American Journal of Medical Genetics Part B: Neuropsychiatric Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Genome ‐wide association study of HIV‐associated neurocognitive disorder (HAND): A CHARTER group study
HIV‐associated neurocognitive disorder (HAND) often complicates HIV infection despite combination antiretroviral therapy (ART) and may be influenced by host genomics. We performed a genome‐wide association study (GWAS) of HAND in 1,050 CNS HIV Anti‐Retroviral Therapy Effects Research (CHARTER) Study participants. All participants underwent standardized, comprehensive neurocognitive, and neuromedical assessments to determine if they had cognitive impairment as assessed by the Global Deficit Score (GDS), and individuals with comorbidities that could confound diagnosis of HAND were excluded. Neurocognitive outcomes incl...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 1, 2017 Category: Genetics & Stem Cells Authors: Peilin Jia, Zhongming Zhao, Todd Hulgan, William S. Bush, David C. Samuels, Cinnamon S. Bloss, Robert K. Heaton, Ronald J. Ellis, Nicholas Schork, Christina M. Marra, Ann C. Collier, David B. Clifford, Benjamin B. Gelman, Ned Sacktor, Susan Morgello, Davi Tags: Research Article Source Type: research

Genome ‐wide meta‐analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence
Nicotine dependence (ND) has a reported heritability of 40–70%. Low‐coverage whole‐genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome‐wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed‐effect meta‐analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta‐analysis of African participants identified a significant and novel susceptibility signal (rs562472...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 1, 2017 Category: Genetics & Stem Cells Authors: Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R. Gizer, Cindy L. Ehlers, Kirk C. Wilhelmsen Tags: RESEARCH ARTICLE Source Type: research

MTHFR methylation moderates the impact of smoking on DNA methylation at AHRR for African American young adults
Smoking has been shown to have a large, reliable, and rapid effect on demethylation of AHRR, particularly at cg05575921, suggesting that methylation may be used as an index of cigarette consumption. Because the availability of methyl donors may also influence the degree of demethylation in response to smoking, factors that affect the activity of methylene tetrahydrofolate reductase (MTHFR), a key regulator of methyl group availability, may be of interest. In the current investigation, we examined the extent to which individual differences in methylation of MTHFR moderated the association between smoking and demethylation a...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 1, 2017 Category: Genetics & Stem Cells Authors: Steven R. H. Beach, Man Kit Lei, Mei Ling Ong, Gene H. Brody, Meeshanthini V. Dogan, Robert A. Philibert Tags: RESEARCH ARTICLE Source Type: research

Vitamin D ‐related genes are subjected to significant de novo mutation burdens in autism spectrum disorder
Vitamin D deficiency is a putative environmental risk factor for autism spectrum disorder (ASD). Besides, de novo mutations (DNMs) play essential roles in ASD. However, it remains unclear whether vitamin D‐related genes (VDRGs) carry a strong DNM burden. For the 943 reported VDRGs, we analyzed publicly‐available DNMs from 4,327 ASD probands and 3,191 controls. We identified 126 and 44 loss‐of‐function or deleterious missense mutations in the probands and the controls, respectively, representing a significantly higher DNM burden (p = 1.06 × 10−5; odds ratio = 2.11). Specifically, 18 of the VDRGs were ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 1, 2017 Category: Genetics & Stem Cells Authors: Jinchen Li, Lin Wang, Ping Yu, Leisheng Shi, Kun Zhang, Zhong Sheng Sun, Kun Xia Tags: RESEARCH ARTICLE Source Type: research

The genome ‐wide expression effects of escitalopram and its relationship to neurogenesis, hippocampal volume, and antidepressant response
Antidepressant‐induced hippocampal neurogenesis (AHN) is hypothesized to contribute to increases in hippocampal volume among major depressive disorder patients after long‐term treatment. Furthermore, rodent studies suggest AHN may be the cellular mechanism mediating the therapeutic benefits of antidepressants. Here, we perform the first investigation of genome‐wide expression changes associated with AHN in human cells. We identify gene expression networks significantly activated during AHN, and we perform gene set analyses to probe the molecular relationship between AHN, hippocampal volume, and antidepressant respons...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 1, 2017 Category: Genetics & Stem Cells Authors: Timothy R. Powell, Tytus Murphy, Simone de Jong, Sang Hyuck Lee, Katherine E. Tansey, Karen Hodgson, Rudolf Uher, Jack Price, Sandrine Thuret, Gerome Breen Tags: RESEARCH ARTICLE Source Type: research

Anxiety genetics: Dispatches from the frontier
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 31, 2017 Category: Genetics & Stem Cells Authors: Jordan W. Smoller Tags: ERRATUM Source Type: research

Can lncRNAs be indicators for the diagnosis of early onset or acute schizophrenia and distinguish major depressive disorder and generalized anxiety disorder? —A cross validation analysis
Depression and anxiety are apparent symptoms in the early onset or acute phase of schizophrenia (SZ), which complicate timely diagnosis and treatment. It is imperative to seek an indicator to distinguish schizophrenia from depressive and anxiety disorders. Using lncRNA microarray profiling and RT‐PCR, three up‐regulated lncRNAs in SZ, six down‐regulated lncRNAs in major depressive disorder (MDD), and three up‐regulated lncRNAs in generalized anxiety disorder (GAD) had been identified as potential biomarkers. All the lncRNAs were, then, cross‐validated in 40 SZ patients, 40 MDD patients, 40 GAD patients, and 40 no...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 28, 2017 Category: Genetics & Stem Cells Authors: Xuelian Cui, Wei Niu, Lingming Kong, Mingjun He, Kunhong Jiang, Shengdong Chen, Aifang Zhong, Wanshuai Li, Jim Lu, Liyi Zhang Tags: Research Article Source Type: research

Investigation of SHANK3 in schizophrenia
The postsynaptic scaffolding protein SHANK3 is essential for the normal function of glutamatergic synapses in the brain. Emerging evidence suggests that impaired plasticity of glutamatergic synapses contributes to the pathology of schizophrenia (SCZ). To investigate whether variants in the SHANK3 gene contribute to the etiology of SCZ, we sequenced SHANK3 in 500 affected individuals (cohort C1). In total, we identified 48 variants and compared them to European controls from the 1000 Genomes Project and the Exome Variant Server. Five variants showed significant differences in frequencies between patients and controls. We we...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 28, 2017 Category: Genetics & Stem Cells Authors: Ana de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, Maren Lang, Birgit Weiss, Ralph Roeth, Ina Giegling, Stefanie Heilmann ‐Heimbach, Andrea Hofmann, Dan Rujescu, Christine Fischer, Marcella Rietschel, Markus M. Nöthen, Gudrun A. Rappold, Tags: RESEARCH ARTICLE Source Type: research

ADH1B: From alcoholism, natural selection, and cancer to the human phenome
The ADH1B (Alcohol Dehydrogenase 1B (class I), Beta Polypeptide) gene and its best‐known functional alleles, Arg48His (rs1229984, ADH1B*2) and Arg370Cys (rs2066702, ADH1B*3), have been investigated in relation to many phenotypic traits; most frequently including alcohol metabolism and alcohol drinking behaviors, but also human evolution, liver function, cancer, and, recently, the comprehensive human phenome. To understand ADH1B functions and consequences, we provide here a bioinformatic analysis of its gene regulation and molecular functions, literature review of studies focused on this gene, and a discussion regarding f...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 27, 2017 Category: Genetics & Stem Cells Authors: Renato Polimanti, Joel Gelernter Tags: Review Article Source Type: research

Developmental trajectories for young children with 16p11.2 copy number variation
Copy number variation at 16p11.2 is associated with diverse phenotypes but little is known about the early developmental trajectories and emergence of the phenotype. This longitudinal study followed 56 children with the 16p11.2 BP4‐BP5 deletion or duplication between the ages of 6 months and 8 years with diagnostic characterization and dimensional assessment across cognitive, adaptive, and behavioral domains. Linear mixed modeling revealed distinct developmental trajectories with deletions showing VIQ gains but declines in motor and social abilities while duplications showed VIQ gains and steady development across other ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 27, 2017 Category: Genetics & Stem Cells Authors: Raphael Bernier, Caitlin M. Hudac, Qixuan Chen, Chubing Zeng, Arianne Stevens Wallace, Jennifer Gerdts, Rachel Earl, Jessica Peterson, Anne Wolken, Alana Peters, Ellen Hanson, Robin P. Goin ‐Kochel, Stephen Kanne, LeeAnne Green Snyder, Wendy K. Chung, Tags: Research Article Source Type: research

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
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: t...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 23, 2017 Category: Genetics & Stem Cells Authors: 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, Tags: Research Article Source Type: research

Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes
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). Causal or ASD‐relevant CNVs were detected in 36.6% (15/41) ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 17, 2017 Category: Genetics & Stem Cells Authors: Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M. Persico Tags: RESEARCH ARTICLE Source Type: research

Predicting brain structure in population ‐based samples with biologically informed genetic scores for schizophrenia
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. We hypothesized that this “biologically informed” approach would provide the missing link between genetic risk for schizophrenia and brain structural phenotypes. We applied whole‐brain voxel‐based morphometry (VBM) analyses in two population‐based target samples and subsequent regions of interest (ROIs) analyses in an independent replication sample (...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 16, 2017 Category: Genetics & Stem Cells Authors: Sandra Van der Auwera, Katharina Wittfeld, Elena Shumskaya, Janita Bralten, Marcel P. Zwiers, A. Marten H. Onnink, Niccolo Usberti, Johannes Hertel, Henry V ölzke, Uwe Völker, Norbert Hosten, Barbara Franke, Hans J. Grabe Tags: Research Article Source Type: research

Issue Information ‐ TOC
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 16, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 3, April 2017
COVER FIGURE The cover image, by Christian G. Bouwkamp et al., is based on the Research Article. A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis, DOI: 10.1002/ajmg.b.32465. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - March 16, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research