University of Southampton

About: University of Southampton is a education organization based out in Southampton, United Kingdom. It is known for research contribution in the topics: Population & Laser. The organization has 37184 authors who have published 99400 publications receiving 3462915 citations. The organization is also known as: Southampton University & Soton Uni.

Meta-Analysis of Genome-Wide Association Studies of Attention- Deficit/Hyperactivity Disorder

Abstract: Objective Although twin and family studies have shown attention-deficit/hyperactivity disorder (ADHD) to be highly heritable, genetic variants influencing the trait at a genome-wide significant level have yet to be identified. As prior genome-wide association studies (GWAS) have not yielded significant results, we conducted a meta-analysis of existing studies to boost statistical power. Method We used data from four projects: a) the Children's Hospital of Philadelphia (CHOP); b) phase I of the International Multicenter ADHD Genetics project (IMAGE); c) phase II of IMAGE (IMAGE II); and d) the Pfizer-funded study from the University of California, Los Angeles, Washington University, and Massachusetts General Hospital (PUWMa). The final sample size consisted of 2,064 trios, 896 cases, and 2,455 controls. For each study, we imputed HapMap single nucleotide polymorphisms, computed association test statistics and transformed them to z-scores, and then combined weighted z-scores in a meta-analysis. Results No genome-wide significant associations were found, although an analysis of candidate genes suggests that they may be involved in the disorder. Conclusions Given that ADHD is a highly heritable disorder, our negative results suggest that the effects of common ADHD risk variants must, individually, be very small or that other types of variants, e.g., rare ones, account for much of the disorder's heritability.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Abstract: To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.

Factors that promote or inhibit the implementation of e-health systems: an explanatory systematic review.

Abstract: Resumen Factores que promueven o dificultan la implementacion de los sistemas de telemedicina: revision sistematica explicativa Objetivo Realizar una revision sistematica de la literatura existente sobre la implementacion de la telemedicina para identificar: (1) los obstaculos y estimulos para la implementacion de la telemedicina, y (2) las lagunas pendientes en la investigacion sobre el tema. Metodos Se realizo una busqueda en MEDLINE, EMBASE, CINAHL, PSYCINFO y la Cochrane Library de revisiones publicadas entre el 1 de enero de 1995 y el 17 de marzo de 2009. Los estudios debian ser revisiones sistematicas, revisiones narrativas, metasintesis cualitativas o metaetnografias sobre la implementacion de la telemedicina. Los resumenes y documentos se investigaron doblemente y se extrajeron los datos del pais de origen, el area de la telemedicina, la fecha de publicacion, los objetivos y metodos, las bases de datos buscadas, los criterios de inclusion y exclusion y el numero de documentos. Se analizaron los datos de forma cualitativa mediante un proceso de normalizacion como marco de codificacion explicativo.