A5015449667- Asthma and respiratory diseases
- Dermatology and Skin Diseases
- Psoriasis: Treatment and Pathogenesis
- Allergic Rhinitis and Sensitization
- Autoimmune and Inflammatory Disorders Research
- Genetic Associations and Epidemiology
- Rheumatoid Arthritis Research and Therapies
- IL-33, ST2, and ILC Pathways
- Cytokine Signaling Pathways and Interactions
- Systemic Lupus Erythematosus Research
- Nutrition, Genetics, and Disease
- Food Allergy and Anaphylaxis Research
- Urticaria and Related Conditions
- Health, Environment, Cognitive Aging
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Protein Tyrosine Phosphatases
- Delphi Technique in Research
- Amyotrophic Lateral Sclerosis Research
- Retinal Imaging and Analysis
- Genetic and phenotypic traits in livestock
- Galectins and Cancer Biology
- Neurogenetic and Muscular Disorders Research
- Gut microbiota and health
- Transgenic Plants and Applications
University of Bristol
2018-2024
Medical Research Council
2018-2023
MRC Epidemiology Unit
2021
University of Manchester
2014-2017
Versus Arthritis
2014-2017
Genomics (United Kingdom)
2014-2017
Manchester Academic Health Science Centre
2015-2016
National Institute for Health Research
2016
University of Rome Tor Vergata
2015
Fondazione Santa Lucia
2015
Nature Communications 6: Article number: 6046 (2015); Published 5 February 2015; Updated 6 July 2015 The affiliation details for Emiliano Giardina are incorrect in this Article. correct address author is given below: Department of Biopathology, Centre Excellence Genomic Risk Assessment Multifactorial and Complex Diseases, School Medicine, University Rome 'Tor Vergata' Laboratory Molecular Genetics UILDM, Fondazione Santa Lucia, 00179, Italy.
Abstract Large studies use genotype data to discover genetic contributions complex traits and infer relationships between those traits. Co-incident geographical variation in genotypes health can bias these analyses. Here we show that single variants scores composed of multiple are associated with birth location within UK Biobank geographic structure cannot be accounted for using routine adjustment study centre principal components derived from data. We find major outcomes appear...
Abstract Psoriatic arthritis (PsA) is a chronic inflammatory associated with psoriasis and, despite the larger estimated heritability for PsA, majority of genetic susceptibility loci identified to date are shared psoriasis. Here, we present results from case–control association study on 1,962 PsA patients and 8,923 controls using Immunochip genotyping array. We identify eight passing genome-wide significance, secondary independent effects at three distinct PsA-specific variant IL23R locus....
Background: Incorporation of gene expression when estimating polygenic risk scores (PRS) in atopic dermatitis (AD) may provide additional insights disease pathogenesis and enhance predictive accuracy. Objective: In this study, we developed transcriptome (PTRSs) derived from AD-enriched tissues evaluated their performance against traditional PRS models a baseline model incorporating eosinophil lymphocyte counts the prediction AD. Methods: We conducted transcriptome-wide association studies...
Background Environmental factors play a role in the pathogenesis of complex traits including atopic eczema (AE) and greater understanding gene-environment interactions (G*E) is needed to define pathomechanisms for disease prevention. We analysed data from 16 European studies test interaction between 24 most significant AE-associated loci identified genome-wide association 18 early-life environmental factors. tested replication using further 10 vitro modelling independently assess findings....
Abstract Background Observational studies have reported an association between allergic disease and mental health, but a causal relationship has not been established. Here, we use Mendelian randomization (MR) to investigate possible atopic health phenotypes. Methods The observational was investigated in UK Biobank. direction of causality with bidirectional two‐sample MR using summary‐level data from published genome‐wide studies. A genetic instrument derived associated variants for broad...
Atopic dermatitis (AD) disease activity and severity is highly variable during childhood. Early attempts to identify subtypes based on trajectory have assessed AD presence over time without incorporating severity.To childhood from symptom trajectories, determine associations with genetic risk factors, comorbidities demographic environmental variables.We split data children in the Avon Longitudinal Study of Parents Children birth cohort into development validation sets. To subtypes, we ran...
Introductory paragraph The inclusion of genetic data in large studies has enabled the discovery contributions to complex traits and their application applied analyses including those using risk scores (GRS) for prediction phenotypic variance. If genotypes show structure by location coincident exists trait interest, can be biased. Having illustrated an apparently homogeneous collection, we aimed a) test geographical stratification UK Biobank b) assess whether might induce bias association...
Psoriatic arthritis (PsA) is an inflammatory associated with psoriasis. While many common risk alleles have been reported for association PsA as well psoriasis, few rare coding yet identified.To identify variation or protection, we genotyped 41 267 variants the exome chip and investigated within initial cohort of 1980 cases 5913 controls. Genotype data independent 2234 5708 controls was also made available, allowing a meta-analysis to be performed discovery dataset.We identified variant...
Objectives: Several rheumatoid arthritis (RA) susceptibility loci have also been found to be associated with psoriatic (PsA), demonstrating that there is a degree of genetic overlap between various autoimmune diseases. We sought investigate whether single nucleotide polymorphisms (SNPs) mapping previously reported RA and/or PsA loci, including PLCL2, CCL21, REL, STAT4, CD226, PTPN22, and TYK2, are risk for the two diseases in genetically homogeneous Greek population.Method: This study...
Objective Smoking has been widely studied as a susceptibility factor for amyotrophic lateral sclerosis (ALS), but results are conflicting and at risk of confounding bias. We used the recently published large genome-wide association studies Mendelian randomisation methods to reduce assess relationship between smoking ALS. Methods Two investigating lifetime (n=463 003) ever (n=1 232 091) were identified define instrumental variables smoking. A study ALS (20 806 cases; 59 804 controls) was...
de niveau recherche, publiés ou non, émanant des établissements d'enseignement et recherche français étrangers, laboratoires publics privés.
ABSTRACT Objective Psoriasis and eczema are common inflammatory skin diseases that have been reported to be associated with obesity. However, causality has not yet established. We aimed investigate the possible causal relationship between body mass index (BMI) psoriasis or eczema. Methods Following a review of published epidemiological evidence association obesity either eczema, Mendelian Randomization (MR) was used test for BMI these conditions. genetic instrument comprising 97 single...
<ns3:p>Background Null mutations within the filaggrin (<ns3:italic>FLG</ns3:italic>) gene are established genetic risk factors for atopic dermatitis. Studies of <ns3:italic>FLG</ns3:italic> have typically used sequencing or bespoke genotyping. Large-scale population cohorts with genome-wide imputed data offer powerful analysis opportunities, but genotyping is often not feasible in such studies. Therefore, we aimed to determine quality selected null genotype extracted from sources, focussing...