Don ’t Worry, the Genetics of Obsessive-Compulsive Disorder Is Finally Catching Up

The advent and application of high-throughput sequencing is revolutionizing our understanding of the molecular neurobiology of diverse psychiatric disorders. Whole-genome sequencing, which targets the coding regions of the genome, and whole-exome sequencing are being applied to study multiple psychiatric disorders, including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder, schizophrenia, and Tourette ’s disorder, among others [(1–3); https://schema.broadinstitute.org]. These studies have demonstrated a role for ultrarare, deleterious, frequently de novo variation in each disorder, and have identified high-confidence genes, including more than 100 high-confidence ASD genes (2).
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Commentary Source Type: research

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Publication date: Available online 8 October 2020Source: Neurología (English Edition)Author(s): C. Peña-Salazar, M. López Cuiña, V. Chavarría, B. Robles Olmo
Source: Neurologia - Category: Neurology Source Type: research
Campbell Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by disruptions in social communication and behavioral flexibility. Both genetic and environmental factors contribute to ASD risk. Epidemiologic studies indicate that roadway vehicle exhaust and in utero exposure to diesel particulate matter (DPM) are associated with ASD. Using the Comparative Toxicogenomics Database (CTD), we identified genes connected to DPM exposure and ASD, extracted the known enhancers/promoters of the identified genes, and integrated this with Assay for Transposase Accessible Chromatin (ATAC-seq) data from DPM...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
Publication date: Available online 8 October 2020Source: Journal of Pharmacological SciencesAuthor(s): Yoshifumi Inoue, Kimiko Tsuchimori, Hiroshi Nakamura
Source: Journal of Pharmacological Sciences - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 8 October 2020Source: Stem Cell ResearchAuthor(s): Morad Kamand, Mirolyuba Ilieva, Sheena Louise Forsberg, Mads Thomassen, Åsa Fex Svenningsen, Morten Meyer, Tanja Maria Michel
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Publication date: 12 December 2019Source: Cell, Volume 179, Issue 7Author(s): Cross-Disorder Group of the Psychiatric Genomics ConsortiumSummaryGenetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette synd...
Source: Cell - Category: Cytology Source Type: research
Conclusions: Prefrontal gyrification is reduced in children with ADHD who also carry the DRD4 7R allele, and it relates to critical functional skills in the executive domain in carriers of the risk allele. More broadly, these effects highlight the importance of considering precise neurodevelopmental mechanisms through which risk alleles influence cortical neurogenesis and migration.IntroductionAttention deficit/hyperactivity disorder (ADHD) is a heterogeneous neuropsychiatric disorder characterized by developmentally inappropriate symptoms of inattention, impulsivity, and hyperactivity. The disorder is thought to affect ar...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
, Eating Disorder Working Group of the PGC, Major Depressive Disorder Working Group of the PGC, Obsessive Compulsive Disorders and Tourette Syndrome Working Group of the PGC, Schizophrenia CLOZUK, Substance Use Disorder Working Group of the PGC, Agrawal A, Børglum AD, Bulik CM, Daly MJ, Davis LK, Demontis D, Edenberg HJ, Grove J, Gelernter J, Neale BM, Pardiñas AF, Stahl E, Walters JTR, Walters R, Sullivan PF, Posthuma D, Polderman TJC PMID: 30334498 [PubMed - as supplied by publisher]
Source: Psychological Medicine - Category: Psychiatry Authors: Tags: Psychol Med Source Type: research
CONCLUSIONS: Given the unique character of each study design, the convergent findings for these eight psychiatric conditions suggest that heritability estimates are robust across different methods. The findings also highlight large differences in genetic and environmental influences between psychiatric disorders, providing future directions for etiological psychiatric research. PMID: 30221610 [PubMed - as supplied by publisher]
Source: Psychological Medicine - Category: Psychiatry Authors: Tags: Psychol Med Source Type: research
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting fromCNTNAP2 mutations. Deletions of bothCNTNAP2 alleles produced trunca...
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting fromCNTNAP2 mutations. Deletions of bothCNTNAP2 alleles produced trunca...
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
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