No major schizophrenia locus detected on chromosome 1q in a large multicenter sample

Reports of substantial evidence for genetic linkage of schizophrenia to chromosome 1q were evaluated by genotyping 16 DNA markers across 107 centimorgans of this chromosome in a multicenter sample of 779 informative schizophrenia pedigrees. No significant evidence was observed for such linkage, nor for heterogeneity in allele sharing among the eight individual samples. Separate analyses of European-origin families, recessive models of inheritance, and families with larger numbers of affected cases also failed to produce significant evidence for linkage. If schizophrenia susceptibility genes are present on chromosome 1q, their population-wide genetic effects are likely to be small.

CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

Large and rare copy number variants (CNVs) at several loci have been shown to increase risk for schizophrenia. Aiming to discover novel susceptibility CNV loci, we analysed 6,882 cases and 11,255 controls genotyped on Illumina arrays, most of which have not been used for this purpose before. We identified genes enriched for rare exonic CNVs among cases, and then attempted to replicate the findings in an additional 14,568 cases and 15,274 controls. In a combined analysis of all samples, 12 distinct loci were enriched among cases with nominal levels of significance (P500kb), rare CNVs showed a 1.2% excess in cases after excluding known schizophrenia-associated loci, suggesting that additional susceptibility loci exist. However, even larger samples are required for their discovery.

Burden of Cancer in a Large Consortium of Prospective Cohorts in Europe

BACKGROUND: Disability-adjusted life-years (DALYs) are an indicator of mortality, morbidity, and disability. We calculated DALYs for cancer in middle-aged and older adults participating in the Consortium on Health and Ageing Network of Cohorts in Europe and the United States (CHANCES) consortium.

METHODS: A total of 90 199 participants from five European cohorts with 10 455 incident cancers and 4399 deaths were included in this study. DALYs were calculated as the sum of the years of life lost because of premature mortality (YLLs) and the years lost because of disability (YLDs). Population-attributable fractions (PAFs) were also estimated for five cancer risk factors, ie, smoking, adiposity, physical inactivity, alcohol intake, and type II diabetes.

RESULTS: After a median follow-up of 12 years, the total number of DALYs lost from cancer was 34 474 (382 per 1000 individuals) with a similar distribution by sex. Lung cancer was responsible for the largest number of lost DALYs (22.9%), followed by colorectal (15.3%), prostate (10.2%), and breast cancer (8.7%). Mortality (81.6% of DALYs) predominated over disability. Ever cigarette smoking was the risk factor responsible for the greatest total cancer burden (24.0%, 95% confidence interval [CI] = 22.2% to 26.0%), followed by physical inactivity (4.9%, 95% CI = 0.8% to 8.1%) and adiposity (1.8%, 95% CI = 0.2% to 2.8%).

CONCLUSIONS: DALYs lost from cancer were substantial in this large European sample of middle-aged and older adults. Even if the burden of disease because of cancer is predominantly caused by mortality, some cancers have sizeable consequences for disability. Smoking remained the predominant risk factor for total cancer burden.

Technological regimes, Schumpeterian patterns of innovation and firm-level productivity growth

The article investigates the relationships between technological regimes and firm-level productivity performance, and it explores how such a relationship differs in different Schumpeterian patterns of innovation. The analysis makes use of a rich dataset containing data on innovation and other economic characteristics of a large representative sample of Norwegian firms in manufacturing and service industries for the period 1998–2004. First, we decompose TFP growth into technical progress and efficiency changes by means of data envelopment analysis. We then estimate an empirical model that relates these two productivity components to the characteristics of technological regimes and a set of other firm-specific factors. The results indicate that: (i) TFP growth has mainly been achieved through technical progress, while technical efficiency has on average decreased; (ii) the characteristics of technological regimes are important determinants of firm-level productivity growth, but their impacts on technical progress are different from the effects on efficiency change; (iii) the estimated model works differently in the two Schumpeterian regimes. Technical progress has been more dynamic in Schumpeter Mark II industries, while efficiency change has been more important in Schumpeter Mark I markets.

Folkbiology doesn’t come from Folkpsychology: evidence from Yukatek Maya in cross-cultural perspective

Nearly all psychological research on basic cognitive processes of category formation and reasoning uses sample populations associated with large research institutions in technologically-advanced societies. Lopsided attention to a select participant pool risks biasing interpretation, no matter how large the sample or how statistically reliable the results. The experiments in this article address this limitation. Earlier research with urban-USA children suggests that biological concepts are (1) thoroughly enmeshed with their notions of naive psychology, and (2) strikingly human-centered. Thus, if children are to develop a causally appropriate model of biology, in which humans are seen as simply one animal among many, they must undergo fundamental conceptual change. Such change supposedly occurs between 7 and 10 years of age, when the human-centered view is discarded. The experiments reported here with Yukatek Maya speakers challenge the empirical generality and theoretical importance of these claims. Part 1 shows that young Maya children do not anthropocentrically interpret the biological world. The anthropocentric bias of American children appears to owe to a lack of cultural familiarity with non-human biological kinds, not to initial causal understanding of folkbiology as such. Part 2 shows that by age of 4-5 (the earliest age tested in this regard) Yukatek Maya children employ a concept of innate species potential or underlying essence much as urban American children seem to, namely, as an inferential framework for understanding the affiliation of an organism to a biological species, and for projecting known and unknown biological properties to organisms in the face of uncertainty. Together, these experiments indicate that folkpsychology cannot be the initial source of folkbiology. They also underscore the possibility of a species-wide and domain-specific basis for acquiring knowledge about the living world that is constrained and modified but not caused or created by prior nonbiological thinking and subsequent cultural experience.

Present orientation, future orientation and alcohol use in Northern Irish adolescents

Earlier initiation into more problematic drinking behaviour has been found to be associated with more problematic drinking later in life. Research has suggested that a lower future time perspective (and higher present time perspective) is associated with health-compromising behaviours such as problematic alcohol use in college student, University undergraduate and general population samples. This study used a cross-sectional design to examine whether consideration of future consequences (CFC), assessed by the Consideration of Future Consequences Scale, was significantly related to drinking behaviour in a large sample (n=707) of Northern Irish adolescents. Alcohol use was self-reported by means of a composite measure of drinking behaviour. Demographic data were also gathered. After controlling for year in school (proxy for age), sex and for clustering at school level, lower future orientation and higher present orientation were found to be significantly associated with more problematic self-reported drinking behaviour. These results extend recent findings of a significant relationship between a foreshortened future time perspective and more problematic self-reported drinking behaviour in a UK sample of University undergraduates, to a large UK sample of adolescents. Given the relationship between early-onset drinking and more problematic use in later life, health promotion interventions might explore using the CFC construct in targeting adolescent drinkers.

Analysis of Bayesian classification-based approaches for Android malware detection

Mobile malware has been growing in scale and complexity spurred by the unabated uptake of smartphones worldwide. Android is fast becoming the most popular mobile platform resulting in sharp increase in malware targeting the platform. Additionally, Android malware is evolving rapidly to evade detection by traditional signature-based scanning. Despite current detection measures in place, timely discovery of new malware is still a critical issue. This calls for novel approaches to mitigate the growing threat of zero-day Android malware. Hence, the authors develop and analyse proactive machine-learning approaches based on Bayesian classification aimed at uncovering unknown Android malware via static analysis. The study, which is based on a large malware sample set of majority of the existing families, demonstrates detection capabilities with high accuracy. Empirical results and comparative analysis are presented offering useful insight towards development of effective static-analytic Bayesian classification-based solutions for detecting unknown Android malware.

Automated image analysis for experimental investigations of salt water intrusion in coastal aquifers

A novel methodology has been developed to quantify important saltwater intrusion parameters in a sandbox style experiment using image analysis. Existing methods found in the literature are based mainly on visual observations, which are subjective, labour intensive and limits the temporal and spatial resolutions that can be analysed. A robust error analysis was undertaken to determine the optimum methodology to convert image light intensity to concentration. Results showed that defining a relationship on a pixel-wise basis provided the most accurate image to concentration conversion and allowed quantification of the width of mixing zone between the saltwater and freshwater. A large image sample rate was used to investigate the transient dynamics of saltwater intrusion, which rendered analysis by visual observation unsuitable. This paper presents the methodologies developed to minimise human input and promote autonomy, provide high resolution image to concentration conversion and allow the quantification of intrusion parameters under transient conditions.

Leveraging Stratification in Twitter Sampling

With Tweet volumes reaching 500 million a day, sampling is inevitable for any application using Twitter data. Realizing this, data providers such as Twitter, Gnip and Boardreader license sampled data streams priced in accordance with the sample size. Big Data applications working with sampled data would be interested in working with a large enough sample that is representative of the universal dataset. Previous work focusing on the representativeness issue has considered ensuring the global occurrence rates of key terms, be reliably estimated from the sample. Present technology allows sample size estimation in accordance with probabilistic bounds on occurrence rates for the case of uniform random sampling. In this paper, we consider the problem of further improving sample size estimates by leveraging stratification in Twitter data. We analyze our estimates through an extensive study using simulations and real-world data, establishing the superiority of our method over uniform random sampling. Our work provides the technical know-how for data providers to expand their portfolio to include stratified sampled datasets, whereas applications are benefited by being able to monitor more topics/events at the same data and computing cost.

Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms

A genomewide linkage scan was carried out in eight clinical samples of informative schizophrenia families. After all quality control checks, the analysis of 707 European-ancestry families included 1615 affected and 1602 unaffected genotyped individuals, and the analysis of all 807 families included 1900 affected and 1839 unaffected individuals. Multipoint linkage analysis with correction for marker-marker linkage disequilibrium was carried out with 5861 single nucleotide polymorphisms (SNPs; Illumina version 4.0 linkage map). Suggestive evidence for linkage ( European families) was observed on chromosomes 8p21, 8q24.1, 9q34 and 12q24.1 in nonparametric and/or parametric analyses. In a logistic regression allele-sharing analysis of linkage allowing for intersite heterogeneity, genomewide significant evidence for linkage was observed on chromosome 10p12. Significant heterogeneity was also observed on chromosome 22q11.1. Evidence for linkage across family sets and analyses was most consistent on chromosome 8p21, with a one-LOD support interval that does not include the candidate gene NRG1, suggesting that one or more other susceptibility loci might exist in the region. In this era of genomewide association and deep resequencing studies, consensus linkage regions deserve continued attention, given that linkage signals can be produced by many types of genomic variation, including any combination of multiple common or rare SNPs or copy number variants in a region. Molecular Psychiatry (2009) 14, 786-795; doi:10.1038/mp.2009.11; published online 17 February 2009

The reliability and factorial validity of the Adolescent Alcohol Involvement Scale in a large sample in the United Kingdom

The assessment of adolescent drinking behavior is a complex task, complicated by variability in drinking patterns, the transitory and developmental nature of the behavior and the reliance (for large scale studies) on self-report questionnaires. The Adolescent Alcohol Involvement Scale (Mayer & Filstead, 1979) is a 14-item screening tool designed to help to identify alcohol misusers or more problematic drinkers. The present study utilized a large sample (n = 4066) adolescents from Northern Ireland. Results of Confirmatory Factor Analyses and reliability estimates revealed that the 14-items share sufficient common variance that scores can be considered to be reliable and that the 14 items can be scored to provide a composite alcohol use score.

Early-type stars in the Galactic halo from the Palomar-Green survey - III. Completion of a magnitude range limited sample

High-resolution (R approximate to 40 000) echelle spectroscopic observations of 13 high-latitude early-type stars are presented. These stars comprise the final part of a complete magnitude range limited sample based on low-resolution spectroscopy of targets drawn from the Palomar-Green survey. The magnitude range under consideration is 13 less than or equal to B-PG less than or equal to 14.6, corresponding to an approximate distance limit for main-sequence B-type objects of 5 less than or equal to d less than or equal to 40 kpc. Three stars are found to be apparently normal, young stars, based on their positions on the (T-eff, log g) diagram, normal abundance patterns and relatively large projected rotational velocities. A further star, PG 1209+263, was found to belong to the chemically peculiar (CP) silicon star class of objects. The remainder are evolved subluminous stars lying on post- horizontal branch (post-HB) tracks, with the exception of PG 2120+062, which appears to be in a post-asymptotic giant branch evolutionary stage. For the young stars in the sample, we have derived distance and age estimates through comparison of the atmospheric parameters with recent theoretical evolutionary models. We discuss formation scenarios by comparing times-of- flight and evolutionary time-scales. It is found that all stars could have formed in the Galactic disc and been ejected from there soon after their birth, with the exception of PG 1209+263. The adopted proper motion is found to be a crucial factor in the kinematical analysis. We also present some number densities for young B-type halo stars, which indicate that they are extremely scarce objects.

Atmospheric parameters and rotational velocities for a sample of Galactic B-type supergiants

High-resolution optical spectra of 57 Galactic B-type supergiant stars have been analysed to determine their rotational and macroturbulent velocities. In addition, their atmospheric parameters (effective temperature, surface gravity and microturbulent velocity) and surface nitrogen abundances have been estimated using a non-local thermodynamic equilibrium grid of model atmospheres. Comparisons of the projected rotational velocities have been made with the predictions of stellar evolutionary models and in general good agreement was found. However, for a small number of targets, their observed rotational velocities were significantly larger than predicted, although their nitrogen abundances were consistent with the rest of the sample. We conclude that binarity may have played a role in generating their large rotational velocities. No correlation was found between nitrogen abundances and the current projected rotational velocities. However, a correlation was found with the inferred projected rotational velocities of the main-sequence precursors of our supergiant sample. This correlation is again in agreement with the predictions of single star evolutionary models that incorporate rotational mixing. The origin of the macroturbulence and microturbulent velocity fields is discussed and our results support previous theoretical studies that link the former to subphotospheric convection and the latter to non-radial gravity mode oscillations. In addition, we have attempted to identify differential rotation in our most rapidly rotating targets.

Factor structure and validity of the Alcohol Use Disorders Identification Test (AUDIT) in a sample of mentally disordered offenders

Investigations of the factor structure of the Alcohol Use Disorders Identification Test (AUDIT) have produced conflicting results. The current study assessed the factor structure of the AUDIT for a group of Mentally Disordered Offenders (MDOs) and examined the pattern of scoring in specific subgroups. The sample comprised 2005 MDOs who completed a battery of tests including the AUDIT. Confirmatory factor analyses revealed that a two-factor solution – alcohol consumption and alcohol-related consequences – provided the best data fit for AUDIT scores. A three-factor solution provided an equally good fit, but the second and third factors were highly correlated and a measure of parsimony also favoured the two-factor solution. This study provides useful information on the factor structure of the AUDIT amongst a large MDO population, while also highlighting the difficulties associated with the presence of people with mental health problems in the criminal justice system.