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

Linkage Mapping and Comparative Genomics Using Next-Generation RAD Sequencing of a Non-Model Organism

Restriction-site associated DNA (RAD) sequencing is a powerful new method for targeted sequencing across the genomes of many individuals. This approach has broad potential for genetic analysis of non-model organisms including genotype-phenotype association mapping, phylogeography, population genetics and scaffolding genome assemblies through linkage mapping. We constructed a RAD library using genomic DNA from a Plutella xylostella (diamondback moth) backcross that segregated for resistance to the insecticide spinosad. Sequencing of 24 individuals was performed on a single Illumina GAIIx lane (51 base paired-end reads). Taking advantage of the lack of crossing over in homologous chromosomes in female Lepidoptera, 3,177 maternally inherited RAD alleles were assigned to the 31 chromosomes, enabling identification of the spinosad resistance and W/Z sex chromosomes. Paired-end reads for each RAD allele were assembled into contigs and compared to the genome of Bombyx mori (n = 28) using BLAST, revealing 28 homologous matches plus 3 expected fusion/breakage events which account for the difference in chromosome number. A genome-wide linkage map (1292 cM) was inferred with 2,878 segregating RAD alleles inherited from the backcross father, producing chromosome and location specific sequenced RAD markers. Here we have used RAD sequencing to construct a genetic linkage map de novo for an organism that has no previous genome data. Comparative analysis of P. xyloxtella linkage groups with B. mori chromosomes shows for the first time, genetic synteny appears common beyond the Macrolepidoptera. RAD sequencing is a powerful system capable of rapidly generating chromosome specific data for non-model organisms

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.

Bacteremia (bacterial bloodstream infection) is a major cause of illness and death in sub-Saharan Africa but little is known about the role of human genetics in susceptibility. We conducted a genome-wide association study of bacteremia susceptibility in more than 5,000 Kenyan children as part of the Wellcome Trust Case Control Consortium 2 (WTCCC2). Both the blood-culture-proven bacteremia case subjects and healthy infants as controls were recruited from Kilifi, on the east coast of Kenya. Streptococcus pneumoniae is the most common cause of bacteremia in Kilifi and was thus the focus of this study. We identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia and replicated the results in the same population (p combined = 1.69 × 10(-9); OR = 2.47, 95% CI = 1.84-3.31). The susceptibility allele is African specific, derived rather than ancestral, and occurs at low frequency (2.7% in control subjects and 6.4% in case subjects). Our further studies showed AC011288.2 expression only in neutrophils, a cell type that is known to play a major role in pneumococcal clearance. Identification of this novel association will further focus research on the role of lincRNAs in human infectious disease.Wellcome Trust (Grant ID: 084716/Z/08/Z)This is the final version of the article. It first appeared from Cell Press/Elsevier via http://dx.doi.org/10.1016/j.ajhg.2016.03.02

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

publisher: Elsevier articletitle: Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes journaltitle: Cell articlelink: https://doi.org/10.1016/j.cell.2018.05.046 content_type: article copyright: © 2018 Elsevier Inc

Asiakastyytyväisyystutkimus : Simon Auto Oy

Opinnäytetyön tarkoituksena oli selvittää Pihtiputaan Simon Auto Oy:n asiakkaiden tyytyväisyyttä. Asiakkaiden tyytyväisyyttä selvitettiin myymälään ja kahvioon, sijaintiin sekä asiakaspalveluun. Tutkimuksessa selvitettiin samalla myös asiakkaiden taustatietoja sekä asiointitiheyttä. Opinnäytetyön teoriaosuudessa käsitellään palvelun laatua, markkinointia yleisellä tasolla, asiakastyytyväisyyttä sekä erilaisia tutkimustyyppejä. Lähteinä opinnäytetyössä käytettiin palvelua, markkinointia, asiakastyytyväisyyttä sekä tilastollista tutkimusta käsittelevää kirjallisuutta. Asiakastyytyväisyystutkimus suoritettiin kyselylomakkeella Pihtiputaan Simon Auto Oy:ssä. Vastauksia saatiin yhteensä 29 kappaletta. Tutkimuksen tulosten perusteella asiakaspalvelun laatuun sekä myymälään ja kahvioon oltiin pääosin tyytyväisiä.The purpose of this thesis was to study the satisfaction of the customers of Simon Auto Oy. The aim was to find out customers’ satisfaction with the store, cafeteria, location and customer service. This study also examined customers’ backgrounds and density of transactions. The theoretical part of this thesis deals with the quality of service, marketing at a general level, customer satisfaction and different research types. The sources of this thesis represented literature that covered service, marketing, customer satisfaction and statistical research. The customer satisfaction research was carried out by using questionnaire which took place at the store. The total number of answers was 29. Based on the research results, the customers were mainly contented with the quality of the customer service and with the store and the cafeteria

Recent hospitalization for Non-coronary events and use of preventive medications for coronary artery disease: An observational cohort study

<p>Abstract</p> <p>Background</p> <p>High-quality systems have adopted a comprehensive approach to preventive care instead of diagnosis or procedure driven care. The current emphasis on prescribing medications to prevent complications of coronary artery disease (CAD) at discharge following an acute coronary syndrome (ACS) may exclude high-risk patients who are hospitalized with conditions other than ACS.</p> <p>Methods</p> <p>Among a sample of patients with CAD treated at Veterans Affairs medical centers between January, 2005 and November, 2006, we investigated whether recent non-ACS hospitalization was associated with prescriptions of preventive medications as compared with patients recently hospitalized with ACS.</p> <p>Results</p> <p>Of 13,211 patients with CAD, 58% received aspirin, 70% β-blocker, 60% angiotensin-converting enzyme inhibitor (ACE-I) or angiotensin II receptor blocker (ARB), and 65% lipid-lowering therapy. Twenty-five percent of eligible patients were receiving all four medications. Having been hospitalized for a non-ACS event in the prior 6 months did not substantially affect the adjusted proportion on preventive medications. In contrast, among patients hospitalized for ACS in the prior 6 months, the adjusted proportion prescribed aspirin was 21% higher (p < 0.001), β-blocker was 14% higher (p < 0.001), ACE-I or ARB was 9% higher (p < 0.001), lipid therapy was 12% higher (p < 0.001), and prescribed all four medications was 18% higher (p < 0.001) than among patients hospitalized for ACS more than 2 years earlier.</p> <p>Conclusions</p> <p>Being hospitalized for a non-ACS condition did not appear to influence preventive medication use among patients with CAD and represents a missed opportunity to improve patient care. The same protocols employed to improve use of preventive medications in patients discharged for ACS might be extended to CAD patients discharged for other conditions as well.</p

Class II HLA interactions modulate genetic risk for multiple sclerosis

Association studies have greatly refined the understanding of how variation within the human leukocyte antigen (HLA) genes influences risk of multiple sclerosis. However, the extent to which major effects are modulated by interactions is poorly characterized. We analyzed high-density SNP data on 17,465 cases and 30,385 controls from 11 cohorts of European ancestry, in combination with imputation of classical HLA alleles, to build a high-resolution map of HLA genetic risk and assess the evidence for interactions involving classical HLA alleles. Among new and previously identified class II risk alleles (HLA-DRB1*15:01, HLA-DRB1*13:03, HLA-DRB1*03:01, HLA-DRB1*08:01 and HLA-DQB1*03:02) and class I protective alleles (HLA-A*02:01, HLA-B*44:02, HLA-B*38:01 and HLA-B*55:01), we find evidence for two interactions involving pairs of class II alleles: HLA-DQA1*01:01-HLA-DRB1*15:01 and HLA-DQB1*03:01-HLA-DQB1*03:02. We find no evidence for interactions between classical HLA alleles and non-HLA risk-associated variants and estimate a minimal effect of polygenic epistasis in modulating major risk alleles.status: publishe