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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

Suzanne Gonzalez, Erika Villa, Marco Rodriguez, Mercedes Ramirez, Juan Zavala, Regina Armas, Albana Dassori, Javier Contreras, Henriette Raventós, Deborah Flores, Alvaro Jerez, Alfonso Ontiveros, Humberto Nicolini, Michael Escamilla
We previously identified bipolar disorder (BD) susceptibility loci on 8q24, 14q32, and 2q12-14 in a genome-wide nonparametric linkage screen in a Latino cohort. We now perform a fine mapping analysis using a dense map of additional SNPs to identify BD susceptibility genes within these regions. One thousand nine hundred and thirty-eight individuals with Latino ancestry (880 individuals with BD Type I or Schizoaffective, Bipolar Type) from 416 Latino pedigrees from the United States, Mexico, Costa Rica, and Guatemala were genotyped with 3,074 SNPs to provide dense coverage of the 8q24 (11...
February 19, 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Jess Shade, Hilary Coon, Anna R Docherty
This article provides a review of the ethical considerations that drive research policy and practice related to the genetic study of suicide. As the tenth cause of death worldwide, suicide constitutes a substantial public health concern. Biometrical studies and population-based molecular genetic studies provide compelling evidence of the utility of investigating genetic underpinnings of suicide. International, federal, and institutional policies regulating research are explored through the lenses of the ethical principles of autonomy, beneficence, non-maleficence, and justice...
February 18, 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Teodor T Postolache, Laura Del Bosque-Plata, Serge Jabbour, Michael Vergare, Rongling Wu, Claudia Gragnoli
Schizophrenia (SCZ) and major depressive disorder (MDD) in treatment-naive patients are associated with increased risk for type 2 diabetes (T2D) and metabolic syndrome (MetS). SCZ, MDD, T2D, and MetS are often comorbid and their comorbidity increases cardiovascular risk: Some risk genes are likely co-shared by them. For instance, transcription factor 7-like 2 (TCF7L2) and proteasome 26S subunit, non-ATPase 9 (PSMD9) are two genes independently reported as contributing to T2D and SCZ, and PSMD9 to MDD as well...
February 6, 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Chelsea Sawyers, Thomas Ollendick, Melissa A Brotman, Daniel S Pine, Ellen Leibenluft, Dever M Carney, Roxann Roberson-Nay, John M Hettema
Fear and anxiety are conceptualized as responses to acute or potential threat, respectively. Adult twin studies found substantial interplay between genetic and environmental factors influencing fear disorders (phobias) and anxiety disorders. Research in children, however, has largely examined these factors independently. Thus, there exists a substantial knowledge gap regarding the underlying etiologic structure of these closely-related constructs during development. Symptom counts for five fear (criticism, the unknown, death, animal, medical) and four anxiety (generalized, panic, separation, social) dimensions were obtained for 373 twin pairs ages 9-14...
February 1, 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Maciej Trzaskowski, Divya Mehta, Wouter J Peyrot, David Hawkes, Daniel Davies, David M Howard, Kathryn E Kemper, Julia Sidorenko, Robert Maier, Stephan Ripke, Manuel Mattheisen, Bernhard T Baune, Hans J Grabe, Andrew C Heath, Lisa Jones, Ian Jones, Pamela A F Madden, Andrew M McIntosh, Gerome Breen, Cathryn M Lewis, Anders D Børglum, Patrick F Sullivan, Nicholas G Martin, Kenneth S Kendler, Douglas F Levinson, Naomi R Wray
Major depressive disorder (MDD) is clinically heterogeneous with prevalence rates twice as high in women as in men. There are many possible sources of heterogeneity in MDD most of which are not measured in a sufficiently comparable way across study samples. Here, we assess genetic heterogeneity based on two fundamental measures, between-cohort and between-sex heterogeneity. First, we used genome-wide association study (GWAS) summary statistics to investigate between-cohort genetic heterogeneity using the 29 research cohorts of the Psychiatric Genomics Consortium (PGC; N cases = 16,823, N controls = 25,632) and found that some of the cohort heterogeneity can be attributed to ascertainment differences (such as recruitment of cases from hospital vs...
February 1, 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Russell A Barkley, Karen Müller Smith, Mariellen Fischer
ADHD is associated with an elevated risk of mortality and reduced estimated life expectancy (ELE) by adulthood. Reduced life expectancy is substantially related to the trait of behavioral disinhibition; a correlate of both ADHD and of several dopamine genes related to dopamine signaling and metabolism. We therefore hypothesized that several ADHD risk genes related to dopamine might also be predictive of reduced ELE. Using a longitudinal study of 131 hyperactive children and 71 control cases followed to young adulthood, we examined whether several polymorphisms involving DRD4, DAT1, and DBH were related to ELE...
January 13, 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Christopher Hübel, Héléna A Gaspar, Jonathan R I Coleman, Hilary Finucane, Kirstin L Purves, Ken B Hanscombe, Inga Prokopenko, Mariaelisa Graff, Julius S Ngwa, Tsegaselassie Workalemahu, Paul F O'Reilly, Cynthia M Bulik, Gerome Breen
Anorexia nervosa (AN) occurs nine times more often in females than in males. Although environmental factors likely play a role, the reasons for this imbalanced sex ratio remain unresolved. AN displays high genetic correlations with anthropometric and metabolic traits. Given sex differences in body composition, we investigated the possible metabolic underpinnings of female propensity for AN. We conducted sex-specific GWAS in a healthy and medication-free subsample of the UK Biobank (n = 155,961), identifying 77 genome-wide significant loci associated with body fat percentage (BF%) and 174 with fat-free mass (FFM)...
December 28, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Hiba Alblooshi, Habiba Al Safar, Holly F Fisher, Heather J Cordell, Ahmed El Kashef, Hamad Al Ghaferi, Mansour Shawky, Stuart Reece, Gary K Hulse, Guan K Tay
Genome wide association studies (GWASs) have provided insights into the molecular basis of the disorder in different population. This study presents the first GWAS of substance use disorder (SUD) in patients from the United Arab Emirates (UAE). The aim was to identify genetic association(s) that may provide insights into the molecular basis of the disorder. The GWAS discovery cohort consisted of 512 (250 cases and 262 controls) male participants from the UAE. Controls with no prior history of SUD were available from the Emirates family registry...
December 16, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Shan Yu, Constance Chen, Yue Pan, Michael C Kurz, Elizabeth Datner, Phyllis L Hendry, Marc-Anthony Velilla, Christopher Lewandowski, Claire Pearson, Robert Domeier, Samuel A McLean, Sarah D Linnstaedt
Co-morbid chronic musculoskeletal pain (CMSP) and posttraumatic stress symptoms (PTSS) are frequent sequelae of motor vehicle collision, are associated with greater disability than either outcome alone, and are more prevalent in women than men. In the current study we assessed for evidence that gene transcripts originating from the X chromosome contribute to sex differences in vulnerability to CMSP and PTSS after motor vehicle collision. Nested samples were drawn from a longitudinal study of African American individuals, and CMSP (0-10 numeric rating scale) and PTSS (impact of events scale, revised) outcomes were assessed 6 months following motor vehicle collision...
December 11, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Ana Carolina Tahira, André Rocha Barbosa, Arthur Sant'Anna Feltrin, Vinicius Daguano Gastaldi, Victor Hugo Calegari de Toledo, José Geraldo de Carvalho Pereira, Bianca Cristina Garcia Lisboa, Viviane Neri de Souza Reis, Ana Cecília Feio Dos Santos, Mariana Maschietto, Helena Brentani
The male-biased prevalence of certain neurodevelopmental disorders and the sex-biased outcomes associated with stress exposure during gestation have been previously described. Here, we hypothesized that genes distinctively targeted by only one or both homologous proteins highly conserved across therian mammals, SOX3 and SRY, could induce sexual adaptive changes that result in a differential risk for neurodevelopmental disorders. ChIP-seq/chip data showed that SOX3/SRY gene targets were expressed in different brain cell types in mice...
December 9, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Amaranta Manrique de Lara, Liliana Soto-Gómez, Elisa Núñez-Acosta, Garbiñe Saruwatari-Zavala, Miguel E Rentería
Genome-wide association studies have revolutionized our understanding of the genetic architecture of complex traits and diseases over the last decade. This knowledge is enabling clinicians, researchers, and direct-to-consumer genetics companies to conduct disease susceptibility testing based on powerful methods such as polygenic risk scoring. However, these technologies raise a set of complex ethical, legal, social, and policy considerations. Here we review and discuss a series of ethical dilemmas associated with susceptibility genetic testing for the two most common late-onset neurodegenerative diseases, Alzheimer's and Parkinson's disease, including testing in asymptomatic individuals...
December 7, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Camillia Kong, Ilina Singh
Psychiatric genomics has the potential to radically improve the prevention and early intervention of serious mental and neurodevelopmental disorders worldwide. However, little work has been done on the ethics of psychiatric genomics-an oversight that could result in poor local uptake, reduced practical/clinical application, and ethical violations in this rapidly developing area of scientific research. As part of the Global Project of the Stanley Center for Psychiatric Research, the Global Initiative in Neuropsychiatric GenEthics (NeuroGenE) based at the University of Oxford aims to embed ethical inquiry within scientific investigation and engage with fundamental ethical questions around a psychiatric genomics approach to mental and neurodevelopmental disorder...
December 6, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Samuel C Lee, Thomas P Quinn, Jerry Lai, Sek Won Kong, Irva Hertz-Picciotto, Stephen J Glatt, Tamsyn M Crowley, Svetha Venkatesh, Thin Nguyen
Autism spectrum disorder (ASD) is a markedly heterogeneous condition with a varied phenotypic presentation. Its high concordance among siblings, as well as its clear association with specific genetic disorders, both point to a strong genetic etiology. However, the molecular basis of ASD is still poorly understood, although recent studies point to the existence of sex-specific ASD pathophysiologies and biomarkers. Despite this, little is known about how exactly sex influences the gene expression signatures of ASD probands...
December 6, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Timothy Vivian-Griffiths, Emily Baker, Karl M Schmidt, Matthew Bracher-Smith, James Walters, Andreas Artemiou, Peter Holmans, Michael C O'Donovan, Michael J Owen, Andrew Pocklington, Valentina Escott-Price
A major controversy in psychiatric genetics is whether nonadditive genetic interaction effects contribute to the risk of highly polygenic disorders. We applied a support vector machines (SVMs) approach, which is capable of building linear and nonlinear models using kernel methods, to classify cases from controls in a large schizophrenia case-control sample of 11,853 subjects (5,554 cases and 6,299 controls) and compared its prediction accuracy with the polygenic risk score (PRS) approach. We also investigated whether SVMs are a suitable approach to detecting nonlinear genetic effects, that is, interactions...
December 4, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Jerome C Foo, Fabian Streit, Josef Frank, Stephanie H Witt, Jens Treutlein, Bernhard T Baune, Susanne Moebus, Karl-Heinz Jöckel, Andreas J Forstner, Markus M Nöthen, Marcella Rietschel, Alexander Sartorius, Laura Kranaster
Electroconvulsive therapy (ECT) is the treatment of choice for severe and treatment-resistant depression; disorder severity and unfavorable treatment outcomes are shown to be influenced by an increased genetic burden for major depression (MD). Here, we tested whether ECT assignment and response/nonresponse are associated with an increased genetic burden for major depression (MD) using polygenic risk score (PRS), which summarize the contribution of disease-related common risk variants. Fifty-one psychiatric inpatients suffering from a major depressive episode underwent ECT...
December 2, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Bo Xiang, Bao-Zhu Yang, Hang Zhou, Henry Kranzler, Joel Gelernter
Alcohol dependence (AD) and nicotine dependence (ND) co-occur frequently (AD+ND). We integrated SNP-based, gene-based, and protein-protein interaction network analyses to identify shared risk genes or gene subnetworks for AD+ND in African Americans (AAs, N = 2,094) and European Americans (EAs, N = 1,207). The DSM-IV criterion counts for AD and ND were modeled as two dependent variables in a multivariate linear mixed model, and analyzed separately for the two populations. The most significant SNP was rs6579845 in EAs (p < 1...
November 28, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Edna Grünblatt, Zsofia Nemoda, Anna Maria Werling, Alexander Roth, Nora Angyal, Zsanett Tarnok, Hauke Thomsen, Triinu Peters, Anke Hinney, Johannes Hebebrand, Klaus-Peter Lesch, Marcel Romanos, Susanne Walitza
Wnt-signaling is one of the most abundant pathways involved in processes such as cell-proliferation, -polarity, and -differentiation. Altered Wnt-signaling has been linked with several neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD) as well as with cognitive functions, learning and memory. Particularly, lipoprotein receptor-related protein 5 (LRP5) or LRP6 coreceptors, responsible in the activation of the canonical Wnt-pathway, were associated with cognitive alterations in psychiatric disorders...
November 25, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Venuja Sriretnakumar, Ricardo Harripaul, John B Vincent, James L Kennedy, Joyce So
Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with standard psychotropic medications. This study tests the hypothesis that psychiatric populations are enriched for pathogenic variants associated with selected inborn errors of metabolism (IEMs). Using next-generation sequencing, 2046 psychiatric patients were screened for pathogenic variants in genes associated with four IEMs, Niemann-Pick disease type C (NPC), Wilson disease (WD), homocystinuria (HOM), and acute intermittent porphyria (AIP)...
January 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Steven A Skinner, Jonathan Merritt, David N Lieberman, Shannon Standridge, Timothy Feyma, Peter Heydemann, Sarika Peters, Robin Ryther, Mary Jones, Bernhard Suter, Walter E Kaufmann, Daniel G Glaze, Alan K Percy
Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls. It had been suspected that mutations in Methyl-CpG-binding protein 2 (MECP2) led to embryonic lethality in males, however such males have been reported. To enhance understanding of the phenotypic spectrum present in these individuals, we identified 30 males with MECP2 mutations in the RTT Natural History Study databases. A wide phenotypic spectrum was observed, ranging from severe neonatal encephalopathy to cognitive impairment...
January 2019: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Somayeh Kazeminasab, Ibrahim Ihsan Taskiran, Zohreh Fattahi, Niloofar Bazazzadegan, Masoumeh Hosseini, Maryam Rahimi, Morteza Oladnabi, Mohammad Haddadi, Arzu Celik, Hans-Hilger Ropers, Hossein Najmabadi, Kimia Kahrizi
The advent of high-throughput sequencing technologies has led to an exponential increase in the identification of novel disease-causing genes in highly heterogeneous diseases. A novel frameshift mutation in CNKSR1 gene was detected by Next-Generation Sequencing (NGS) in an Iranian family with syndromic autosomal recessive intellectual disability (ARID). CNKSR1 encodes a connector enhancer of kinase suppressor of Ras 1, which acts as a scaffold component for receptor tyrosine kinase in mitogen-activated protein kinase (MAPK) cascades...
December 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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