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Psychiatric Genetics

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https://www.readbyqxmd.com/read/29167880/association-between-schizophrenia-related-polygenic-liability-and-the-occurrence-and-level-of-mood-incongruent-psychotic-symptoms-in-bipolar-disorder
#1
Judith Allardyce, Ganna Leonenko, Marian Hamshere, Antonio F Pardiñas, Liz Forty, Sarah Knott, Katherine Gordon-Smith, David J Porteous, Caroline Haywood, Arianna Di Florio, Lisa Jones, Andrew M McIntosh, Michael J Owen, Peter Holmans, James T R Walters, Nicholas Craddock, Ian Jones, Michael C O'Donovan, Valentina Escott-Price
Importance: Bipolar disorder (BD) overlaps schizophrenia in its clinical presentation and genetic liability. Alternative approaches to patient stratification beyond current diagnostic categories are needed to understand the underlying disease processes and mechanisms. Objective: To investigate the association between common-variant liability for schizophrenia, indexed by polygenic risk scores (PRSs), and psychotic presentations of BD. Design, Setting, and Participants: This case-control study in the United Kingdom used multinomial logistic regression to estimate differential PRS associations across categories of cases and controls...
November 22, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/29165573/an-emerging-role-for-epigenetic-factors-in-relation-to-executive-function
#2
Omar Ibrahim, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Executive function (EF) includes a range of decision-making and higher-order thinking processes. Although the genetic basis of EF has been studied and reviewed, epigenetic factors that influence EF are an emerging field of interest; here, we summarize the current research. Work relating to different word combinations of 'Executive Function' and 'Epigenetic' was identified through three academic search directories. Inclusion criteria were human populations, EF testing, epigenetic testing or genotyping related to epigenetic regulation...
November 20, 2017: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/29163739/obsessive-compulsive-disorder-in-a-19-year-old-female-adolescent-with-turner-syndrome
#3
Surinder S Moonga, Aaron Pinkhasov, Deepan Singh
Obsessive-compulsive disorder (OCD) in patients with Turner syndrome (TS) is an uncommon neuropsychiatric presentation that has not been well characterized in the scientific literature. Though no clear psychiatric component is syndromic to TS, the clinical manifestations of certain neuropsychiatric disorders, including mood, anxiety and eating disorders, have all been well documented in patients with TS. However, the presence of OCD in these patients has not been previously described. This report details a 19-year-old TS patient who presented with OCD since the age of 13, comorbid with several other psychiatric pathologies, including bipolar I disorder, anorexia nervosa and attention deficit hyperactivity disorder (ADHD)...
December 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29162184/in-the-eye-of-the-beholder-perceptions-of-neighborhood-adversity-and-psychotic-experiences-in-adolescence
#4
Joanne B Newbury, Louise Arseneault, Avshalom Caspi, Terrie E Moffitt, Candice L Odgers, Jessie R Baldwin, Helena M S Zavos, Helen L Fisher
Adolescent psychotic experiences increase risk for schizophrenia and other severe psychopathology in adulthood. Converging evidence implicates urban and adverse neighborhood conditions in the etiology of adolescent psychotic experiences, but the role of young people's personal perceptions of disorder (i.e., physical and social signs of threat) in their neighborhood is unknown. This was examined using data from the Environmental Risk Longitudinal Twin Study, a nationally representative birth cohort of 2,232 British twins...
December 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/29158582/the-camp-responsive-element-binding-creb-1-gene-increases-risk-of-major-psychiatric-disorders
#5
X Xiao, C Zhang, M Grigoroiu-Serbanescu, L Wang, L Li, D Zhou, T-F Yuan, C Wang, H Chang, Y Wu, Y Li, D-D Wu, Y-G Yao, M Li
Bipolar disorder (BPD), schizophrenia (SCZ) and unipolar major depressive disorder (MDD) are primary psychiatric disorders sharing substantial genetic risk factors. We previously reported that two single-nucleotide polymorphisms (SNPs) rs2709370 and rs6785 in the cAMP responsive element-binding (CREB)-1 gene (CREB1) were associated with the risk of BPD and abnormal hippocampal function in populations of European ancestry. In the present study, we further expanded our analyses of rs2709370 and rs6785 in multiple BPD, SCZ and MDD data sets, including the published Psychiatric Genomics Consortium (PGC) genome-wide association study, the samples used in our previous CREB1 study, and six additional cohorts (three new BPD samples, two new SCZ samples and one new MDD sample)...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158581/improved-ethical-guidance-for-the-return-of-results-from-psychiatric-genomics-research
#6
G Lázaro-Muñoz, M S Farrell, J J Crowley, D M Filmyer, R A Shaughnessy, R C Josiassen, P F Sullivan
There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important and medically actionable genomic findings (for example, pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29154800/the-use-of-model-fish-as-tools-for-research-the-biological-mechanisms-of-cooperative-behaviour-a-future-for-translational-research-concerning-social-anxiety-disorders
#7
REVIEW
Marta C Soares, Sónia C Cardoso, Tamires Dos Santos Carvalho, Caio Maximino
Human societies demand of its composing members the development of a wide array of social tools and strategies. A notable example is human outstanding ability to cooperate with others, in all its complex forms, depicting the reality of a highly demanding social framework in which humans need to be integrated as to attain physical and mental benefits. Considering the importance of social engagement, it's not entirely unexpected that most psychiatric disorders involve some disruption of normal social behaviour, ranging from an abnormal absence to a significant increase of social functioning...
November 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29152902/the-genetics-of-human-personality
#8
REVIEW
Sandra Sanchez-Roige, Joshua C Gray, James K MacKillop, Chi-Hua Chen, Abraham A Palmer
Personality traits are the relatively enduring patterns of thoughts, feelings, and behaviors that reflect the tendency to respond in certain ways under certain circumstances. Twin and family studies have demonstrated that personality traits are moderately heritable, and can predict various lifetime outcomes, including psychopathology. The Research Domain Criteria (RDoC) characterizes psychiatric diseases as extremes of normal tendencies, including specific personality traits. This implies that heritable variation in personality traits, such as neuroticism, would share a common genetic basis with psychiatric diseases, such as major depressive disorder (MDD)...
November 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#9
Mariam M Al Eissa, Alessia Fiorentino, Sally I Sharp, Niamh L O'Brien, Kate Wolfe, Giovanni Giaroli, David Curtis, Nicholas J Bass, Andrew McQuillin
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas-control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC-51-like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29144220/is-low-cognitive-functioning-a-predictor-or-consequence-of-major-depressive-disorder-a-test-in-two-longitudinal-birth-cohorts
#10
Jonathan D Schaefer, Matthew A Scult, Avshalom Caspi, Louise Arseneault, Daniel W Belsky, Ahmad R Hariri, Honalee Harrington, Renate Houts, Sandhya Ramrakha, Richie Poulton, Terrie E Moffitt
Cognitive impairment has been identified as an important aspect of major depressive disorder (MDD). We tested two theories regarding the association between MDD and cognitive functioning using data from longitudinal cohort studies. One theory, the cognitive reserve hypothesis, suggests that higher cognitive ability in childhood decreases risk of later MDD. The second, the scarring hypothesis, instead suggests that MDD leads to persistent cognitive deficits following disorder onset. We tested both theories in the Dunedin Study, a population-representative cohort followed from birth to midlife and assessed repeatedly for both cognitive functioning and psychopathology...
November 16, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/29144157/the-influence-of-sunlight-exposure-on-hospitalization-in-emergency-psychiatry
#11
Andrea Aguglia, Antonio Borsotti, Francesco Cuniberti, Gianluca Serafini, Mario Amore, Giuseppe Maina
OBJECTIVE: Environmental conditions during early life may affect individual vulnerability to both physiological changes as well as psychiatric conditions, especially in those with a genetic susceptibility. Among all factors, sunlight exposure intensity has a crucial effect on affecting circadian functions high-risk individuals. A potential explanation of this relation is that excessive sunlight exposure is able to impair biological mechanisms, possibly through the dysregulation of serotonin and/or melatonin production/metabolism...
November 16, 2017: Chronobiology International
https://www.readbyqxmd.com/read/29142105/the-nde1-genomic-locus-can-affect-treatment-of-psychiatric-illness-through-gene-expression-changes-related-to-microrna-484
#12
Nicholas J Bradshaw, Liisa Ukkola-Vuoti, Maiju Pankakoski, Amanda B Zheutlin, Alfredo Ortega-Alonso, Minna Torniainen-Holm, Vishal Sinha, Sebastian Therman, Tiina Paunio, Jaana Suvisaari, Jouko Lönnqvist, Tyrone D Cannon, Jari Haukka, William Hennah
Genetic studies of familial schizophrenia in Finland have observed significant associations with a group of biologically related genes, DISC1, NDE1, NDEL1, PDE4B and PDE4D, the 'DISC1 network'. Here, we use gene expression and psychoactive medication use data to study their biological consequences and potential treatment implications. Gene expression levels were determined in 64 individuals from 18 families, while prescription medication information has been collected over a 10-year period for 931 affected individuals...
November 2017: Open Biology
https://www.readbyqxmd.com/read/29138398/characterization-of-macrophages-from-schizophrenia-patients
#13
Paul R Ormel, Hans C van Mierlo, Manja Litjens, Miriam E van Strien, Elly M Hol, René S Kahn, Lot D de Witte
Genetic, epidemiological and post mortem studies have described an association between schizophrenia (SCZ) and the immune system. Microglia, the tissue-resident macrophages of the brain, not only play an essential role in inflammatory processes, but also in neurodevelopment and synapse refinement. It has therefore been hypothesized that aberrant functioning of these myeloid immune cells is involved in SCZ pathogenesis. Until now cellular research into the role of myeloid cells in SCZ has been limited to monocytes and functional assays are lacking...
November 14, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/29136284/patient-outcomes-of-genetic-counseling-assessing-the-impact-of-different-approaches-to-family-history-collection
#14
C Slomp, E Morris, A Inglis, A Lehman, J Austin
No studies have evaluated whether different modalities for collection of family history data influence patient outcomes of genetic counseling. We retrospectively compared outcomes of genetic counseling between patients whose family history (Fhx) was collected: a) via telephone prior to their appointment (FhxPrior), or b) during the appointment (FhxDuring). We used a psychiatric genetic counseling clinic database, where information about demographics and Fhx timing is recorded and patients complete the Genetic Counseling Outcomes Scale (GCOS, measuring empowerment) and Illness Management Self-Efficacy Scale (IMSES) immediately prior to (T1) and one-month after their appointment (T2)...
November 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29132028/dna-methylation-and-genetic-variation-of-the-angiotensin-converting-enzyme-ace-in-depression
#15
Dilys Lam, Marie-Laure Ancelin, Karen Ritchie, Richard Saffery, Joanne Ryan
BACKGROUND: Depression is one of the most prevalent psychiatric disorders, and in older persons is associated with high levels of comorbidity and under-treatment. Dysfunction of the hypothalamic-pituitary-adrenal (HPA) stress axis is consistently observed in the older population as well as depressed patients, with the angiotensin converting enzyme (ACE) a key regulator of the stress response. Epigenetic regulation of ACE may play an important role in HPA axis (dys)regulation. OBJECTIVE: To investigate ACE promoter methylation as a biomarker of late-life depression, and its association with genetic variation and cortisol secretion...
November 8, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29129507/the-use-of-polygenic-risk-scores-to-identify-phenotypes-associated-with-genetic-risk-of-schizophrenia-systematic-review
#16
REVIEW
Sumit Mistry, Judith R Harrison, Daniel J Smith, Valentina Escott-Price, Stanley Zammit
Studying the phenotypic manifestations of increased genetic liability for schizophrenia can increase our understanding of this disorder. Specifically, information from alleles identified in genome-wide association studies can be collapsed into a polygenic risk score (PRS) to explore how genetic risk is manifest within different samples. In this systematic review, we provide a comprehensive assessment of studies examining associations between schizophrenia PRS (SZ-PRS) and several phenotypic measures. We searched EMBASE, Medline and PsycINFO (from August 2009-14th March 2016) plus references of included studies, following PRISMA guidelines...
November 9, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/29129318/does-childhood-trauma-moderate-polygenic-risk-for-depression-a-meta-analysis-of-5765-subjects-from-the-psychiatric-genomics-consortium
#17
Wouter J Peyrot, Sandra Van der Auwera, Yuri Milaneschi, Conor V Dolan, Pamela A F Madden, Patrick F Sullivan, Jana Strohmaier, Stephan Ripke, Marcella Rietschel, Michel G Nivard, Niamh Mullins, Grant W Montgomery, Anjali K Henders, Andrew C Heat, Helen L Fisher, Erin C Dunn, Enda M Byrne, Tracy A Air, Bernhard T Baune, Gerome Breen, Douglas F Levinson, Cathryn M Lewis, Nick G Martin, Elliot N Nelson, Dorret I Boomsma, Hans J Grabe, Naomi R Wray, Brenda W J H Penninx
BACKGROUND: The heterogeneity of genetic effects on major depressive disorder (MDD) may be partly attributable to moderation of genetic effects by environment, such as exposure to childhood trauma (CT). Indeed, previous findings in two independent cohorts showed evidence for interaction between polygenic risk scores (PRSs) and CT, albeit in opposing directions. This study aims to meta-analyze MDD-PRS × CT interaction results across these two and other cohorts, while applying more accurate PRSs based on a larger discovery sample...
September 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29127340/hair-cortisol-in-twins-heritability-and-genetic-overlap-with-psychological-variables-and-stress-system-genes
#18
Liz Rietschel, Fabian Streit, Gu Zhu, Kerrie McAloney, Josef Frank, Baptiste Couvy-Duchesne, Stephanie H Witt, Tina M Binz, John McGrath, Ian B Hickie, Narelle K Hansell, Margaret J Wright, Nathan A Gillespie, Andreas J Forstner, Thomas G Schulze, Stefan Wüst, Markus M Nöthen, Markus R Baumgartner, Brian R Walker, Andrew A Crawford, Lucía Colodro-Conde, Sarah E Medland, Nicholas G Martin, Marcella Rietschel
Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors. However, whether HCC and psychological variables share genetic risk factors remains unclear. The aims of the present twin study were to: (i) assess the heritability of HCC; (ii) estimate the phenotypic and genetic correlation between HPA axis activity and the psychological variables perceived stress, depressive symptoms, and neuroticism; using formal genetic twin models and molecular genetic methods, i...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125980/molecular-insights-into-cortico-striatal-miscommunications-in-huntington-s-disease
#19
REVIEW
Matthew B Veldman, X William Yang
Huntington's disease (HD), a dominantly inherited neurodegenerative disease, is defined by its genetic cause, a CAG-repeat expansion in the HTT gene, its motor and psychiatric symptomology and primary loss of striatal medium spiny neurons (MSNs). However, the molecular mechanisms from genetic lesion to disease phenotype remain largely unclear. Mouse models of HD have been created that exhibit phenotypes partially recapitulating those in the patient, and specifically, cortico-striatal disconnectivity appears to be a shared pathogenic event shared by HD mouse models and patients...
November 7, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29125958/investigation-of-brain-science-and-neurological-psychiatric-disorders-using-genetically-modified-non-human-primates
#20
REVIEW
Hideyuki Okano, Noriyuki Kishi
Although mice have been the most frequently used experimental animals in many research fields due to well-established gene manipulation techniques, recent evidence has revealed that rodent models do not always recapitulate pathophysiology of human neurological and psychiatric diseases due to the differences between humans and rodents. The recent developments in gene manipulation of non-human primate have been attracting much attention in the biomedical research field, because non-human primates have more applicable brain structure and function than rodents...
November 7, 2017: Current Opinion in Neurobiology
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