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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#1
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28304131/copy-number-variation-in-19-italian-multiplex-families-with-autism-spectrum-disorder-importance-of-synaptic-and-neurite-elongation-genes
#2
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico
Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K)...
March 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28190298/mir-149-and-mir-29c-as-candidates-for-bipolar-disorder-biomarkers
#3
Jason L Choi, Patricia F Kao, Elena Itriago, Yougen Zhan, James A Kozubek, Andrew G Hoss, Meredith G Banigan, Charles R Vanderburg, Amir H Rezvani, Jeanne C Latourelle, Howard Cabral, Ivana Delalle
Bipolar disorder (BD) is a common, recurring psychiatric illness with unknown pathogenesis. Recent studies suggest that microRNA (miRNA) levels in brains of BD patients are significantly altered, and these changes may offer insight into BD pathology or etiology. Previously, we observed significant alterations of miR-29c levels in extracellular vesicles (EVs) extracted from prefrontal cortex (Brodmann area 9, BA9) of BD patients. In this study, we show that EVs extracted from the anterior cingulate cortex (BA24), a crucial area for modulating emotional expression and affect, have increased levels of miR-149 in BD patients compared to controls...
February 12, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28139055/associations-between-neurodevelopmental-genes-neuroanatomy-and-ultra-high-risk-symptoms-of-psychosis-in-22q11-2-deletion-syndrome
#4
Carlie A Thompson, Jason Karelis, Frank A Middleton, Karen Gentile, Ioana L Coman, Petya D Radoeva, Rashi Mehta, Wanda P Fremont, Kevin M Antshel, Stephen V Faraone, Wendy R Kates
22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer...
January 31, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28304149/predicting-brain-structure-in-population-based-samples-with-biologically-informed-genetic-scores-for-schizophrenia
#5
Sandra Van der Auwera, Katharina Wittfeld, Elena Shumskaya, Janita Bralten, Marcel P Zwiers, A Marten H Onnink, Niccolo Usberti, Johannes Hertel, Henry Völzke, Uwe Völker, Norbert Hosten, Barbara Franke, Hans J Grabe
Schizophrenia is associated with brain structural abnormalities including gray and white matter volume reductions. Whether these alterations are caused by genetic risk variants for schizophrenia is unclear. Previous attempts to detect associations between polygenic factors for schizophrenia and structural brain phenotypes in healthy subjects have been negative or remain non-replicated. In this study, we used genetic risk scores that were based on the accumulated effect of selected risk variants for schizophrenia belonging to specific biological systems like synaptic function, neurodevelopment, calcium signaling, and glutamatergic neurotransmission...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27480393/investigating-shared-aetiology-between-type-2-diabetes-and-major-depressive-disorder-in-a-population-based-cohort
#6
Toni-Kim Clarke, Jana Obsteter, Lynsey S Hall, Caroline Hayward, Pippa A Thomson, Blair H Smith, Sandosh Padmanabhan, Lynne J Hocking, Ian J Deary, David J Porteous, Andrew M McIntosh
Type II diabetes (T2D) and major depressive disorder (MDD) are often co-morbid. The reasons for this co-morbidity are unclear. Some studies have highlighted the importance of environmental factors and a causal relationship between T2D and MDD has also been postulated. In the present study we set out to investigate the shared aetiology between T2D and MDD using Mendelian randomization in a population based sample, Generation Scotland: the Scottish Family Health Study (N = 21,516). Eleven SNPs found to be associated with T2D were tested for association with MDD and psychological distress (General Health Questionnaire scores)...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28224735/genetic-risk-variants-for-social-anxiety
#7
Murray B Stein, Chia-Yen Chen, Sonia Jain, Kevin P Jensen, Feng He, Steven G Heeringa, Ronald C Kessler, Adam Maihofer, Matthew K Nock, Stephan Ripke, Xiaoying Sun, Michael L Thomas, Robert J Ursano, Jordan W Smoller, Joel Gelernter
Social anxiety is a neurobehavioral trait characterized by fear and reticence in social situations. Twin studies have shown that social anxiety has a heritable basis, shared with neuroticism and extraversion, but genetic studies have yet to demonstrate robust risk variants. We conducted genomewide association analysis (GWAS) of subjects within the Army Study To Assess Risk and Resilience in Servicemembers (Army STARRS) to (i) determine SNP-based heritability of social anxiety; (ii) discern genetic risk loci for social anxiety; and (iii) determine shared genetic risk with neuroticism and extraversion...
March 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28224734/anxiety-genetics-dispatches-from-the-frontier
#8
Jordan W Smoller
Anxiety disorders are the most common class of psychiatric disorders and incur an enormous burden in terms of economic costs, disability and personal suffering. Despite their public health importance and documented heritability, genetic research aimed at identifying the genetic contributions to these disorders has had limited success, particularly in comparison to recent advances in the genetics of other major psychiatric disorders. The major factor contributing to this lagging progress has been a dearth of well-powered genomic studies...
March 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27346075/genetic-variation-in-the-endocannabinoid-system-and-response-to-cognitive-behavior-therapy-for-child-anxiety-disorders
#9
Kathryn J Lester, Jonathan R I Coleman, Susanna Roberts, Robert Keers, Gerome Breen, Susan Bögels, Cathy Creswell, Jennifer L Hudson, Anna McKinnon, Maaike Nauta, Ronald M Rapee, Silvia Schneider, Wendy K Silverman, Mikael Thastum, Polly Waite, Gro Janne H Wergeland, Thalia C Eley
Extinction learning is an important mechanism in the successful psychological treatment of anxiety. Individual differences in response and relapse following Cognitive Behavior Therapy may in part be explained by variability in the ease with which fears are extinguished or the vulnerability of these fears to re-emerge. Given the role of the endocannabinoid system in fear extinction, this study investigates whether genetic variation in the endocannabinoid system explains individual differences in response to CBT...
March 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27196537/the-genetics-of-anxiety-related-negative-valence-system-traits
#10
REVIEW
Jeanne E Savage, Chelsea Sawyers, Roxann Roberson-Nay, John M Hettema
NIMH's Research Domain Criteria (RDoC) domain of negative valence systems (NVS) captures constructs of negative affect such as fear and distress traditionally subsumed under the various internalizing disorders. Through its aims to capture dimensional measures that cut across diagnostic categories and are linked to underlying neurobiological systems, a large number of phenotypic constructs have been proposed as potential research targets. Since "genes" represent a central "unit of analysis" in the RDoC matrix, it is important for studies going forward to apply what is known about the genetics of these phenotypes as well as fill in the gaps of existing knowledge...
March 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27943641/genomic-variants-genes-and-pathways-of-alzheimer-s-disease-an-overview
#11
REVIEW
Adam C Naj, Gerard D Schellenberg
Alzheimer's disease (AD) (MIM: 104300) is a highly heritable disease with great complexity in its genetic contributors, and represents the most common form of dementia. With the gradual aging of the world's population, leading to increased prevalence of AD, and the substantial cost of care for those afflicted, identifying the genetic causes of disease represents a critical effort in identifying therapeutic targets. Here we provide a comprehensive review of genomic studies of AD, from the earliest linkage studies identifying monogenic contributors to early-onset forms of AD to the genome-wide and rare variant association studies of recent years that are being used to characterize the mosaic of genetic contributors to late-onset AD (LOAD), and which have identified approximately ∼20 genes with common variants contributing to LOAD risk...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27943640/the-discovery-of-lrrk2-p-r1441s-a-novel-mutation-for-parkinson-s-disease-adds-to-the-complexity-of-a-mutational-hotspot
#12
Ignacio F Mata, Marie Y Davis, Alexis N Lopez, Michael O Dorschner, Erica Martinez, Dora Yearout, Brenna A Cholerton, Shu-Ching Hu, Karen L Edwards, Thomas D Bird, Cyrus P Zabetian
No abstract text is available yet for this article.
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27943639/genetic-prion-disease-experience-of-a-rapidly-progressive-dementia-center-in-the-united-states-and-a-review-of-the-literature
#13
REVIEW
Leonel T Takada, Mee-Ohk Kim, Ross W Cleveland, Katherine Wong, Sven A Forner, Ignacio Illán Gala, Jamie C Fong, Michael D Geschwind
Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27770499/genetic-factors-in-neurodegenerative-diseases
#14
EDITORIAL
Debby W Tsuang, Thomas D Bird
No abstract text is available yet for this article.
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27174011/genetic-counseling-and-testing-for-huntington-s-disease-a-historical-review
#15
Martha A Nance
This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/26990251/unusually-long-duration-and-delayed-penetrance-in-a-family-with-ftd-and-mutation-in-mapt-v337m
#16
Kimiko Domoto-Reilly, Marie Y Davis, C Dirk Keene, Thomas D Bird
Mutations in the MAPT gene coding for the tau protein are one of the most common causes of familial frontotemporal dementia (FTD). In a previously described family with the V337M mutation in MAPT, we now report an affected woman who died at age 92 with a >40 year duration of symptoms, more than three times the mean disease duration in her family (13.8 years). Neuropathology showed the typical findings of a diffuse tauopathy. Conversely, her 67-year-old son with the same mutation remains asymptomatic more than 15 years beyond the mean age of onset in the family (51...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/26879907/adult-neurogenesis-and-neurodegenerative-diseases-a-systems-biology-perspective
#17
Emrin Horgusluoglu, Kelly Nudelman, Kwangsik Nho, Andrew J Saykin
New neurons are generated throughout adulthood in two regions of the brain, the olfactory bulb and dentate gyrus of the hippocampus, and are incorporated into the hippocampal network circuitry; disruption of this process has been postulated to contribute to neurodegenerative diseases including Alzheimer's disease and Parkinson's disease. Known modulators of adult neurogenesis include signal transduction pathways, the vascular and immune systems, metabolic factors, and epigenetic regulation. Multiple intrinsic and extrinsic factors such as neurotrophic factors, transcription factors, and cell cycle regulators control neural stem cell proliferation, maintenance in the adult neurogenic niche, and differentiation into mature neurons; these factors act in networks of signaling molecules that influence each other during construction and maintenance of neural circuits, and in turn contribute to learning and memory...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/26756273/genetics-of-psychosis-of-alzheimer-disease
#18
REVIEW
Chintan Shah, Mary Ann A DeMichele-Sweet, Robert A Sweet
Psychotic symptoms, comprised of delusions and hallucinations, occur in about half of individuals with Alzheimer disease (AD with psychosis, AD+P). These individuals have greater agitation, aggression, depression, functional impairment, and mortality than individuals without psychosis (AD-P). Although the exact etiopathogenesis of AD+P is unclear, the rapidly developing field of genomics continues to expand our understanding of this disease. Several independent studies have demonstrated familial aggregation and heritability of AD+P...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27943569/apoe-gene-and-neuropsychiatric-disorders-and-endophenotypes-a-comprehensive-review
#19
REVIEW
Diego A Forero, Sandra López-León, Yeimy González-Giraldo, Daniel R Dries, Angela J Pereira-Morales, Karen M Jiménez, Juan E Franco-Restrepo
The Apolipoprotein E (APOE) gene is one of the main candidates in neuropsychiatric genetics, with hundreds of studies carried out in order to explore the possible role of polymorphisms in the APOE gene in a large number of neurological diseases, psychiatric disorders, and related endophenotypes. In the current article, we provide a comprehensive review of the structural and functional aspects of the APOE gene and its relationship with brain disorders. Evidence from genome-wide association studies and meta-analyses shows that the APOE gene has been significantly associated with several neurodegenerative disorders...
December 12, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27870314/genetic-and-environmental-contributions-to-the-inverse-association-between-specific-autistic-traits-and-experience-seeking-in-adults
#20
Ángel Romero-Martínez, Luís Moya-Albiol, Anna A E Vinkhuyzen, Tinca J C Polderman
No abstract text is available yet for this article.
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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