and ‘Sunday trade will reduce shopping congestion during peak shopping periods’ (62%) - The most cited reasons for opposing the proposed changes are that ‘Sunday trade may increase competition for small retailers who already trade on Sunday’ (41%), ‘Shops are already open 6 days a week which is enough’ (31%), and ‘Sunday is a day of rest or a religious day and shopping should not be allowed’ (23%). - 97% of respondents indicated they would not change their sporting or social commitment if changes to trading hours were implemented.

Household type and structure, time-use pattern, and trip-chaining behavior

In order to examine time allocation patterns within household-level trip-chaining, simultaneous doubly-censored Tobit models are applied to model time-use behavior within the context of household activity participation. Using the entire sample and a sub-sample of worker households from Tucson's Household Travel Survey, two sets of models are developed to better understand the phenomena of trip-chaining behavior among five types of households: single non-worker households, single worker households, couple non-worker households, couple one-worker households, and couple two-worker households. Durations of out-of-home subsistence, maintenance, and discretionary activities within trip chains are examined. Factors found to be associated with trip-chaining behavior include intra-household interactions with the household types and their structure and household head attributes.

Offending Youth : Crime, Sex and Justice

Rates of female delinquency, especially for violent crimes, are increasing in most common law countries. At the same time the growth in cyber-bullying, especially among girls, appears to be a related global phenomenon. While the gender gap in delinquency is narrowing in Australia, United States, Canada and the United Kingdom, boys continue to dominate the youth who commit crime and have a virtual monopoly over sexually violent crimes. Indigenous youth continue to be vastly over-represented in the juvenile justice system in every Australian jurisdiction. The Indigenisation of delinquency is a persistent problem in other countries such as Canada and New Zealand. Young people who gather in public places are susceptible to being perceived as somehow threatening or riotous, attracting more than their share of public order policing. Professional football has been marred by repeated scandals involving sexual assault, violence and drunkenness. Given the cultural significance of footballers as role models to thousands, if not millions, of young men around the world, it is vitally important to address this problem. Offending Youth explores these key contemporary patterns of delinquency, the response to these by the juvenile justice agencies and moreover what can be done to address these problems. The book also analyses the major policy and legislative changes from the nineteenth to twenty first centuries, chiefly the shift the penal welfarism to diversion and restorative justice. Using original cases studied by Carrington twenty years ago, Offending Youth illustrates how penal welfarism criminalised young people from socially marginal backgrounds, especially Aboriginal children, children from single parent families, family-less children, state wards and young people living in poverty or in housing commission estates. A number of inquiries in Australia and the United Kingdom have since established that children committed to these institutions, supposedly for their own good, experienced systemic physical, sexual and psychological abuse during their institutionalisation. The book is dedicated to the survivors of these institutions who only now are receiving official recognition of the injustices they suffered. The underlying philosophy of juvenile justice has fundamentally shifted away from penal welfarism to embrace positive policy responses to juvenile crime, such as youth conferencing, cautions, warnings, restorative justice, circle sentencing and diversion examined in the concluding chapter. Offending Youth is aimed at a broad readership including policy makers, juvenile justice professionals, youth workers, families, teachers, politicians as well as students and academics in criminology, policing, gender studies, masculinity studies, Indigenous studies, justice studies, youth studies and the sociology of youth and deviance more generally.-- [from publisher website]

Victimization experiences of adolescents in Malaysia

Purpose There has been little community-based research regarding multiple-type victimization experiences of young people in Asia, and none in Malaysia. This study aimed to estimate prevalence, explore gender differences, as well as describe typical perpetrators and family and social risk factors among Malaysian adolescents. Methods A cross-sectional survey of 1,870 students was conducted in 20 randomly selected secondary schools in Selangor state (mean age: 16 years; 58.8% female). The questionnaire included items on individual, family, and social background and different types of victimization experiences in childhood. Results Emotional and physical types of victimization were most common. A significant proportion of adolescents (22.1%) were exposed to more than one type, with 3% reporting all four types. Compared with females, males reported more physical, emotional, and sexual victimization. The excess of sexual victimization among boys was due to higher exposure to noncontact events, whereas prevalence of forced intercourse was equal for both genders (3.0%). Although adult male perpetrators predominate, female adults and peers of both genders also contribute substantially. Low quality of parent–child relationships and poor school and neighborhood environments had the strongest associations with victimization. Family structure (parental divorce, presence of step-parent or single parent, or household size), parental drug use, and rural/urban location were not influential in this sample. Conclusion This study extends the analysis of multiple-type victimization to a Malaysian population. Although some personal, familial, and social factors correlate with those found in western nations, there are cross-cultural differences, especially with regard to the nature of sexual violence based on gender and the influence of family structure.

Family structure and change through middle childhood : the impact on children's adjustment and achievement

This research project investigated the influence of family transitions on children's adjustment and school achievement across the primary school years, in single-parent, re-partnered and two-parent families. The quality of children's relationships with parents, teachers and peers were predictive of more positive outcomes, regardless of family structure. The research analysed data from the Kindergarten Cohort participating in Growing Up in Australia: The Longitudinal Study of Australian Children. Across the age span of the children studied, cumulative effects of any residential or school changes, or decreased family income, associated with family transitions, were more likely to predict poorer child outcomes in behaviour adjustment and school achievement.

Family type and depression in pregnancy: Factors mediating risk in a community sample

The rate of severe depression among women in single-parent and biological families and in a variety of stepfamilies was examined in a large community sample of 13,088 pregnant women in the United Kingdom. Compared with women in biological families and published population rates, women in single-parent families and step-families reported significantly elevated rates of depression. Family-type differences in several risk factors were examined, including cohabiting (vs. married) status, relationship history, and socioeconomic and psychosocial risks, such as crowding, social support, and stressful life events. Family-type differences in depression were mediated partly by differences in social support, stressful life events, and crowding, but a main effect of family type in predicting depression remained after statistically controlling for these risks.

Food and Brisbane households : dietary, social and health consequences of food insecurity

Background & Aims: Access to sufficient amounts of safe and culturally-acceptable foods is a fundamental human right. Food security exists when all people, at all times, have physical, social, and economic access to sufficient, safe and nutritious food to meet their dietary needs and food preferences for an active and healthy life. Food insecurity therefore occurs when the availability or access to sufficient amounts of nutritionally-adequate, culturally-appropriate and safe foods, or, the ability to acquire such foods in socially-acceptable ways, is limited. Food insecurity may result in significant adverse effects for the individual and these outcomes may vary between adults and children. Among adults, food insecurity may be associated with overweight or obesity, poorer self-rated general health, depression, increased health-care utilisation and dietary intakes less consistent with national recommendations. Among children, food insecurity may result in poorer self or parent-reported general health, behavioural problems, lower levels of academic achievement and poor social outcomes. The majority of research investigating the potential correlates of food insecurity has been undertaken in the United States (US), where regular national screening for food insecurity is undertaken using a comprehensive multi-item measurement. In Australia, screening for food insecurity takes place on a three yearly basis via the use of a crude, single-item included in the National Health Survey (NHS). This measure has been shown to underestimate the prevalence of food insecurity by 5%. From 1995 – 2004, the prevalence of food insecurity among the Australian population remained stable at 5%. Due to the perceived low prevalence of this issue, screening for food insecurity was not undertaken in the most recent NHS. Furthermore, there are few Australian studies investigating the potential determinants of food insecurity and none investigating potential outcomes among adults and children. This study aimed to examine these issues by a) investigating the prevalence of food insecurity among households residing in disadvantaged urban areas and comparing prevalence rates estimated by the more comprehensive 18-item and 6-item United States Department of Agriculture (USDA) Food Security Survey Module (FSSM) to those estimated by the current single-item measure used for surveillance in Australia and b) investigating the potential determinants and outcomes of food insecurity, Methods: A comprehensive literature review was undertaken to investigate the potential determinants and consequences of food insecurity among developed countries. This was followed by a cross-sectional study in which 1000 households from the most disadvantaged 5% of Brisbane areas were sampled and data collected via mail-based survey (final response rate = 53%, n = 505). Data were collected for food security status, sociodemographic characteristics (household income, education, age, gender, employment status, housing tenure and living arrangements), fruit and vegetable intakes, meat and take-away consumption, presence of depressive symptoms, presence of chronic disease and body mass index (BMI) among adults. Among children, data pertaining to BMI, parent-reported general health, days away from school and activities and behavioural problems were collected. Rasch analysis was used to investigate the psychometric properties of the 18-, 10- and 6-item adaptations of the USDA-FSSM, and McNemar's test was used to investigate the difference in the prevalence of food insecurity as measured by these three adaptations compared to the current single-item measure used in Australia. Chi square and logistic regression were used to investigate the differences in dietary and health outcomes among adults and health and behavioural outcomes among children. Results were adjusted for equivalised household income and, where necessary, for indigenous status, education and family type. Results: Overall, 25% of households in these urbanised-disadvantaged areas reported experiencing food insecurity; this increased to 34% when only households with children were analysed. The current reliance on a single-item measure to screen for food insecurity may underestimate the true burden among the Australian population, as this measure was shown to significantly underestimate the prevalence of food insecurity by five percentage points. Internationally, major potential determinants of food insecurity included poverty and indicators of poverty, such as low-income, unemployment and lower levels of education. Ethnicity, age, transportation and cooking and financial skills were also found to be potential determinants of food insecurity. Among Australian adults in disadvantaged urban areas, food insecurity was associated with a three-fold increase in experiencing poorer self-rated general health and a two-to-five-fold increase in the risk of depression. Furthermore, adults from food insecure households were twoto- three times more likely to have seen a general practitioner and/or been admitted to hospital within the previous six months, compared to their food secure counterparts. Weight status and intakes of fruits, vegetables and meat were not associated with food insecurity. Among Australian households with children, those in the lowest tertile were over 16 times more likely to experience food insecurity compared to those in the highest tertile for income. After adjustment for equivalised household income, children from food insecure households were three times more likely to have missed days away from school or other activities. Furthermore, children from food insecure households displayed a two-fold increase in atypical emotions and behavioural difficulties. Conclusions: Food insecurity is an important public health issue and may contribute to the burden on the health care system through its associations with depression and increased health care utilisation among adults and behavioural and emotional problems among children. Current efforts to monitor food insecurity in Australia do not occur frequently and use a tool that may underestimate the prevalence of food insecurity. Efforts should be made to improve the regularity of screening for food insecurity via the use of a more accurate screening measure. Most of the current strategies that aim to alleviate food insecurity do not sufficiently address the issue of insufficient financial resources for acquiring food; a factor which is an important determinant of food insecurity. Programs to address this issue should be developed in collaboration with groups at higher risk of developing food insecurity and should incorporate strategies to address the issue of low income as a barrier to food acquisition.

Identifying parent perspectives to guide active travel intervention with small populations : case study in Denver, Colorado

This paper investigates a strategy for guiding school-based active travel intervention. School-based active travel programs address the travel behaviors and perceptions of small target populations (i.e., at individual schools) so they can encourage people to walk or bike. Thus, planners need to know as much as possible about the behaviors and perceptions of their target populations. However, existing strategies for modeling travel behavior and segmenting audiences typically work with larger populations and may not capture the attitudinal diversity of smaller groups. This case study used Q technique to identify salient travel-related attitude types among parents at an elementary school in Denver, Colorado; 161 parents presented their perspectives about school travel by rank-ordering 36 statements from strongly disagree to strongly agree in a normalized distribution, single centered around no opinion. Thirty-nine respondents' cases were selected for case-wise cluster analysis in SPSS according to criteria that made them most likely to walk: proximity to school, grade, and bus service. Analysis revealed five core perspectives that were then correlated with the larger respondent pool: optimistic walkers, fair-weather walkers, drivers of necessity, determined drivers, and fence sitters. Core perspectives are presented—characterized by parents' opinions, personal characteristics, and reported travel behaviors—and recommendations are made for possible intervention approaches. The study concludes that Q technique provides a fine-grained assessment of travel behavior for small populations, which would benefit small-scale behavioral interventions

A parent-led family-focused treatment program for overweight children aged 5 to 9 years : The PEACH RCT

OBJECTIVE: To evaluate a healthy lifestyle intervention to reduce adiposity in children aged 5 to 9 years and assess whether adding parenting skills training would enhance this effect. PARTICIPANTS AND METHODS: We conducted a single-blinded randomized controlled trial of prepubertal moderately obese (International Obesity Task Force cut points) children, aged 5 to 9 years. The 6-month program targeted parents as the agents of change for implementing family lifestyle changes. Only parents attended group sessions. We measured BMI and waist z scores and parenting constructs at baseline, 6, 12, 18, 24 months. RESULTS: Participants (n = 169; 56% girls) were randomized to a parenting skills plus healthy lifestyle group (n = 85) or a healthy lifestyle–only group (n = 84). At final 24-month assessment 52 and 54 children remained in the parenting skills plus healthy lifestyle and the healthy lifestyle–only groups respectively. There were reductions (P < .001) in BMI z score (0.26 [95% confidence interval: 0.22–0.30]) and waist z score (0.33 [95% confidence interval: 0.26–0.40]). There was a 10% reduction in z scores from baseline to 6 months that was maintained to 24 months with no additional intervention. Overall, there was no significant group effect. A similar pattern of initial improvement followed by stability was observed for parenting outcomes and no group effect. CONCLUSIONS: Using approaches that specifically target parent behavior, relative weight loss of ∼10% is achievable in moderately obese prepubertal children and can be maintained for 2 years from baseline. These results justify an investment in treatment as an effective secondary obesity-prevention strategy.

Water end use consumption analysis study into Gold Coast dual reticulated households : pilot study

Australia is the driest inhabited continent in the world and persisting droughts have triggered a move toward sensible and sustainable water consumption. Understanding how and where water is consumed in households enables streamlined development of demand management programs and efficient engineering of water infrastructure. End use water consumption analysis is required to gain necessary empirical data of how and where water is consumed. Several end use water consumption studies have been conducted within Australia and around the world with varying results produced. This pilot study paper provides preliminary data from the Gold Coast Watersaver End Use Project which is currently underway. Specifically, the paper includes water end use category volumetric and percentage break downs for 18 single and 32 dual reticulated homes on the Gold Coast (i.e. 50 in total). Moreover, a comparitive analysis between each of the individual households water end use levels is discussed along with other national studies previously completed. The paper finishes with an overview of the greater 200 home end use study conducted on the Gold Coast and its key deliverables and research outcomes.

The association of single nucleotide polymorphisms with endometrial cancer risk and prognosis

Endometrial cancer is one of the most common female diseases in developed nations and is the most commonly diagnosed gynaecological cancer in Australia. The disease is commonly classified by histology: endometrioid or non-endometrioid endometrial cancer. While non-endometrioid endometrial cancers are accepted to be high-grade, aggressive cancers, endometrioid cancers (comprising 80% of all endometrial cancers diagnosed) generally carry a favourable patient prognosis. However, endometrioid endometrial cancer patients endure significant morbidity due to surgery and radiotherapy used for disease treatment, and patients with recurrent disease have a 5-year survival rate of less than 50%. Genetic analysis of women with endometrial cancer could uncover novel markers associated with disease risk and/or prognosis, which could then be used to identify women at high risk and for the use of specialised treatments. Proteases are widely accepted to play an important role in the development and progression of cancer. This PhD project hypothesised that SNPs from two protease gene families, the matrix metalloproteases (MMPs, including their tissue inhibitors, TIMPs) and the tissue kallikrein-related peptidases (KLKs) would be associated with endometrial cancer susceptibility and/or prognosis. In the first part of this study, optimisation of the genotyping techniques was performed. Results from previously published endometrial cancer genetic association studies were attempted to be validated in a large, multicentre replication set (maximum cases n = 2,888, controls n = 4,483, 3 studies). The rs11224561 progesterone receptor SNP (PGR, A/G) was observed to be associated with increased endometrial cancer risk (per A allele OR 1.31, 95% CI 1.12-1.53; p-trend = 0.001), a result which was initially reported among a Chinese sample set. Previously reported associations for the remaining 8 SNPs investigated for this section of the PhD study were not confirmed, thereby reinforcing the importance of validation of genetic association studies. To examine the effect of SNPs from the MMP and KLK families on endometrial cancer risk, we selected the most significantly associated MMP and KLK SNPs from genome-wide association study analysis (GWAS) to be genotyped in the GWAS replication set (cases n = 4,725, controls n = 9,803, 13 studies). The significance of the MMP24 rs932562 SNP was unchanged after incorporation of the stage 2 samples (Stage 1 per allele OR 1.18, p = 0.002; Combined Stage 1 and 2 OR 1.09, p = 0.002). The rs10426 SNP, located 3' to KLK10 was predicted by bioinformatic analysis to effect miRNA binding. This SNP was observed in the GWAS stage 1 result to exhibit a recessive effect on endometrial cancer risk, a result which was not validated in the stage 2 sample set (Stage 1 OR 1.44, p = 0.007; Combined Stage 1 and 2 OR 1.14, p = 0.08). Investigation of the regions imputed surrounding the MMP, TIMP and KLK genes did not reveal any significant targets for further analysis. Analysis of the case data from the endometrial cancer GWAS to identify genetic variation associated with cancer grade did not reveal SNPs from the MMP, TIMP or KLK genes to be statistically significant. However, the representation of SNPs from the MMP, TIMP and KLK families by the GWAS genotyping platform used in this PhD project was examined and observed to be very low, with the genetic variation of four genes (MMP23A, MMP23B, MMP28 and TIMP1) not captured at all by this technique. This suggests that comprehensive candidate gene association studies will be required to assess the role of SNPs from these genes with endometrial cancer risk and prognosis. Meta-analysis of gene expression microarray datasets curated as part of this PhD study identified a number of MMP, TIMP and KLK genes to display differential expression by endometrial cancer status (MMP2, MMP10, MMP11, MMP13, MMP19, MMP25 and KLK1) and histology (MMP2, MMP11, MMP12, MMP26, MMP28, TIMP2, TIMP3, KLK6, KLK7, KLK11 and KLK12). In light of these findings these genes should be prioritised for future targeted genetic association studies. Two SNPs located 43.5 Mb apart on chromosome 15 were observed from the GWAS analysis to be associated with increased endometrial cancer grade, results that were validated in silico in two independent datasets. One of these SNPs, rs8035725 is located in the 5' untranslated region of a MYC promoter binding protein DENND4A (Stage 1 OR 1.15, p = 9.85 x 10P -5 P, combined Stage 1 and in silico validation OR 1.13, p = 5.24 x 10P -6 P). This SNP has previously been reported to alter the expression of PTPLAD1, a gene involved in the synthesis of very long fatty acid chains and in the Rac1 signaling pathway. Meta-analysis of gene expression microarray data found PTPLAD1 to display increased expression in the aggressive non-endometrioid histology compared with endometrioid endometrial cancer, suggesting that the causal SNP underlying the observed genetic association may influence expression of this gene. Neither rs8035725 nor significant SNPs identified by imputation were predicted bioinformatically to affect transcription factor binding sites, indicating that further studies are required to assess their potential effect on other regulatory elements. The other grade- associated SNP, rs6606792, is located upstream of an inferred pseudogene, ELMO2P1 (Stage 1 OR 1.12, p = 5 x 10P -5 P; combined Stage 1 and in silico validation OR 1.09, p = 3.56 x 10P -5 P). Imputation of the ±1 Mb region surrounding this SNP revealed a cluster of significantly associated variants which are predicted to abolish various transcription factor binding sites, and would be expected to decrease gene expression. ELMO2P1 was not included on the microarray platforms collected for this PhD, and so its expression could not be investigated. However, the high sequence homology of ELMO2P1 with ELMO2, a gene important to cell motility, indicates that ELMO2 could be the parent gene for ELMO2P1 and as such, ELMO2P1 could function to regulate the expression of ELMO2. Increased expression of ELMO2 was seen to be associated with increasing endometrial cancer grade, as well as with aggressive endometrial cancer histological subtypes by microarray meta-analysis. Thus, it is hypothesised that SNPs in linkage disequilibrium with rs6606792 decrease the transcription of ELMO2P1, reducing the regulatory effect of ELMO2P1 on ELMO2 expression. Consequently, ELMO2 expression is increased, cell motility is enhanced leading to an aggressive endometrial cancer phenotype. In summary, these findings have identified several areas of research for further study. The results presented in this thesis provide evidence that a SNP in PGR is associated with risk of developing endometrial cancer. This PhD study also reports two independent loci on chromosome 15 to be associated with increased endometrial cancer grade, and furthermore, genes associated with these SNPs to be differentially expressed according in aggressive subtypes and/or by grade. The studies reported in this thesis support the need for comprehensive SNP association studies on prioritised MMP, TIMP and KLK genes in large sample sets. Until these studies are performed, the role of MMP, TIMP and KLK genetic variation remains unclear. Overall, this PhD study has contributed to the understanding of genetic variation involvement in endometrial cancer susceptibility and prognosis. Importantly, the genetic regions highlighted in this study could lead to the identification of novel gene targets to better understand the biology of endometrial cancer and also aid in the development of therapeutics directed at treating this disease.

Facile mutant identification via a single parental backcross method and application of whole genome sequencing based mapping pipelines

Forward genetic screens have identified numerous genes involved in development and metabolism, and remain a cornerstone of biological research. However, to locate a causal mutation, the practice of crossing to a polymorphic background to generate a mapping population can be problematic if the mutant phenotype is difficult to recognize in the hybrid F2 progeny, or dependent on parental specific traits. Here in a screen for leaf hyponasty mutants, we have performed a single backcross of an Ethane Methyl Sulphonate (EMS) generated hyponastic mutant to its parent. Whole genome deep sequencing of a bulked homozygous F2 population and analysis via the Next Generation EMS mutation mapping pipeline (NGM) unambiguously determined the causal mutation to be a single nucleotide polymorphisim (SNP) residing in HASTY, a previously characterized gene involved in microRNA biogenesis. We have evaluated the feasibility of this backcross approach using three additional SNP mapping pipelines; SHOREmap, the GATK pipeline, and the samtools pipeline. Although there was variance in the identification of EMS SNPs, all returned the same outcome in clearly identifying the causal mutation in HASTY. The simplicity of performing a single parental backcross and genome sequencing a small pool of segregating mutants has great promise for identifying mutations that may be difficult to map using conventional approaches.