Publications by authors named "K D Chambert"
Article Synopsis
- * Researchers discovered 287 genomic regions associated with schizophrenia, emphasizing genes specifically active in excitatory and inhibitory neurons, and identified 120 key genes potentially responsible for these associations.
- * The findings highlight important biological processes related to neuronal function, suggesting overlaps between common and rare genetic variants in both schizophrenia and neurodevelopmental disorders, ultimately aiding future research on these conditions.
Goals: The aim was to measure bile acids in human saliva using a sensitive ultraperformance liquid chromatography tandem mass spectrometry analysis method to distinguish quantitative differences in refractory gastroesophageal reflux disease (GERD) patients as compared with proton pump inhibitor (PPI) controlled GERD patients and healthy volunteers.
Study: Human saliva samples were analyzed from 2 separate studies. The first a meal-controlled pilot, in which premeal and postmeal saliva samples were analyzed from 20 healthy subjects and 20 patients with GERD symptoms controlled by PPIs.
Article Synopsis
- Protein-coding de novo mutations (DNMs) contribute to neurodevelopmental disorders, but their role in schizophrenia (SCZ) risk is considered modest based on this study.
- Analysis of 2,772 SCZ-affected individuals revealed that while the overall DNM burden was modest, certain genes associated with SCZ were found to be highly expressed in the brain and overlapped with those linked to other neurodevelopmental disorders.
- None of the individual genes reached exome-wide significance, but 16 genes showed a significantly higher than expected rate of protein-truncating DNMs, indicating that larger studies are needed to fully understand the genetic risks for SCZ.
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.
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci.
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