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Approved research

Genetic causes of complex human traits: emphasis on psychiatric, ocular, dermatological, and cardiovascular diseases.

Principal Investigator: Dr Goncalo Abecasis
Approved Research ID: 24460
Approval date: April 1st 2016

Lay summary

We aim to identify novel genetic markers of complex human traits, including a number of psychiatric, ocular, dermatological, and cardiovascular diseases. In particular we hope to identify genetic causes of schizophrenia, bipolar disorders, chronic pain, age-related macular degeneration, glucoma, blindness, psoriatic arthritis and cutaneous psoriasis, atrial fibrillation, hypertension, myocardial infarction, and risk factors for ischemic heart disease such as diabetes and lipid profiles. Psychiatric, ocular, dermatological, and cardiovascular diseases represent major public health burdens. Identification of genetic markers involved in these diseases can improve our understanding of the pathophysiological mechanisms and help identify novel biological pathways and therapeutic targets for improving prevention and treatment. Using UK Biobank genetic chip data and an appropriate genetic reference panel, we propose to impute with high precision a large proportion of the human genome and link rare and common genetic markers with various phenotypic traits obtained from questionnaires, clinical examinations and medical records. Genetic variants identified to segregate with the trait of interest will be further evaluated by applying a number of bioinformatic tools. Additionally, novel findings will be sought replicated in independent cohorts and both meta-analysis and phenome-wide association scans will be undertaken. If possible, we would prefer access to the full cohort (n=500,000, when available) in order to increase the likelihood of genetic discoveries.