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Endophenotypes

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https://www.readbyqxmd.com/read/27926742/modeling-deficits-from-early-auditory-information-processing-to-psychosocial-functioning-in-schizophrenia
#1
Michael L Thomas, Michael F Green, Gerhard Hellemann, Catherine A Sugar, Melissa Tarasenko, Monica E Calkins, Tiffany A Greenwood, Raquel E Gur, Ruben C Gur, Laura C Lazzeroni, Keith H Nuechterlein, Allen D Radant, Larry J Seidman, Alexandra L Shiluk, Larry J Siever, Jeremy M Silverman, Joyce Sprock, William S Stone, Neal R Swerdlow, Debby W Tsuang, Ming T Tsuang, Bruce I Turetsky, David L Braff, Gregory A Light
Importance: Neurophysiologic measures of early auditory information processing (EAP) are used as endophenotypes in genomic studies and biomarkers in clinical intervention studies. Research in schizophrenia has established correlations among measures of EAP, cognition, clinical symptoms, and functional outcome. Clarifying these associations by determining the pathways through which deficits in EAP affect functioning would suggest when and where to therapeutically intervene. Objectives: To characterize the pathways from EAP to outcome and to estimate the extent to which enhancement of basic information processing might improve cognition and psychosocial functioning in schizophrenia...
December 7, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27926628/variants-of-tph2-interact-with-fast-visual-processing-as-assessed-by-metacontrast
#2
Margus Maksimov, Mariliis Vaht, Carolina Murd, Jaanus Harro, Talis Bachmann
Sensitivity to threatening or otherwise unpleasant visual stimuli has become a widely used measure of potential vulnerability/resilience. Basically, experiments using this strategy present brief stimuli, often followed by a mask, and individuals' sensitivity is measured. However, it has not been asked whether the individual differences in threat detection or adaptive resilience associated with genetic variability-related endophenotypes might be just a function of some basic visual functions involved in processing and reporting brief visual stimuli without any emotional content...
December 6, 2016: Neuroreport
https://www.readbyqxmd.com/read/27923415/association-of-body-mass-index-related-single-nucleotide-polymorphisms-with-psychiatric-disease-and-memory-performance-in-a-japanese-population
#3
Midori Ninomiya-Baba, Junko Matsuo, Daimei Sasayama, Hiroaki Hori, Toshiya Teraishi, Miho Ota, Kotaro Hattori, Takamasa Noda, Ikki Ishida, Shigenobu Shibata, Hiroshi Kunugi
OBJECTIVE: Obesity is a risk factor for psychiatric diseases. Recently, a number of single nucleotide polymorphisms (SNPs) have been shown to be related to body mass index (BMI). In this study, we investigated the association of BMI-related SNPs with psychiatric diseases and one of their endophenotypes, memory performance, in a Japanese population. METHODS: The subjects were 1624 patients with one of three psychiatric diseases (799 patients with major depressive disorder, 594 with schizophrenia, and 231 with bipolar disorder) and 1189 healthy controls...
December 7, 2016: Acta Neuropsychiatrica
https://www.readbyqxmd.com/read/27916709/insights-to-the-schizophrenia-continuum-a-systematic-review-of-saccadic-eye-movements-in-schizotypy-and-biological-relatives-of-schizophrenia-patients
#4
REVIEW
Jessica B Myles, Susan L Rossell, Andrea Phillipou, Elizabeth Thomas, Caroline Gurvich
Myles, J.B., S. Rossell, A. Phillipou, Thomas, E and C. Gurvich. A systematic review of saccadic eye movements across the schizophrenia continuum: Characterisation, pathophysiology and genetic associations. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2015. One of the cognitive hallmarks of schizophrenia is impaired eye movements, particularly for the antisaccade task. Less saccade research has been conducted in relation to the broader schizophrenia continuum, that is, people with high schizotypy or first-degree relatives of people with schizophrenia...
December 1, 2016: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/27913429/heritability-of-the-effective-connectivity-in-the-resting-state-default-mode-network
#5
Junhai Xu, Xuntao Yin, Haitao Ge, Yan Han, Zengchang Pang, Baolin Liu, Shuwei Liu, Karl Friston
The default mode network (DMN) is thought to reflect endogenous neural activity, which is considered as one of the most intriguing phenomena in cognitive neuroscience. Previous studies have found that key regions within the DMN are highly interconnected. Here, we characterized the genetic influences on causal or directed information flow within the DMN during the resting state. In this study, we recruited 46 pairs of twins and collected fMRI imaging data using a 3.0 T scanner. Dynamic causal modeling was conducted for each participant, and a structural equation model was used to calculate the heritability of DMN in terms of its effective connectivity...
November 23, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27908540/the-role-of-race-and-ethnicity-in-sleep-circadian-rhythms-and-cardiovascular-health
#6
REVIEW
Kieren J Egan, Kristen L Knutson, Alexandre C Pereira, Malcolm von Schantz
In recent years, strong evidence has emerged suggesting that insufficient duration, quality, and/or timing of sleep are associated with cardiovascular disease (CVD), and various mechanisms for this association have been proposed. Such associations may be related to endophenotypic features of the sleep homeostat and the circadian oscillator, or may be state-like effects of the environment. Here, we review recent literature on sleep, circadian rhythms and CVD with a specific emphasis on differences between racial/ethnic groups...
June 3, 2016: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/27903439/functional-connectivity-in-the-resting-brain-as-biological-correlate-of-the-affective-neuroscience-personality-scales
#7
Nadja Deris, Christian Montag, Martin Reuter, Bernd Weber, Sebastian Markett
According to Jaak Panksepp's Affective Neuroscience Theory and the derived self-report measure, the Affective Neuroscience Personality Scales (ANPS), differences in the responsiveness of primary emotional systems form the basis of human personality. In order to investigate neuronal correlates of personality, the underlying neuronal circuits of the primary emotional systems were analyzed in the present fMRI-study by associating the ANPS to functional connectivity in the resting brain. N = 120 healthy participants were invited for the present study...
November 26, 2016: NeuroImage
https://www.readbyqxmd.com/read/27903327/auditory-vigilance-and-working-memory-in-youth-at-familial-risk-for-schizophrenia-or-affective-psychosis-in-the-harvard-adolescent-family-high-risk-study
#8
Larry J Seidman, Andrea Pousada-Casal, Silvia Scala, Eric C Meyer, William S Stone, Heidi W Thermenos, Elena Molokotos, Jessica Agnew-Blais, Ming T Tsuang, Stephen V Faraone
BACKGROUND: The degree of overlap between schizophrenia (SCZ) and affective psychosis (AFF) has been a recurring question since Kraepelin's subdivision of the major psychoses. Studying nonpsychotic relatives allows a comparison of disorder-associated phenotypes, without potential confounds that can obscure distinctive features of the disorder. Because attention and working memory have been proposed as potential endophenotypes for SCZ and AFF, we compared these cognitive features in individuals at familial high-risk (FHR) for the disorders...
November 2016: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/27898075/maternal-high-fat-diet-prevents-developmental-programming-by-early-life-stress
#9
M Rincel, A L Lépinay, P Delage, J Fioramonti, V S Théodorou, S Layé, M Darnaudéry
Anxiety disorders and depression are well-documented in subjects exposed to adverse childhood events. Recently, maternal obesity and/or maternal consumption of high-fat diets (HFD) have been also proposed as risk factors for offspring mental health. Here using an animal model in rats, we explored the combinatorial effects of a maternal HFD (40% of energy from fat without impact on maternal weight; during gestation and lactation) and maternal separation (MS) in offspring. In the prefrontal cortex (PFC) of pups, MS led to changes in the expression of several genes such as Bdnf (brain derived neurotrophic factor), 5HT-r1a (serotonin receptor 1a) and Rest4 (neuron-restrictive silencer element, repressor element 1, silencing transcription factor (Rest), splicing variant 4)...
November 29, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27896285/rare-variants-in-optic-disc-area-gene-card10-enriched-in-primary-open-angle-glaucoma
#10
Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, Owen M Siggs, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Robert J Casson, John Landers, Richard Mills, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Kathryn P Burdon, Jamie E Craig
BACKGROUND: Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG. METHODS: Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27882644/sleep-wake-cycle-phenotypes-in-young-people-with-familial-and-non-familial-mood-disorders
#11
Jan Scott, Sharon Naismith, Ashlee Grierson, Joanne Carpenter, Daniel Hermens, Elizabeth Scott, Ian Hickie
OBJECTIVES: Converging evidence identifies that the offspring of parents with bipolar disorder (BD), individuals at clinical high risk of BD, and young people with recent onset BD may differ from other clinical cases or healthy controls in terms of sleep-wake profiles. However, it is possible that these differences may reflect current mental state, subtype of mood disorder, or familial traits. This study aimed to determine objective and subjective sleep-wake profiles in individuals aged 15-25 years with a current major depressive episode, in relation to familial traits...
November 24, 2016: Bipolar Disorders
https://www.readbyqxmd.com/read/27879657/screening-for-mutations-in-the-tbx1-gene-on-chromosome-22q11-2-in-schizophrenia
#12
Lieh-Yung Ping, Yang-An Chuang, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions. Haploinsufficiency of the TBX1 gene is associated with schizophrenia endophenotype. This study aimed to investigate whether the TBX1 gene is associated with schizophrenia. We searched for mutations in the TBX1 gene in 652 patients with schizophrenia and 567 control subjects using a re-sequencing method and conducted a reporter gene assay...
November 22, 2016: Genes
https://www.readbyqxmd.com/read/27872269/behavioral-biomarkers-of-schizophrenia-in-high-drinker-rats-a-potential-endophenotype-of-compulsive-neuropsychiatric-disorders
#13
Silvia V Navarro, Roberto Alvarez, M Teresa Colomina, Fernando Sanchez-Santed, Pilar Flores, Margarita Moreno
Psychogenic polydipsia, which is compulsive, non-regulatory fluid consumption, is present in 6%-20% of chronic psychiatric patients and frequently associated with the schizophrenia diagnosis. In the present study, we investigated the relation between schizophrenia-like symptoms and biomarkers with a compulsive drinking behavior phenotype in rats. Rats that were selected for low drinking vs high drinking behavior following schedule-induced polydipsia (SIP) were assessed in a latent inhibition (LI) paradigm using tone and electrical foot shock and in a spatial reversal learning task to evaluate behavioral inflexibility...
November 21, 2016: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/27872267/endophenotypes-epigenetics-polygenicity-and-more-irv-gottesman-s-dynamic-legacy
#14
David L Braff, Carol A Tamminga
First, we describe the hallmark contributions of Irv Gottesman's pioneering scholarship for schizophrenia research including concepts of polygenicity, gene × environment interactions, epigenetics and the endophenotype concept. Gottesman and colleagues' twin studies showed that genes, not social factors, mediate schizophrenia risk. He then showed that schizophrenia is highly polygenic. Next, he introduced the concept of epigenetics into schizophrenia research. Gottesman then introduced the quantitative endophenotype concept...
November 21, 2016: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/27870941/nonverbal-behaviors-are-associated-with-increased-vagal-activity-in-major-depressive-disorder-implications-for-the-polyvagal-theory
#15
Raquel A Fernandes, Juliana T Fiquer, Clarice Gorenstein, Lais Boralli Razza, Renério Fraguas, Lucas Borrione, Isabela M Benseñor, Paulo A Lotufo, Eduardo Miranda Dantas, Andre F Carvalho, André R Brunoni
BACKGROUND: Major depressive disorder (MDD) is associated with impairments in nonverbal behaviors (NVBs) and vagal activity. The polyvagal theory proposes that vagal activity regulates heart rate and NVBs by modulating a common anatomically and neurophysiologically discrete social engagement system. However, the association between these putative endophenotypes has not yet been explored. We hypothesize that in MDD, NVBs indicating positive affects and social interest and those indicating negative feelings and social disinterest could be associated with different patterns of vagal activity...
November 16, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27870451/preclinical-sex-differences-in-depression-and-antidepressant-response-implications-for-clinical-research
#16
REVIEW
Nikolaos Kokras, Christina Dalla
Women suffer from depression and anxiety disorders more often than men, and as a result they receive antidepressants to a greater extent. Sex differences in antidepressant response in humans have been modestly studied, and results have been controversial. At the same time, preclinical studies on animal models of depression and antidepressant response have provided insights with regard to sex differences that could be useful for the design and interpretation of future clinical trials. This Mini-Review discusses such sex-differentiated findings with regard to the presentation of depression, endophenotypes, and antidepressant response...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27869829/contribution-of-copy-number-variants-to-schizophrenia-from-a-genome-wide-study-of-41-321-subjects
#17
(no author information available yet)
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1...
November 21, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27867834/neurobiology-of-risk-for-bipolar-disorder
#18
REVIEW
Ayşegül Özerdem, Deniz Ceylan, Güneş Can
Bipolar disorder (BD) is a chronic mental illness which follows a relapsing and remitting course and requires lifetime treatment. The lack of biological markers for BD is a major difficulty in clinical practice. Exploring multiple endophenotypes to fit in multivariate genetic models for BD is an important element in the process of finding tools to facilitate early diagnosis, early intervention, prevention of new episodes, and follow-up of treatment response in BD. Reviewing of studies on neuroimaging, neurocognition, and biochemical parameters in populations with high genetic risk for the illness can yield an integrative perspective on the neurobiology of risk for BD...
2016: Current Treatment Options in Psychiatry
https://www.readbyqxmd.com/read/27866942/a-review-of-molecular-genetic-studies-of-neurocognitive-deficits-in-schizophrenia
#19
REVIEW
Gwyneth Zai, Trevor W Robbins, Barbara J Sahakian, James L Kennedy
Schizophrenia is a complex and debilitating illness with strong genetic loading. In line with its heterogeneous symptomatology, evidence suggests genetic etiologies for the phenotypes in schizophrenia. A search across endophenotypes has pointed towards consistent findings in its neurocognitive deficits. Extensive literature has demonstrated impaired cognition including executive function, attention, and memory in schizophrenia patients when compared to healthy subjects. This review (1) provides an overview of recent studies and (2) develops an up-to-date conceptualization of genetic variations influencing neurocognitive functions in schizophrenia patients...
November 17, 2016: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/27862270/familial-aggregation-of-parkinson-s-disease-may-affect-progression-of-motor-symptoms-and-dementia
#20
REVIEW
Johannes Jernqvist Gaare, Geir Olve Skeie, Charalampos Tzoulis, Jan Petter Larsen, Ole-Bjørn Tysnes
BACKGROUND: Familial aggregation has been described in PD of both early and late onset, but has not been studied in a true population-based sample. Moreover, little is known about its association with disease progression and endophenotypes. OBJECTIVES: The objectives of this work were to determine familial aggregation of idiopathic PD in a population-based cohort and study the association with clinical endophenotypes and disease progression. METHODS: We examined family history data from the Norwegian ParkWest study, a well-characterized, population-based cohort of incident PD patients and age-matched healthy controls...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
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