Publications by authors named "Emil Uffelmann"
Article Synopsis
- There is a need for a new method to genetically differentiate between related psychiatric disorders like schizophrenia, bipolar disorder, and depression, especially when diagnosing patients initially is tough.
- The proposed method, Differential Diagnosis-Polygenic Risk Score (DDx-PRS), estimates the likelihood of each disorder using genetic data and existing case-control risk scores, making it practical for clinical use as it relies only on summary-level data.
- In tests using data from large psychiatric studies, DDx-PRS showed good accuracy and calibration in predicting diagnoses, outperforming simpler approaches and delivering results comparable to methods that use more extensive tuning data.
Article Synopsis
- * While these Bayesian methods work well for continuous traits, they struggle with binary disorders, making it hard to reliably assess an individual's risk for clinical purposes.
- * The Bayesian Polygenic Score Probability Conversion (BPC) method addresses this by calculating an individual's probability of disorder using existing data without needing additional datasets, and it has shown to provide more accurate results compared to other approaches when tested on various disorders.
Background: Neuroinflammation is involved in the pathophysiology of Alzheimer's disease (AD), including immune-linked genetic variants and molecular pathways, microglia and astrocytes. Multiple Sclerosis (MS) is a chronic, immune-mediated disease with genetic and environmental risk factors and neuropathological features. There are clinical and pathobiological similarities between AD and MS.
View Article and Find Full Text PDFDespite the substantial heritability of antisocial behavior (ASB), specific genetic variants robustly associated with the trait have not been identified. The present study by the Broad Antisocial Behavior Consortium (BroadABC) meta-analyzed data from 28 discovery samples (N = 85,359) and five independent replication samples (N = 8058) with genotypic data and broad measures of ASB. We identified the first significant genetic associations with broad ASB, involving common intronic variants in the forkhead box protein P2 (FOXP2) gene (lead SNP rs12536335, p = 6.
View Article and Find Full Text PDFMost neuropsychiatric disorders are highly polygenic, implicating hundreds to thousands of causal genetic variants that span much of the genome. This widespread polygenicity complicates biological understanding because no single variant can explain disease etiology. A strategy to advance biological insight is to seek convergent functions among the large set of variants and map them to a smaller set of disease-relevant genes and pathways.
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