Polygenic risk scores

…antiseizure medication response, and polygenic risk scores integrated with machine learning to estimate disease severity and seizure control. The presentations link these complementary approaches to the problem of clinical heterogeneity and assess their practical role in more individualized treatment. Sunday 6 December, 14:00–15:30 Mountain Standard Time (America/Denv

…association studies, pleiotropy and polygenic risk scores, then considers their use in precision medicine. Outstanding limitations include unexplained heritability and the uneven representation of human populations in genomic research.

Schizophrenia phenotypes are suggestive of impaired cortical plasticity in the disease, but the mechanisms of these deficits are unknown. Genomic association studies have implicated a large number of genes that regulate neuromodulation and plasticity, indicating that the plasticity deficits have a genetic origin. Here, we used biochemically detailed computational modelling of post-synaptic plasticity to investigate how schizophrenia-associated genes regulate long-term potentiation (LTP) and depression (LTD). We combined our model with data from post-mortem RNA expression studies (CommonMind ge

…behavioural traits such as risk-taking behaviour, impulsivity, irritability, neuroticism, or anxiety. This study investigates shared genetic risk factors across these phenotypes using public genome-wide association study (GWAS) data: five GWAS on SUD, two on aggressive behaviour, and seven on related behavioural traits. We calculated genetic correlations and identified trait-specific associated SNPs shared between these phenotypes using Polarmorphism. Also, we determined how the

Whilst epilepsy may be a consequence of an acquired insult including trauma, stroke, and brain tumours, the genetic component to epilepsies has been greatly under-estimated. Considerable progress has recently occurred in the understanding of epilepsy genetics, both at a clinical genetic level and in the basic science of epilepsies. The clinical evidence for genetic components will be first briefly discussed including data from population studies, twin analyses and multiplex family studies. Initial molecular discoveries occurred via classical methods of linkage and gene identification. Recent l

…with schizophrenia has enabled polygenic risk scores (PRS) to be measured in the population. It is hypothesized that normal variation in genetic risk of schizophrenia should be associated with MRI changes in brain morphometry and tissue composition. Methods: We used the largest extant genome-wide association dataset (N = 69,369 cases and N = 236,642 healthy controls) to measure PRS for schizophrenia in a large sample of adults from the UK Biobank (Nmax = 29,878) who had multiple micro- and macro-structural MRI metrics