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Genetics of disease severity in multiple sclerosis, Alzheimer’s disease, and Huntington’s disease: rejuvenating genome-wide association studies

Psychological Medicine and Clinical Neuroscience, Department of Neurology, Cardiff University, University Hospital of Wales , Heath Park, Cardiff CF14 4XN , UK 1 Neil Robertson Vol.:(011233456789) Introduction

Seasonal variation in multiple sclerosis relapse

Relapses are a characteristic clinical feature of multiple sclerosis (MS), but an appreciation of factors that cause them remains elusive. In this study, we have examined seasonal variation of relapse in a large population-based MS cohort and correlated observed patterns with age, sex, disease course, and climatic factors. Relapse data were recorded prospectively in 2076 patients...

Complement is activated in progressive multiple sclerosis cortical grey matter lesions

Background The symptoms of multiple sclerosis (MS) are caused by damage to myelin and nerve cells in the brain and spinal cord. Inflammation is tightly linked with neurodegeneration, and it is the accumulation of neurodegeneration that underlies increasing neurological disability in progressive MS. Determining pathological mechanisms at play in MS grey matter is therefore a key...

Mapping H4K20me3 onto the chromatin landscape of senescent cells indicates a function in control of cell senescence and tumor suppression through preservation of genetic and epigenetic stability

Background Histone modification H4K20me3 and its methyltransferase SUV420H2 have been implicated in suppression of tumorigenesis. The underlying mechanism is unclear, although H4K20me3 abundance increases during cellular senescence, a stable proliferation arrest and tumor suppressor process, triggered by diverse molecular cues, including activated oncogenes. Here, we investigate...

The recently identified modifier of murine metastable epialleles, Rearranged L-Myc Fusion, is involved in maintaining epigenetic marks at CpG island shores and enhancers

Background We recently identified a novel protein, Rearranged L-myc fusion (Rlf), that is required for DNA hypomethylation and transcriptional activity at two specific regions of the genome known to be sensitive to epigenetic gene silencing. To identify other loci affected by the absence of Rlf, we have now analysed 12 whole genome bisulphite sequencing datasets across three...

Seroprevalence of Molluscum contagiosum Virus in German and UK Populations

Molluscum contagiosum virus (MCV) is a significant but underreported skin pathogen for children and adults. Seroprevalence studies can help establish burden of disease. Enzyme linked immunosorbent assay (ELISA) based studies have been published for Australian and Japanese populations and the results indicate seroprevalences between 6 and 22 percent in healthy individuals...

Evaluation of Common Type 2 Diabetes Risk Variants in a South Asian Population of Sri Lankan Descent

Introduction Most studies seeking common variant associations with type 2 diabetes (T2D) have focused on individuals of European ancestry. These discoveries need to be evaluated in other major ancestral groups, to understand ethnic differences in predisposition, and establish whether these contribute to variation in T2D prevalence and presentation. This study aims to establish...

DiscoverySpace: an interactive data analysis application

DiscoverySpace is a graphical application for bioinformatics data analysis. Users can seamlessly traverse references between biological databases and draw together annotations in an intuitive tabular interface. Datasets can be compared using a suite of novel tools to aid in the identification of significant patterns. DiscoverySpace is of broad utility and its particular strength...

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

Inga Prokopenko Joshua C. Randall Richa Saxena Nicole Soranzo Elizabeth K. Speliotes Tanya M. Teslovich Eleanor Wheeler Jared Maguire Melissa Parkin Simon Potter N. William Rayner Neil Robertson Kathleen

The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

In this study, Prokopenko and colleagues provide novel evidence for causal relationship between adiposity and heart failure and increased liver enzymes using a Mendelian randomization study design. Please see later in the article for the Editors' Summary