Association of rs12255372 in theTCF7L2 gene with type 2 diabetes mellitus: a meta-analysis

Our objective was to evaluate the association of rs12255372 in theTCF7L2 gene with type 2 diabetes mellitus (T2DM) in the world population. We carried out a survey of the literature about the effect of rs12255372 on genetic susceptibility to T2DM by consulting PubMed, the Cochrane Library, and Embase from 2006 to 2012, and then performed a meta-analysis of all the studies in order to evaluate the association between rs12255372 and T2DM. A total of 33 articles including 42 studies (with 34,076 cases and 36,192 controls) were confirmed to be eligible and were included in the final meta-analysis: 6 studies conducted on Europeans, 14 on Caucasians, 17 on Asians, 2 on Africans, and 3 on Americans. Overall, the effect size was as follows: for the variant allele T (OR = 1.387, 95%CI = 1.351-1.424), for the TT genotype (OR = 1.933, 95%CI = 1.815-2.057), for the GT genotype (OR = 1.363, 95%CI = 1.315-1.413), for the dominant model (OR = 1.425, 95%CI = 1.344-1.510), and for the recessive model (OR = 1.659, 95%CI = 1.563-1.761). In summary, by pooling all available qualified data from genetic studies on rs12255372 and T2DM, we have confirmed that rs12255372 is significantly associated with susceptibility to T2DM in the global population.

Incorporating Language Skills Strategies into Library Instruction for ESL Students

a self-reflection study of the incorporation of language skills strategies in speaking, listening, reading, and writing in a library instruction classroom setting

Is Library Database Searching a Language Learning Activity?

A qualitative research study that asked international students how they thought of words to enter into a library database to see if language learning was also involved.

Library Open Access publishing funds

Presentation on scope, successes and challenges facing library Open Access publishing funds delivered at the Canadian Association of Learned Journals meeting at Congress 2014, Brock University, St. Catharines, ON, Canada. Focus on Canada but also some info on the U.S.

Copyright in the Stacks: The Chilling Effects of Unclear Copyright Interpretations in the Canadian Academic Library

Presented at the Annual Conference of the Canadian Political Science Association, Brock University, St. Catharines, Ontario, May 27, 2014

Building a Canadian Virtual Health Library Database / Création de la Bibliothèque virtuelle canadienne de santé

Introduction: Avec l’abondance d’information gratuite disponible en ligne, la tâche de trouver, de trier et d’acheminer de l’information pertinente à l’auditoire approprié peut s’avérer laborieuse. En décembre 2010, la Bibliothèque virtuelle canadienne de santé / Canadian Virtual Health Library (BVCS) a formé un comité d’experts afin d’identifier, d’évaluer, de sélectionner et d’organiser des ressources d’intérêt pour les professionnels de la santé. Méthodes: Cette affiche identifiera les décisions techniques du comité d’experts, incluant le système de gestion de contenus retenu, l’utilisation des éléments Dublin Core et des descripteurs Medical Subject Headings pour la description des ressources, et le développement et l’adaptation de taxonomies à partir de la classification MeSH. La traduction française des descripteurs MeSH à l’aide du portail CISMeF sera également abordée. Résultats: Au mois de mai 2011, le comité a lancé la base de données BVCS de ressources en ligne gratuites sur la santé, regroupant plus de 1600 sites web et ressources. Une variété de types de contenus sont représentés, incluant des articles et rapports, des bases de données interactives et des outils de pratique clinique. Discussion: Les bénéfices et défis d’une collaboration pancanadienne virtuelle seront présentés, ainsi que l’inclusion cruciale d’un membre francophone pour composer avec la nature bilingue de la base de données. En lien avec cet aspect du projet, l’affiche sera présentée en français et en anglais. Introduction: With the abundance of freely available online information, the task of finding, filtering and fitting relevant information to the appropriate audience, is daunting. In December 2010 the Canadian Virtual Health Library / Bibliothèque virtuelle canadienne de santé (CVHL) formed an expert committee to identify, evaluate, select and organize resources relevant to health professionals. Methods: This poster will identify the key technical decisions of the expert committee including the content management system used to manage the data, the use of Dublin Core elements and Medical Subject Headings to describe the resources, and the development and adaptation of taxonomies from MeSH classification to catalog resources. The translation of MeSH terms to French using the CiSMeF portal will also be discussed. Results: In May 2010, the committee launched the CVHL database of free web-based health resources. Content ranged from online articles and reports to videos, interactive databases and clinical practice tools, and included more than 1,600 websites and resources. Discussion: The benefits and challenges of a virtual, pan-Canadian collaboration, and the critical inclusion of a Francophone member to address the bilingual nature of the database, will be presented. In keeping with the nature of the project, the poster will be presented in French and English.

A portal for the Canadian Virtual Health Library / Bibliothèque virtuelle canadienne de la santé (CVHL/BVCS): Accomplishments and possibilities, scope and structure - a review of best practices

Introduction: Coordination through CVHL/BVCS gives Canadian health libraries access to information technology they could not offer individually, thereby enhancing the library services offered to Canadian health professionals. An example is the portal being developed. Portal best practices are of increasing interest (usability.gov; Wikipedia portals; JISC subject portal project; Stanford clinical portals) but conclusive research is not yet available. This paper will identify best practices for a portal bringing together knowledge for Canadian health professionals supported through a network of libraries. Description: The portal for Canadian health professionals will include capabilities such as: • Authentication • Question referral • Specialist “branch libraries” • Integration of commercial resources, web resources and health systems data • Cross-resource search engine • Infrastructure to enable links from EHR and decision support systems • Knowledge translation tools, such as highlighting of best evidence Best practices will be determined by studying the capabilities of existing portals, including consortia/networks and individual institutions, and through a literature review. Outcomes: Best practices in portals will be reviewed. The collaboratively developed Virtual Library, currently the heart of cvhl.ca, is a unique database collecting high quality, free web documents and sites relevant to Canadian health care. The evident strengths of the Virtual Library will be discussed in light of best practices. Discussion: Identification of best practices will support cost-benefit analysis of options and provide direction for CVHL/BVCS. Open discussion with stakeholders (libraries and professionals) informed by this review will lead to adoption of the best technical solutions supporting Canadian health libraries and their users.

An R Library for Compositional Data Analysis in Archaeometry

Compositional data naturally arises from the scientific analysis of the chemical composition of archaeological material such as ceramic and glass artefacts. Data of this type can be explored using a variety of techniques, from standard multivariate methods such as principal components analysis and cluster analysis, to methods based upon the use of log-ratios. The general aim is to identify groups of chemically similar artefacts that could potentially be used to answer questions of provenance. This paper will demonstrate work in progress on the development of a documented library of methods, implemented using the statistical package R, for the analysis of compositional data. R is an open source package that makes available very powerful statistical facilities at no cost. We aim to show how, with the aid of statistical software such as R, traditional exploratory multivariate analysis can easily be used alongside, or in combination with, specialist techniques of compositional data analysis. The library has been developed from a core of basic R functionality, together with purpose-written routines arising from our own research (for example that reported at CoDaWork'03). In addition, we have included other appropriate publicly available techniques and libraries that have been implemented in R by other authors. Available functions range from standard multivariate techniques through to various approaches to log-ratio analysis and zero replacement. We also discuss and demonstrate a small selection of relatively new techniques that have hitherto been little-used in archaeometric applications involving compositional data. The application of the library to the analysis of data arising in archaeometry will be demonstrated; results from different analyses will be compared; and the utility of the various methods discussed

Dietary factors impact on the association between CTSS variants and obesity related traits

BACKGROUND/AIMS: Cathepsin S, a protein coded by the CTSS gene, is implicated in adipose tissue biology--this protein enhances adipose tissue development. Our hypothesis is that common variants in CTSS play a role in body weight regulation and in the development of obesity and that these effects are influenced by dietary factors--increased by high protein, glycemic index and energy diets. METHODS: Four tag SNPs (rs7511673, rs11576175, rs10888390 and rs1136774) were selected to capture all common variation in the CTSS region. Association between these four SNPs and several adiposity measurements (BMI, waist circumference, waist for given BMI and being a weight gainer-experiencing the greatest degree of unexplained annual weight gain during follow-up or not) given, where applicable, both as baseline values and gain during the study period (6-8 years) were tested in 11,091 European individuals (linear or logistic regression models). We also examined the interaction between the CTSS variants and dietary factors--energy density, protein content (in grams or in % of total energy intake) and glycemic index--on these four adiposity phenotypes. RESULTS: We found several associations between CTSS polymorphisms and anthropometric traits including baseline BMI (rs11576175 (SNP N°2), p = 0.02, β = -0.2446), and waist change over time (rs7511673 (SNP N°1), p = 0.01, β = -0.0433 and rs10888390 (SNP N°3), p = 0.04, β = -0.0342). In interaction with the percentage of proteins contained in the diet, rs11576175 (SNP N°2) was also associated with the risk of being a weight gainer (p(interaction) = 0.01, OR = 1.0526)--the risk of being a weight gainer increased with the percentage of proteins contained in the diet. CONCLUSION: CTSS variants seem to be nominally associated to obesity related traits and this association may be modified by dietary protein intake.

Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?

The INSIG2 rs7566605 polymorphism was identified for obesity (BMI> or =30 kg/m(2)) in one of the first genome-wide association studies, but replications were inconsistent. We collected statistics from 34 studies (n = 74,345), including general population (GP) studies, population-based studies with subjects selected for conditions related to a better health status ('healthy population', HP), and obesity studies (OB). We tested five hypotheses to explore potential sources of heterogeneity. The meta-analysis of 27 studies on Caucasian adults (n = 66,213) combining the different study designs did not support overall association of the CC-genotype with obesity, yielding an odds ratio (OR) of 1.05 (p-value = 0.27). The I(2) measure of 41% (p-value = 0.015) indicated between-study heterogeneity. Restricting to GP studies resulted in a declined I(2) measure of 11% (p-value = 0.33) and an OR of 1.10 (p-value = 0.015). Regarding the five hypotheses, our data showed (a) some difference between GP and HP studies (p-value = 0.012) and (b) an association in extreme comparisons (BMI> or =32.5, 35.0, 37.5, 40.0 kg/m(2) versus BMI<25 kg/m(2)) yielding ORs of 1.16, 1.18, 1.22, or 1.27 (p-values 0.001 to 0.003), which was also underscored by significantly increased CC-genotype frequencies across BMI categories (10.4% to 12.5%, p-value for trend = 0.0002). We did not find evidence for differential ORs (c) among studies with higher than average obesity prevalence compared to lower, (d) among studies with BMI assessment after the year 2000 compared to those before, or (e) among studies from older populations compared to younger. Analysis of non-Caucasian adults (n = 4889) or children (n = 3243) yielded ORs of 1.01 (p-value = 0.94) or 1.15 (p-value = 0.22), respectively. There was no evidence for overall association of the rs7566605 polymorphism with obesity. Our data suggested an association with extreme degrees of obesity, and consequently heterogeneous effects from different study designs may mask an underlying association when unaccounted for. The importance of study design might be under-recognized in gene discovery and association replication so far.

A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study

Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p<1.5×10-5, 12 SNPs from the pooled association analysis were individually genotyped in 542 of the participants and analyzed to validate the initial associations (lowest p-value 1.14 ×10-6). In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278 × 10-4). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64). The SNP that showed the strongest association, rs789859, is located in a region on chromosome 3q29 that has been previously linked to learning difficulties and autism. rs789859 lies 1.3 kbp downstream of LSG1, and 700 bp upstream of FAM43A, mapping within the potential promoter/regulatory region of the latter. To our knowledge, this is only the second study to investigate the association of genetic variants with mathematical ability, and it highlights a number of interesting markers for future study.

A pooled genome-wide association study of Asperger Syndrome

Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

Molecular characterization of a retrotransposon in the Rhynchosciara americana genome and its association with telomere

Non-LTR retrotransposons, also known as long interspersed nuclear elements (LINEs), are transposable elements that encode a reverse transcriptase and insert into genomic locations via RNA intermediates. The sequence analysis of a cDNA library constructed from mRNA of the salivary glands of R. americana showed the presence of putative class I elements. The cDNA clone with homology to a reverse transcriptase was the starting point for the present study. Genomic phage was isolated and sequenced and the molecular structure of the element was characterized as being a non-LTR retrotransposable element. Southern blot analysis indicated that this transposable element is represented by repeat sequences in the genome of R. americana. Chromosome tips were consistently positive when this element was used as probe in in-situ hybridization. Real-time RT-PCR showed that this retrotransposon is transcribed at different periods of larval development. Most interesting, the silencing of this retrotransposon in R. americana by RNA interference resulted in reduced transcript levels and in accelerated larval development.

First Description of a Cluster of Acute/Subacute Paracoccidioidomycosis Cases and Its Association with a Climatic Anomaly

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Genome-Wide Association for Growth Traits in Canchim Beef Cattle

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)