| Title: | Investigation of the genetic burden of eczema and the genetic overlap between eczema and related conditions |
| Lead Institution: | University of Bristol |
| Principal investigator: | Dr Lavinia Paternoster |
Application 10074
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About
Eczema is a heritable chronic relapsing skin condition, common in early childhood, which can persist into adulthood. Eczema sufferers are at increased risk of other atopic conditions and other health problems. Several genes have been identified which influence predisposition to eczema. Some of these genes are also important in other diseases, such as asthma, hayfever, inflammatory bowel disease and psoriasis. I propose to use UK Biobank to investigate the genetic overlap between eczema and other related diseases and where possible, explore the causal relationships. As a resource that has collected a breadth of disease data on a very large number of individuals and with genome-wide genotype data available, UK Biobank provides a unique opportunity to study the genetic overlap between eczema and other diseases. Through identification of genetic variants and causal relationships we aim to improve the understanding of the mechanisms of pathophysiology of these serious diseases. This provides opportunities to improve diagnosis and identify novel targets for treatment, in line with UK Biobank's core principles. Phenotypic data collected by UKBiobank will be used to class individuals as 'cases' or 'controls' for the diseases of interest. Genome-wide genetic data will be used to identify genetic variants that differ or are consistent between individuals with different disease profiles. We will use a technique called mendelian randomisation (where a genetic instrument for the exposure of interest is used) to determine if there are causal relationships between atopic disease and other conditions, such as obesity, depression and lung cancer. We propose to use the full cohort of 500,000 people. For each of the conditions under study we require large numbers of cases and controls to have sufficient power to detect genetic differences.4 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 8823 | Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct | Manuel A.R. Ferreira (+18) | 2019 | American Journal of Human Genetics |
| 7427 | Imputation provides an opportunity to study filaggrin (FLG) null mutations in large population cohorts that lack bespoke genotyping | Lavinia Paternoster (+2) | 2022 | Wellcome Open Research |
| 8495 | Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology | Manuel A Ferreira (+65) | 2017 | Nature Genetics |
| 9673 | Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci | Maria K. Sobczyk (+6) | 2021 | Journal of Investigative Dermatology |
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