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Endophenotypes

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https://www.readbyqxmd.com/read/29022762/polymorphism-rs11656696-in-gas7-is-not-associated-with-primary-open-angle-glaucoma-in-a-saudi-cohort
#1
Altaf A Kondkar, Taif A Azad, Faisal A Almobarak, Hatem Kalantan, Tahira Sultan, Saleh A Al-Obeidan, Khaled K Abu-Amero
AIMS: To conduct a case-control study to investigate the association between the polymorphism rs11656696 located in the growth arrest-specific 7 gene on human chromosome 17p13.1 and primary open angle glaucoma (POAG). METHODS: The polymorphism rs11656696 was genotyped using the TaqMan(®) assay in 187 subjects comprising 92 unrelated POAG cases and 95 controls of Saudi Arabian origin. RESULTS: Association analysis between cases and controls revealed no significant genotype distribution under additive (p = 0...
October 12, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29020651/is-negative-self-referent-bias-an-endophenotype-for-depression-an-fmri-study-of-emotional-self-referent-words-in-twins-at-high-vs-low-risk-of-depression
#2
K W Miskowiak, J E Larsen, C J Harmer, H R Siebner, L V Kessing, J Macoveanu, M Vinberg
BACKGROUND: Negative cognitive bias and aberrant neural processing of self-referent emotional words seem to be trait-marks of depression. However, it is unclear whether these neurocognitive changes are present in unaffected first-degree relatives and constitute an illness endophenotype. METHODS: Fifty-three healthy, never-depressed monozygotic or dizygotic twins with a co-twin history of depression (high-risk group: n = 26) or no first-degree family history of depression (low-risk group: n = 27) underwent neurocognitive testing and functional magnetic imaging (fMRI) as part of a follow-up cohort study...
October 3, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28987512/genes-linking-mitochondrial-function-cognitive-impairment-and-depression-are-associated-with-endophenotypes-serving-precision-medicine
#3
Peter Petschner, Xenia Gonda, Daniel Baksa, Nora Eszlari, Michael Trivaks, Gabriella Juhasz, Gyorgy Bagdy
Mitochondria densely populate cells in central nervous system providing essential energy for neurons and influencing synaptic plasticity. Harm to these organelles can impair cognitive performance through damaged neurotransmission and altered Ca(2+) homeostasis. Impaired cognition could be one underlying factor which can characterize major depressive disorder, a huge burden for society marked by depressed mood and anhedonia. A growing body of evidence binds mitochondrial dysfunctions with the disease. Cognitive disturbances with different severity are also observable in several patients, suggesting that damage or inherited alterations of mitochondria may have an important role in depression...
October 5, 2017: Neuroscience
https://www.readbyqxmd.com/read/28987266/the-genetics-of-multiple-sclerosis-from-0-to-200-in-50-years
#4
REVIEW
Sergio E Baranzini, Jorge R Oksenberg
Multiple sclerosis (MS) is a common autoimmune disease that targets myelin in the central nervous system (CNS). Multiple genome-wide association studies (GWAS) over the past 10 years have uncovered more than 200 loci that independently contribute to disease pathogenesis. As with many other complex diseases, risk of developing MS is driven by multiple common variants whose biological effects are not immediately clear. Here, we present a historical perspective on the progress made in MS genetics and discuss current work geared towards creating a more complete model that accurately represents the genetic landscape of MS susceptibility...
October 5, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28982554/the-genetics-of-endophenotypes-of-neurofunction-to-understand-schizophrenia-genus-consortium-a-collaborative-cognitive-and-neuroimaging-genetics-project
#5
Gabriëlla A M Blokland, Elisabetta C Del Re, Raquelle I Mesholam-Gately, Jorge Jovicich, Joey W Trampush, Matcheri S Keshavan, Lynn E DeLisi, James T R Walters, Jessica A Turner, Anil K Malhotra, Todd Lencz, Martha E Shenton, Aristotle N Voineskos, Dan Rujescu, Ina Giegling, René S Kahn, Joshua L Roffman, Daphne J Holt, Stefan Ehrlich, Zora Kikinis, Paola Dazzan, Robin M Murray, Marta Di Forti, Jimmy Lee, Kang Sim, Max Lam, Rick P F Wolthusen, Sonja M C de Zwarte, Esther Walton, Donna Cosgrove, Sinead Kelly, Nasim Maleki, Lisa Osiecki, Marco M Picchioni, Elvira Bramon, Manuela Russo, Anthony S David, Valeria Mondelli, Antje A T S Reinders, M Aurora Falcone, Annette M Hartmann, Bettina Konte, Derek W Morris, Michael Gill, Aiden P Corvin, Wiepke Cahn, New Fei Ho, Jian Jun Liu, Richard S E Keefe, Randy L Gollub, Dara S Manoach, Vince D Calhoun, S Charles Schulz, Scott R Sponheim, Donald C Goff, Stephen L Buka, Sara Cherkerzian, Heidi W Thermenos, Marek Kubicki, Paul G Nestor, Erin W Dickie, Evangelos Vassos, Simone Ciufolini, Tiago Reis Marques, Nicolas A Crossley, Shaun M Purcell, Jordan W Smoller, Neeltje E M van Haren, Timothea Toulopoulou, Gary Donohoe, Jill M Goldstein, Larry J Seidman, Robert W McCarley, Tracey L Petryshen
BACKGROUND: Schizophrenia has a large genetic component, and the pathways from genes to illness manifestation are beginning to be identified. The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) Consortium aims to clarify the role of genetic variation in brain abnormalities underlying schizophrenia. This article describes the GENUS Consortium sample collection. METHODS: We identified existing samples collected for schizophrenia studies consisting of patients, controls, and/or individuals at familial high-risk (FHR) for schizophrenia...
October 3, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28981847/familial-risk-and-a-genome-wide-supported-drd2-variant-for-schizophrenia-predict-lateral-prefrontal-amygdala-effective-connectivity-during-emotion-processing
#6
Tiziana Quarto, Isabella Paparella, Davide De Tullio, Giovanna Viscanti, Leonardo Fazio, Paolo Taurisano, Raffaella Romano, Antonio Rampino, Rita Masellis, Teresa Popolizio, Pierluigi Selvaggi, Giulio Pergola, Alessandro Bertolino, Giuseppe Blasi
The brain functional mechanisms translating genetic risk into emotional symptoms in schizophrenia (SCZ) may include abnormal functional integration between areas key for emotion processing, such as the amygdala and the lateral prefrontal cortex (LPFC). Indeed, investigation of these mechanisms is also complicated by emotion processing comprising different subcomponents and by disease-associated state variables. Here, our aim was to investigate the relationship between risk for SCZ and effective connectivity between the amygdala and the LPFC during different subcomponents of emotion processing...
September 16, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28981546/recapitulation-of-ayurveda-constitution-types-by-machine-learning-of-phenotypic-traits
#7
Pradeep Tiwari, Rintu Kutum, Tavpritesh Sethi, Ankita Shrivastava, Bhushan Girase, Shilpi Aggarwal, Rutuja Patil, Dhiraj Agarwal, Pramod Gautam, Anurag Agrawal, Debasis Dash, Saurabh Ghosh, Sanjay Juvekar, Mitali Mukerji, Bhavana Prasher
In Ayurveda system of medicine individuals are classified into seven constitution types, "Prakriti", for assessing disease susceptibility and drug responsiveness. Prakriti evaluation involves clinical examination including questions about physiological and behavioural traits. A need was felt to develop models for accurately predicting Prakriti classes that have been shown to exhibit molecular differences. The present study was carried out on data of phenotypic attributes in 147 healthy individuals of three extreme Prakriti types, from a genetically homogeneous population of Western India...
2017: PloS One
https://www.readbyqxmd.com/read/28971736/genetic-analysis-for-cognitive-flexibility-in-trail-making-test-in-attention-deficit-hyperactivity-disorder-patients-from-snp-gene-to-pathway
#8
Kunlin Zhang, Zili Fan, Yufeng Wang, Stephen V Faraone, Li Yang, Suhua Chang
OBJECTIVES: Investigation of the genetic basis of endophenotype and analysis the pathways with multiple genes of small effects might increase the understanding of the genetic basis of attention deficit hyperactivity disorder (ADHD). Here we aimed to explore the genetic basis of cognitive flexibility in ADHD at SNP, gene and pathway level. METHODS: The Trail-Making Test (TMT) was used to test the cognitive flexibility of 788 ADHD patients. A genome-wide association analysis of cognitive flexibility was conducted for 644,166 single nucleotide polymorphisms (SNPs)...
October 3, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28971403/spontaneous-neuronal-network-persistent-activity-in-the-neocortex-a-n-endo-phenotype-of-brain-patho-physiology
#9
Pavlos Rigas, Leonidas J Leontiadis, Panagiotis Tsakanikas, Irini Skaliora
Abnormal synaptic homeostasis in the cerebral cortex represents a risk factor for both psychiatric and neurodegenerative disorders, from autism and schizophrenia to Alzheimer's disease. Neurons via synapses form recurrent networks that are intrinsically active in the form of oscillating activity, visible at increasingly macroscopic neurophysiological levels: from single cell recordings to the local field potentials (LFPs) to the clinically relevant electroencephalography (EEG). Understanding in animal models the defects at the level of neural circuits is important in order to link molecular and cellular phenotypes with behavioral phenotypes of neurodevelopmental and/or neurodegenerative brain disorders...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28966548/genome-wide-linkage-and-association-analysis-of-primary-open-angle-glaucoma-endophenotypes-in-the-norfolk-island-isolate
#10
Elizabeth Matovinovic, Pik Fang Kho, Rodney A Lea, Miles C Benton, David A Eccles, Larisa M Haupt, Alex W Hewitt, Justin C Sherwin, David A Mackey, Lyn R Griffiths
PURPOSE: Primary open-angle glaucoma (POAG) refers to a group of heterogeneous diseases involving optic nerve damage. Two well-established risk factors for POAG are elevated intraocular pressure (IOP) and a thinner central corneal thickness (CCT). These endophenotypes exhibit a high degree of heritability across populations. Large-scale genome-wide association studies (GWASs) of outbred populations have robustly implicated several susceptibility gene variants for both IOP and CCT. Despite this progress, a substantial amount of genetic variance remains unexplained...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28966148/brain-behavior-relationships-in-externalizing-p3-amplitude-reduction-reflects-deficient-inhibitory-control
#11
Grace M Brennan, Arielle R Baskin-Sommers
The use of endophenotypes to classify individuals at risk for or suffering from psychopathology has been criticized for lacking specificity and predictive utility. This issue is apparent in research on externalizing, a heritable predisposition to disinhibitory psychopathology and personality traits. Numerous studies have shown that P3 amplitude reduction (P3AR) reliably reflects externalizing, implicating P3AR as a candidate endophenotype for externalizing psychopathology. However, this endophenotype has not been connected directly to a key deficit in executive function (e...
September 28, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28966076/sleep-apnea-metabolic-disease-and-the-cutting-edge-of-therapy
#12
Matthew Light, Karen McCowen, Atul Malhotra, Omar A Mesarwi
Obstructive sleep apnea (OSA) is common, and many cross-sectional and longitudinal studies have established OSA as an independent risk factor for the development of a variety of adverse metabolic disease states, including hypertension, insulin resistance, type 2 diabetes, nonalcoholic fatty liver disease, dyslipidemia, and atherosclerosis. Nasal continuous positive airway pressure (CPAP) has long been the mainstay of therapy for OSA, but definitive studies demonstrating the efficacy of CPAP in improving metabolic outcomes, or in reducing incident disease burden, are lacking; moreover, CPAP has variable rates of adherence...
September 28, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28965072/dysregulation-of-aversive-signaling-pathways-a-novel-circuit-endophenotype-for-pain-and-anxiety-disorders
#13
REVIEW
Li-Feng Yeh, Mayumi Watanabe, Jessica Sulkes-Cuevas, Joshua P Johansen
Aversive experiences activate dedicated neural instructive pathways which trigger memory formation and change behavior. The strength of these aversive memories and the degree to which they alter behavior is proportional to the intensity of the aversive experience. Dysregulation of aversive learning circuits can lead to psychiatric pathology. Here we review recent findings elucidating aversive instructive signaling circuits for fear conditioning. We then examine how chronic pain as well as stress and anxiety disrupt these circuits and the implications this has for understanding and treating psychiatric disease...
September 28, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28964790/electrocortical-measures-of-information-processing-biases-in-social-anxiety-disorder-a-review
#14
REVIEW
Anita Harrewijn, Louis A Schmidt, P Michiel Westenberg, Alva Tang, Melle J W van der Molen
Social anxiety disorder (SAD) is characterized by information processing biases, however, their underlying neural mechanisms remain poorly understood. The goal of this review was to give a comprehensive overview of the most frequently studied EEG spectral and event-related potential (ERP) measures in social anxiety during rest, anticipation, stimulus processing, and recovery. A Web of Science search yielded 35 studies reporting on electrocortical measures in individuals with social anxiety or related constructs...
September 28, 2017: Biological Psychology
https://www.readbyqxmd.com/read/28964735/voluntary-running-influences-the-efficacy-of-fluoxetine-in-a-model-of-postpartum-depression
#15
Aarthi R Gobinath, Robin J Richardson, Carmen Chow, Joanna L Workman, Stephanie E Lieblich, Alasdair M Barr, Liisa A M Galea
Postpartum depression affects approximately 15% of mothers. Unfortunately, treatment options for postpartum depression are limited. Pharmacological antidepressants such as fluoxetine (FLX) can be controversial due to inconclusive evidence of efficacy during the postpartum and concerns of neonatal exposure to antidepressants. Alternatively, non-pharmacological antidepressants such as exercise may be less controversial but its efficacy in postpartum depression is unclear. To investigate this, we treated rat dams daily with high levels of corticosterone (CORT; 40 mg/kg), to induce a depressive-like phenotype, or oil (vehicle for CORT) during the postpartum period...
September 28, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28949048/regional-analysis-and-genetic-association-of-nigrostriatal-degeneration-in-lewy-body-disease
#16
Koji Kasanuki, Michael G Heckman, Nancy N Diehl, Melissa E Murray, Shunsuke Koga, Alexandra Soto, Owen A Ross, Dennis W Dickson
BACKGROUND: A number of genetic loci are associated with risk for Parkinson's disease (PD) based on genome-wide association studies; however, the relationship between genetic variants and nigrostriatal degeneration, which is the structural correlate of parkinsonism, has not been reported. OBJECTIVES: We quantified nigrostriatal dopaminergic integrity with image analysis of putaminal tyrosine hydroxylase immunoreactivity in 492 brains with Lewy body disease and used this pathologic endophenotype to explore possible association with PD genetic variants...
September 26, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28948093/the-pioneering-contributions-of-irving-gottesman-an-appreciation
#17
Keith H Nuechterlein
Irving Gottesman was one of the leading psychopathologists and behavior geneticists of our time, greatly influencing our basic conceptualization of the transmission of schizophrenia and other major mental disorders in ways that impacted research programs around the world. Here we highlight his landmark twin studies of schizophrenia, his introduction of the concept of endophenotypes, and his role in providing the conceptual base for vulnerability/stress models of schizophrenia. His ability to influence our basic assumptions about the nature of genetic factors, environmental factors, and their interaction in the onset and course of major mental disorders was truly remarkable...
2017: Clinical Psychological Science
https://www.readbyqxmd.com/read/28943719/reciprocal-moderation-by-toxoplasma-gondii-seropositivity-and-blood-phenylalanine-tyrosine-ratio-of-their-associations-with-trait-aggression
#18
Ashwin Jacob Mathai, Christopher A Lowry, Thomas B Cook, Lisa A Brenner, Lena Brundin, Maureen W Groer, Xiaoqing Peng, Ina Giegling, Annette M Hartmann, Bettina Konte, Marion Friedl, Dietmar Fuchs, Dan Rujescu, Teodor T Postolache
We previously reported that trait aggression, proposed as an endophenotype for suicidal behavior, is positively associated with Toxoplasma gondii (T. gondii) seropositivity in females, but not in males. Additionally, older males seropositive for T. gondii had lower scores on measures of trait aggression, including self-aggression. Trait aggression may be influenced by dopaminergic signaling, which is known to be moderated by gender and age, and potentially enhanced in T. gondii positives through the intrinsic production of dopamine by the microorganism...
December 2016: Pteridines
https://www.readbyqxmd.com/read/28938184/preliminary-evidence-that-reactivity-to-uncertain-threat-is-an-endophenotype-for-alcohol-use-disorder
#19
Stephanie M Gorka, Stewart A Shankman
BACKGROUND: Having an exaggerated reactivity to threats that are uncertain (U-threat) may facilitate the initiation and maintenance of excessive alcohol use in some individuals. This abnormality may not just be a concomitant for alcohol use disorder (AUD), but also an endophenotype for AUD. METHOD: The aim of the current study was therefore to provide a preliminary test of whether U-threat is an endophenotype for AUD using several of the endophenotype criteria outlined by Gottesman and Gould (2003)...
September 14, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28935223/testing-the-effects-of-adolescent-alcohol-use-on-adult-conflict-related-theta-dynamics
#20
Jeremy Harper, Stephen M Malone, William G Iacono
OBJECTIVE: Adolescent alcohol use (AAU) is associated with brain anomalies, but less is known about long-term neurocognitive effects. Despite theoretical models linking AAU to diminished cognitive control, empirical work testing this relationship with specific cognitive control neural correlates (e.g., prefrontal theta-band EEG dynamics) remains scarce. A longitudinal twin design was used to test the hypothesis that greater AAU is associated with reduced conflict-related EEG theta-band dynamics in adulthood, and to examine the genetic/environmental etiology of this association...
September 9, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
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