Publications by authors named "W A Scheftner"

Article Synopsis
  • The study investigates the genetic and phenotypic traits associated with age at onset (AAO) and polarity at onset (PAO) in bipolar disorder to enhance understanding of the illness and develop screening tools.
  • Results indicate that an earlier AAO is linked to more severe symptoms, such as psychosis and suicidality, as well as variations in educational success and living situations.
  • The research reveals a significant relationship between higher polygenic risk scores for other mental disorders and earlier AAO, although no significant associations were found for PAO, highlighting considerable variability across different cohorts.
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Article Synopsis
  • * The analysis discovered 30 significant genetic loci linked to bipolar disorder, including 20 that hadn't been previously identified, which involve genes related to ion channels and neurotransmitter systems.
  • * The study also showed that Bipolar I disorder has a genetic connection to schizophrenia, particularly linked to psychosis, while Bipolar II disorder is more closely related to major depressive disorder, shedding light on potential biological mechanisms and clinical implications.
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Genome-wide association studies of case-control status have advanced the understanding of the genetic basis of psychiatric disorders. Further progress may be gained by increasing sample size but also by new analysis strategies that advance the exploitation of existing data, especially for clinically important quantitative phenotypes. The functionally-informed efficient region-based test strategy (FIERS) introduced herein uses prior knowledge on biological function and dependence of genotypes within a powerful statistical framework with improved sensitivity and specificity for detecting consistent genetic effects across studies.

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Background: Disentangling the etiology of common, complex diseases is a major challenge in genetic research. For bipolar disorder (BD), several genome-wide association studies (GWAS) have been performed. Similar to other complex disorders, major breakthroughs in explaining the high heritability of BD through GWAS have remained elusive.

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Article Synopsis
  • - Bipolar disorder (BD) is a complex genetic mental illness with mood and behavioral swings, and previous studies have only identified a small part of its hereditary risk.
  • - The largest genome-wide association study (GWAS) to date analyzed over 9 million genetic variants from nearly 10,000 BD patients and over 30,000 controls, revealing two new significant genetic loci associated with the disorder.
  • - The study highlights the importance of using well-defined patient groups and a larger control sample in genetics research to discover common genetic variants contributing to BD.
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