The correlation between reading and mathematics ability at age twelve has a substantial genetic component

Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy. Here we show, using twin and genome-wide analysis, that there is a substantial genetic component to children’s ability in reading and mathematics, and estimate that around one half of the observed correlation in these traits is due to shared genetic effects (so-called Generalist Genes). Thus, our results highlight the potential role of the learning environment in contributing to differences in a child’s cognitive abilities at age twelve.

Conceptualising recognition of prior learning processes in the age of open learning

This chapter interrogates what recognition of prior learning (RPL) can and does mean in the higher education sector—a sector in the grip of the widening participation agenda and an open access age. The chapter discusses how open learning is making inroads into recognition processes and examines two studies in open learning recognition. A case study relating to e-portfolio-style RPL for entry into a Graduate Certificate in Policy and Governance at a metropolitan university in Queensland is described. In the first instance, candidates who do not possess a relevant Bachelor degree need to demonstrate skills in governmental policy work in order to be eligible to gain entry to a Graduate Certificate (at Australian Qualifications Framework Level 8) (Australian Qualifications Framework Council, 2013, p. 53). The chapter acknowledges the benefits and limitations of recognition in open learning and those of more traditional RPL, anticipating future developments in both (or their convergence).

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

The major histocompatibility complex (MHC) on chromosome 6 is associated with susceptibility to more common diseases than any other region of the human genome, including almost all disorders classified as autoimmune. In type 1 diabetes the major genetic susceptibility determinants have been mapped to the MHC class II genes HLA-DQB1 and HLA-DRB1 (refs 1–3), but these genes cannot completely explain the association between type 1 diabetes and the MHC region4, 5, 6, 7, 8, 9, 10, 11. Owing to the region's extreme gene density, the multiplicity of disease-associated alleles, strong associations between alleles, limited genotyping capability, and inadequate statistical approaches and sample sizes, which, and how many, loci within the MHC determine susceptibility remains unclear. Here, in several large type 1 diabetes data sets, we analyse a combined total of 1,729 polymorphisms, and apply statistical methods—recursive partitioning and regression...

Pedestrian self-reported exposure to distraction by smart phones while walking and crossing the road

Pedestrian crashes account for approximately 14% of road fatalities in Australia. Crossing the road, while a minor part of total walking, presents the highest crash risk because of potential interaction with motor vehicles. Crash risk is elevated by pedestrian illegal use of the road, which may be widespread (e.g. 20% of crossings at signalised intersections at a sample of sites, Brisbane) and enforcement is rare. Effective road crossing requires integration of multiple skills and judgements, any of which can be hindered by distraction. Observational studies suggest that pedestrians are increasingly likely to ‘multitask’, using mobile technology for entertainment and communication, elevating the risk of distraction while crossing. To investigate this, intercept interviews were conducted with a convenience sample of 211 pedestrians aged 18-65 years in Brisbane CBD. Self-reported frequency of using a smart phone for activities at two levels of distraction: cognitive only (voice calls); or cognitive and visual (text messages, internet access) while walking or crossing the road was collected. Results indicated that smart phone use for potentially distracting activities while walking and while crossing the road was high, especially among 18-30 year olds, who were significantly more likely than 31-44yo or 45-65yo to report smart phone use while crossing the road. For 18-30yo and the higher risk activity of crossing the road, 32% texted at high frequency levels and 27% used internet at high frequency levels. Risky levels of distracted crossing appear to be a growing safety issue for 18-30yo, with greater attention to appropriate interventions needed.

International survey of bicycling exposure, crash involvement, behaviors, and attitudes: Preliminary results

This paper presents some results from preliminary analyses of the data of an international online survey of bicycle riders, who reported riding at least once a month. On 4 July 2015, data from 7528 participants from 17 countries was available in the survey, and were subsequently cleaned and checked for consistency. The median distance ridden ranged from 30 km/week in Israel to 150 km/week in Greece (overall median 54 km/week). City/hybrid bicycles were the most common type of bicycle ridden (44%), followed by mountain (20%) and road bikes (15%). Almost half (47%) of the respondents rode “nearly daily”. About a quarter rode daily to work or study (27%). Overall, 40% of respondents reported wearing a helmet ‘always’, varying from 2% in the Netherlands to 80% in Norway, while 25% reported ‘never’ wearing a helmet. Thus, individuals appeared to consistently either use or not use helmets. Helmet wearing rates were generally higher when riding for health/fitness than other purposes and appeared to be little affected by the type of riding location, but some divergences in these patterns were found among countries. Almost 29% of respondents reported being involved in at least one bicycle crash in the last year (ranging from 12% in Israel to 53% in Turkey). Among the most severe crashes for each respondent, about half of the crashes involved falling off a bicycle. Just under 10% of the most severe crashes for each respondent were reported to police. Among the bicycle-motor vehicle crashes, only a third were reported to police. Further analyses will address questions regarding the influence of factors such as demographic characteristics, type of bicycle ridden, and attitudes on both bi-cycle use and helmet wearing rates.

Roundabout design guidelines and cycling safety

Review conducted as part of a Queensland Department of Transport and Main Roads funded project ‘Roundabout design review’. The project examined: - Design guidelines - Factors that affect safety at roundabouts

New genetic loci link adipose and insulin biology to body fat distribution

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10−8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Genetic studies of body mass index yield new insights for obesity biology

Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10−8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ~2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

Androgenetic alopecia: Identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology

The pathogenesis of androgenetic alopecia (AGA, male-pattern baldness) is driven by androgens, and genetic predisposition is the major prerequisite. Candidate gene and genome-wide association studies have reported that single-nucleotide polymorphisms (SNPs) at eight different genomic loci are associated with AGA development. However, a significant fraction of the overall heritable risk still awaits identification. Furthermore, the understanding of the pathophysiology of AGA is incomplete, and each newly associated locus may provide novel insights into contributing biological pathways. The aim of this study was to identify unknown AGA risk loci by replicating SNPs at the 12 genomic loci that showed suggestive association (5 x 10(-8)

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases

Androgenetic alopecia (AGA) is a highly heritable condition and the most common form of hair loss in humans. Susceptibility loci have been described on the X chromosome and chromosome 20, but these loci explain a minority of its heritable variance. We conducted a large-scale meta-analysis of seven genome-wide association studies for early-onset AGA in 12,806 individuals of European ancestry. While replicating the two AGA loci on the X chromosome and chromosome 20, six novel susceptibility loci reached genome-wide significance (p = 2.62x10(-)(9)-1.01x10(-)(1)(2)). Unexpectedly, we identified a risk allele at 17q21.31 that was recently associated with Parkinson's disease (PD) at a genome-wide significant level. We then tested the association between early-onset AGA and the risk of PD in a cross-sectional analysis of 568 PD cases and 7,664 controls. Early-onset AGA cases had significantly increased odds of subsequent PD (OR = 1.28, 95% confidence interval: 1.06-1.55, p = 8.9x10(-)(3)). Further, the AGA susceptibility alleles at the 17q21.31 locus are on the H1 haplotype, which is under negative selection in Europeans and has been linked to decreased fertility. Combining the risk alleles of six novel and two established susceptibility loci, we created a genotype risk score and tested its association with AGA in an additional sample. Individuals in the highest risk quartile of a genotype score had an approximately six-fold increased risk of early-onset AGA [odds ratio (OR) = 5.78, p = 1.4x10(-)(8)(8)]. Our results highlight unexpected associations between early-onset AGA, Parkinson's disease, and decreased fertility, providing important insights into the pathophysiology of these conditions.

A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications

BACKGROUND Given moderately strong genetic contributions to variation in alcoholism and heaviness of drinking (50% to 60% heritability) with high correlation of genetic influences, we have conducted a quantitative trait genome-wide association study (GWAS) for phenotypes related to alcohol use and dependence. METHODS Diagnostic interview and blood/buccal samples were obtained from sibships ascertained through the Australian Twin Registry. Genome-wide single nucleotide polymorphism (SNP) genotyping was performed with 8754 individuals (2062 alcohol-dependent cases) selected for informativeness for alcohol use disorder and associated quantitative traits. Family-based association tests were performed for alcohol dependence, dependence factor score, and heaviness of drinking factor score, with confirmatory case-population control comparisons using an unassessed population control series of 3393 Australians with genome-wide SNP data. RESULTS No findings reached genome-wide significance (p = 8.4 x 10(-8) for this study), with lowest p value for primary phenotypes of 1.2 x 10(-7). Convergent findings for quantitative consumption and diagnostic and quantitative dependence measures suggest possible roles for a transmembrane protein gene (TMEM108) and for ANKS1A. The major finding, however, was small effect sizes estimated for individual SNPs, suggesting that hundreds of genetic variants make modest contributions (1/4% of variance or less) to alcohol dependence risk. CONCLUSIONS We conclude that: - 1) meta-analyses of consumption data may contribute usefully to gene discovery; - 2) translation of human alcoholism GWAS results to drug discovery or clinically useful prediction of risk will be challenging, and; - 3) through accumulation across studies, GWAS data may become valuable for improved genetic risk differentiation in research in biological psychiatry (e.g., prospective high-risk or resilience studies).

Drivers' ability to absorb information from co-located signs along motorways

The paper presents initial findings from an Austroads funded project NT1782 Ability to Absorb Information through Electronic and Static Signs. The paper aims to investigate how easily messages displayed on co-located signs can be absorbed, and if drivers can absorb messages and take appropriate action without any adverse impact on the safety and efficiency of driving. Co-location of three types of signs under motorway conditions was investigated: direction signs (DS), variable message signs (VMS) and variable speed limits/lane control signs (VSL/LCS). The authors reviewed global wide practices and research evidence on different types of sign co-locations. It was found that dual co-location of VSL/LCS, VMS and/or DS is a practical arrangement which has been widely practised overseas and in Australia. Triple co-location of VSL/LCS, VMS and DS is also practised overseas but is still new to the Australian driving community. The NT1782 project also employed an advanced driving simulator (ADS) to further investigate the possible impacts of sign co-location on drivers’ responses in an emergency situation and there were no obviously adverse impacts have been identified from the ADS study. The authors consolidated all findings and concluded that although there is no clear evidence showing that triple co-location gives rise to riskier behaviour, this proposition should be viewed with caution. Further evaluation of triple co-location in a real-life setting is called for.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10−9 to P = 1.8 × 10−40) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10−3 to P = 1.2 × 10−13). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.

Zygosity diagnosis in the absence of genotypic data: An approach using latent class analysis

For zygosity diagnosis in the absence of genotypic data, or in the recruitment phase of a twin study where only single twins from same-sex pairs are being screened, or to provide a test for sample duplication leading to the false identification of a dizygotic pair as monozygotic, the appropriate analysis of respondents' answers to questions about zygosity is critical. Using data from a young adult Australian twin cohort (N = 2094 complete pairs and 519 singleton twins from same-sex pairs with complete responses to all zygosity items), we show that application of latent class analysis (LCA), fitting a 2-class model, yields results that show good concordance with traditional methods of zygosity diagnosis, but with certain important advantages. These include the ability, in many cases, to assign zygosity with specified probability on the basis of responses of a single informant (advantageous when one zygosity type is being oversampled); and the ability to quantify the probability of misassignment of zygosity, allowing prioritization of cases for genotyping as well as identification of cases of probable laboratory error. Out of 242 twins (from 121 like-sex pairs) where genotypic data were available for zygosity confirmation, only a single case was identified of incorrect zygosity assignment by the latent class algorithm. Zygosity assignment for that single case was identified by the LCA as uncertain (probability of being a monozygotic twin only 76%), and the co-twin's responses clearly identified the pair as dizygotic (probability of being dizygotic 100%). In the absence of genotypic data, or as a safeguard against sample duplication, application of LCA for zygosity assignment or confirmation is strongly recommended.