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Genome-wide association analysis of composite sleep health scores in 413,904 individuals.
Commun Biol
January 2025
Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Recent genome-wide association studies (GWASs) of several individual sleep traits have identified hundreds of genetic loci, suggesting diverse mechanisms. Moreover, sleep traits are moderately correlated, so together may provide a more complete picture of sleep health, while illuminating distinct domains. Here we construct novel sleep health scores (SHSs) incorporating five core self-report measures: sleep duration, insomnia symptoms, chronotype, snoring, and daytime sleepiness, using additive (SHS-ADD) and five principal components-based (SHS-PCs) approaches.
View Article and Find Full Text PDFGenomics yields biological and phenotypic insights into bipolar disorder.
Nature
January 2025
Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.
View Article and Find Full Text PDFIdentifying genetic differences between bipolar disorder and major depression through multiple genome-wide association analyses.
Br J Psychiatry
January 2025
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, USA; Department of Human Genetics, University of California Los Angeles, USA; and Department of Computational Medicine, University of California Los Angeles, USA.
Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).
Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.
Heritable polygenic editing: the next frontier in genomic medicine?
Nature
January 2025
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Polygenic genome editing in human embryos and germ cells is predicted to become feasible in the next three decades. Several recent books and academic papers have outlined the ethical concerns raised by germline genome editing and the opportunities that it may present. To date, no attempts have been made to predict the consequences of altering specific variants associated with polygenic diseases.
View Article and Find Full Text PDFThe impact of self-report inaccuracy in the UK Biobank and its interplay with selective participation.
Nat Hum Behav
December 2024
Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.
Although the use of short self-report measures is common practice in biobank initiatives, such a phenotyping strategy is inherently prone to reporting errors. To explore challenges related to self-report errors, we first derived a reporting error score in the UK Biobank (UKBB; n = 73,127), capturing inconsistent self-reporting in time-invariant phenotypes across multiple measurement occasions. We then performed genome-wide scans on the reporting error score, applied downstream analyses (linkage disequilibrium score regression and Mendelian randomization) and compared its properties to the UKBB participation propensity.
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