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Endophenotypes

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https://www.readbyqxmd.com/read/28818755/biochemical-abnormalities-in-basal-ganglia-and-executive-dysfunction-in-acute-and-euthymic-episode-patients-with-bipolar-disorder-a-proton-magnetic-resonance-spectroscopy-study
#1
Shunkai Lai, Shuming Zhong, Xiaoxiao Liao, Ying Wang, Jingyu Huang, Shanhong Zhang, Yao Sun, Hui Zhao, Yanbin Jia
BACKGROUND: Recent studies found abnormal biochemical metabolism and executive cognitive deficits in acute bipolar disorder (BD). However, the evidence concerning in euthymic BD is limited. Thus, a comparison between acute and euthymic BD is conductive to better understanding the association between cognition and the outcome of neuroimaging. This study sought to investigate the relationship between the executive function and the biochemical metabolism in acute- and euthymic-episode BD patients and delineate the prominent endophenotype of BD...
July 25, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28815874/white-matter-alterations-associate-with-onset-symptom-dimension-in-obsessive-compulsive-disorder
#2
Irene Bollettini, Mario Gennaro Mazza, Laura Muzzarelli, Sara Dallaspezia, Sara Poletti, Benedetta Vai, Enrico Smeraldi, Francesco Benedetti
AIM: The high heterogeneity of obsessive-compulsive disorder is best described by a multidimensional model involving symptom dimensions. Our study aimed at investigating white matter alterations associated with obsessive-compulsive disorder focusing on the impact of long lasting effect of symptom dimensions assessed at onset of the illness. Furthermore, we investigate white matter alterations associated with this disorder controlling for the impact of medications and for the prevailing current symptom dimension...
August 16, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28813255/parenting-intervention-effects-on-children-s-externalizing-behavior-the-moderating-role-of-genotype-and-temperament
#3
REVIEW
Geertjan Overbeek
Recent research suggests that children's heightened susceptibility to parenting may have a (poly)genetic basis, and may be grounded in children's temperament. However, much current evidence is of a preliminary-correlational-nature. Because in correlational designs alternative explanations for gene-environment (G×E) or temperament-environment (T×E) interactions cannot be discounted, it is pivotal to conduct experimental studies in which parenting is actively manipulated. Based on data from a recently conducted randomized trial (n=387) of the Incredible Years parenting intervention, experimental evidence is provided for G×E and T×E interactions in an at-risk population of children aged 4-8 years...
June 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/28812274/oxytocin-and-anxiety-disorders
#4
Michael G Gottschalk, Katharina Domschke
In the present chapter, we review the literature focusing on oxytocin (OT)-centered research in anxiety spectrum conditions, comprising separation anxiety disorder, specific phobias, social anxiety disorder (SAD), panic disorder, generalized anxiety disorder, and anxiety-related endophenotypes (e.g., trust behavior, behavioral inhibition, neuroticism, and state/trait anxiety). OT receptor gene (OXTR) polymorphisms have been implicated in gene-environment interactions with attachment style and childhood maltreatment and to influence clinical outcomes, including SAD intensity and limbic responsiveness...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28805572/personalized-medicine-and-nonmotor-symptoms-in-parkinson-s-disease
#5
Nataliya Titova, K Ray Chaudhuri
Parkinson's disease (PD) is a multineurotransmitter dysfunction related disorder resulting in a range of motor and nonmotor symptoms. Phenotypic heterogeneity is pronounced in PD and nonmotor symptoms dominant subtypes have been described. These endophenotypes may be underpinned by considerable nondopaminergic dysfunction; however, conventional treatment of PD continues to be mostly reliant on dopamine replacement strategy or manipulation of brain dopaminergic pathways. Consequently, treatment of many nondopaminergic nonmotor and some motor symptoms remains a key unmet need...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804465/personality-traits-related-to-binge-drinking-a-systematic-review
#6
REVIEW
Ana Adan, Diego A Forero, José Francisco Navarro
The pattern of alcohol consumption in the form of binge drinking (BD) or heavy episodic drinking has increased notably worldwide in recent years, especially among adolescent and young people, being currently recognized as a global health problem. Although only a minority of binge drinkers will develop a substance use disorder, BD may have negative personal and social consequences in the short and medium term. The objective of this article is to review the findings on personality traits related to binge drinkers and to emphasize the aspects that should be examined in order to make progress in this area...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28795169/chronic-pain-and-chronic-stress-two-sides-of-the-same-coin
#7
Chadi G Abdallah, Paul Geha
Pain and stress share significant conceptual and physiological overlaps. Both phenomena challenge the body's homeostasis and necessitate decision-making to help animals adapt to their environment. In addition, chronic stress and chronic pain share a common behavioral model of failure to extinguish negative memories. Yet, they also have discrepancies such that the final brain endophenotype of posttraumatic stress disorder, depression, and chronic pain appears to be different among the three conditions, and the role of the hypothalamic-pituitary-adrenal axis remains unclear in the physiology of pain...
February 2017: Chronic stress
https://www.readbyqxmd.com/read/28776581/decreased-brain-ph-as-a-shared-endophenotype-of-psychiatric-disorders
#8
Hideo Hagihara, Vibeke S Catts, Yuta Katayama, Hirotaka Shoji, Tsuyoshi Takagi, Freesia L Huang, Akito Nakao, Yasuo Mori, Kuo-Ping Huang, Shunsuke Ishii, Isabella A Graef, Keiichi I Nakayama, Cynthia Shannon Weickert, Tsuyoshi Miyakawa
Although the brains of patients with schizophrenia and bipolar disorder exhibit decreased brain pH relative to those of healthy controls upon postmortem examination, it remains controversial whether this finding reflects a primary feature of the diseases or is a result of confounding factors such as medication and agonal state. To date, systematic investigation of brain pH has not been undertaken using animal models, which can be studied without confounds inherent in human studies. In the present study, we first reevaluated the pH of the postmortem brains of patients with schizophrenia and bipolar disorder by conducting a meta-analysis of existing datasets from ten studies...
August 4, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28770037/adhd-related-symptoms-and-attention-profiles-in-the-unaffected-siblings-of-probands-with-autism-spectrum-disorder-focus-on-the-subtypes-of-autism-and-asperger-s-disorder
#9
Yi-Ling Chien, Miao-Chun Chou, Yen-Nan Chiu, Wen-Jiun Chou, Yu-Yu Wu, Wen-Che Tsai, Susan Shur-Fen Gau
BACKGROUND: The presence of attention-deficit/hyperactive disorder (ADHD) symptoms and impaired attention performance are commonly noted in individuals with autism spectrum disorder (ASD). However, little is known about attention performance in their unaffected siblings. This study aimed to investigate the ADHD-related traits and attention performance in unaffected siblings of probands with autism and Asperger syndrome (AS), as well as the clinical correlates of ADHD-related traits. METHODS: We assessed the intention, hyperactivity-impulsivity, and oppositional symptoms, and attention profiles of 199 probands with a diagnosis of ASD (122 autism, 77 AS), their unaffected siblings, and 196 typically developing controls (TD) by their parents' reports on the ADHD-related symptoms and the Connors' Continuous Performance Test (CCPT), respectively...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28763777/structural-deficits-in-salience-network-regions-are-associated-with-increased-impulsivity-and-compulsivity-in-alcohol-dependence
#10
Erica N Grodin, Carlos R Cortes, Primavera A Spagnolo, Reza Momenan
BACKGROUND: Convergent preclinical and clinical evidence has linked the anterior insula to impulsivity and alcohol-associated compulsivity. The anterior insula is functionally connected to the anterior cingulate cortex, together comprising the major nodes of the salience network, which serves to signal salient events, including negative consequences. Clinical studies have found structural and functional alterations in the anterior insula and anterior cingulate cortices of alcohol dependent individuals...
July 22, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28761767/investigating-the-evidence-of-behavioral-cognitive-and-psychiatric-endophenotypes-in-autism-a-systematic-review
#11
REVIEW
Kavita Ruparelia, Karim Manji, Amina Abubakar, Charles R Newton
Substantial evidence indicates that parents of autistic individuals often display milder forms of autistic traits referred to as the broader autism phenotype (BAP). To determine if discrete endophenotypes of autism can be identified, we reviewed the literature to assess the evidence of behavioral, cognitive, and psychiatric profiles of the BAP. A systematic review was conducted using EMBASE, MEDLINE, PsycINFO, PsycEXTRA, and Global Health. Sixty papers met our inclusion criteria and results are discussed according to the proportion of studies that yield significant deficits per domain...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28760212/brain-derived-neurotrophic-factor-rs6265-val66met-polymorphism-is-associated-with-disease-severity-and-incidence-of-cardiovascular-events-in-a-patient-cohort
#12
Rong Jiang, Michael A Babyak, Beverly H Brummett, Elizabeth R Hauser, Svati H Shah, Richard C Becker, Ilene C Siegler, Abanish Singh, Carol Haynes, Megan Chryst-Ladd, Damian M Craig, Redford B Williams
BACKGROUND: The rs6265 (Val66Met) single-nucleotide polymorphism in the BDNF gene has been related to a number of endophenotypes that have in turn been shown to confer risk for atherosclerotic cardiovascular disease (CVD). To date, however, very few studies have examined the association of the Val66Met single-nucleotide polymorphism with CVD clinical outcomes. METHODS: In a cohort of 5,510 Caucasian patients enrolled in the CATHeterization GENetics (CATHGEN) study at Duke University Hospital between 2001 and 2011, we determined the severity of coronary artery disease (CAD) and CVD event incidence through up to 11...
August 2017: American Heart Journal
https://www.readbyqxmd.com/read/28759882/oculomotricity-and-neurological-soft-signs-can-we-refine-the-endophenotype-a-study-in-subjects-belonging-to-the-spectrum-of-schizophrenia
#13
Simona Caldani, Isabelle Amado, Narjes Bendjemaa, François Vialatte, Célia Mam-Lam-Fook, Raphael Gaillard, Marie-Odile Krebs, Maria Pia Bucci
Alterations in eye tracking and motor impairments as well as Neurological Soft Signs (NSS) are frequently reported in patients with schizophrenia as well as in their relatives, and are proposed as endophenotype of the disease. This study investigated smooth pursuit eye movement and fixation task with distractors with a gap condition, two markers of inhibitory control mechanism, in 49 patients with schizophrenia, 24 ultra-high risk subjects, 41 full biological clinical siblings of patients and 48 controls. NSS were assessed as a marker of abnormal neurodevelopment...
June 8, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28755877/multiple-retinal-anomalies-in-schizophrenia
#14
REVIEW
Selin A Adams, Henry A Nasrallah
INTRODUCTION: In addition to being a critical component of the visual system, the retina provides the opportunity for an accessible and noninvasive probe of brain pathology in neuropsychiatric disorders. Several studies have reported various retinal abnormalities in schizophrenia, some primary and others iatrogenic. There is now increasing evidence supporting the existence of retinal anomalies in schizophrenia across structural, neurochemical and physiological parameters. Here, we review the types of retinal pathology in schizophrenia and discuss how these findings may provide novel insights for future research into the neurodevelopmental neurobiology of this syndrome, and possibly as useful biomarkers...
July 26, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28745683/-genetic-aspects-of-schizophrenia
#15
A Yu Morozova, E A Zubkov, Ya A Zorkina, A M Reznik, G P Kostyuk, V P Chekhonin
Schizophrenia is a disease with a complex non-Mendelian inheritance mechanism in most cases involving the combined action of a large number of genes. Identifying of genomic variations associated with schizophrenia endophenotypes has a great potential. This review describes genetic markers of the disease, current methods of their analysis, including genome-wide association study (GWAS). Certain genes with mutations that increase the risk of schizophrenia are described. Functional polymorphisms with phenotypic expression, which are significantly associated with clinical manifestation of schizophrenia, can serve as useful genetic markers...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28745306/integrating-endocannabinoid-signaling-and-cannabinoids-into-the-biology-and-treatment-of-posttraumatic-stress-disorder
#16
Matthew N Hill, Patrizia Campolongo, Rachel Yehuda, Sachin Patel
Exposure to stress is an undeniable, but in most cases surmountable, part of life. However, in certain individuals, exposure to severe or cumulative stressors can lead to an array of pathological conditions including posttraumatic stress disorder (PTSD), characterized by debilitating trauma-related intrusive thoughts, avoidance behaviors, hyperarousal, as well as depressed mood and anxiety. In the context of the rapidly changing political and legal landscape surrounding use of cannabis products in the United States, there has been a surge of public and research interest in the role of cannabinoids in the regulation of stress-related biological processes and in their potential therapeutic application for stress-related psychopathology...
July 26, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28743784/spironolactone-is-an-antagonist-of-nrg1-erbb4-signaling-and-schizophrenia-relevant-endophenotypes-in-mice
#17
Michael C Wehr, Wilko Hinrichs, Magdalena M Brzózka, Tilmann Unterbarnscheidt, Alexander Herholt, Jan P Wintgens, Sergi Papiol, Maria Clara Soto-Bernardini, Mykola Kravchenko, Mingyue Zhang, Klaus-Armin Nave, Sven P Wichert, Peter Falkai, Weiqi Zhang, Markus H Schwab, Moritz J Rossner
Enhanced NRG1-ERBB4 signaling is a risk pathway in schizophrenia, and corresponding mouse models display several endophenotypes of the disease. Nonetheless, pathway-directed treatment strategies with clinically applicable compounds have not been identified. Here, we applied a cell-based assay using the split TEV technology to screen a library of clinically applicable compounds to identify modulators of NRG1-ERBB4 signaling for repurposing. We recovered spironolactone, known as antagonist of corticosteroids, as an inhibitor of the ERBB4 receptor and tested it in pharmacological and biochemical assays to assess secondary compound actions...
July 25, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28738287/perceived-stress-and-poly-tobacco-product-use-across-adolescence-patterns-of-association-and-gender-differences
#18
Adam M Leventhal, Robert Urman, Jessica L Barrington-Trimis, Nicholas I Goldenson, Katia Gallegos, Chih Ping Chou, Kejia Wang, Kiros Berhane, Tess Boley Cruz, Mary Ann Pentz, Jennifer Unger, Rob S McConnell
Perceived stress-an endophenotype indicative of the tendency to appraise stress as frequent, unpredictable and unmanageable-is associated with adolescent cigarette smoking. It is unclear whether this association: (1) extends to alternative tobacco products, like electronic cigarettes and hookah (tobacco water pipe), which are increasingly popular among youth, and (2) differs by gender. In this report, data were drawn from a population-based longitudinal cohort of youth in Southern California. Perceived stress was assessed at baseline (7th or 8th grade; 2010)...
July 14, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28736311/imaging-wide-association-study-integrating-imaging-endophenotypes-in-gwas
#19
Zhiyuan Xu, Chong Wu, Wei Pan
A new and powerful approach, called imaging-wide association study (IWAS), is proposed to integrate imaging endophenotypes with GWAS to boost statistical power and enhance biological interpretation for GWAS discoveries. IWAS extends the promising transcriptome-wide association study (TWAS) from using gene expression endophenotypes to using imaging and other endophenotypes with a much wider range of possible applications. As illustration, we use gray-matter volumes of several brain regions of interest (ROIs) drawn from the ADNI-1 structural MRI data as imaging endophenotypes, which are then applied to the individual-level GWAS data of ADNI-GO/2 and a large meta-analyzed GWAS summary statistics dataset (based on about 74,000 individuals), uncovering some novel genes significantly associated with Alzheimer's disease (AD)...
July 20, 2017: NeuroImage
https://www.readbyqxmd.com/read/28735641/risk-and-resilience-brain-networks-in-treatment-resistant-schizophrenia
#20
Eleni P Ganella, Caio Seguin, Cali F Bartholomeusz, Sarah Whittle, Chad Bousman, Cassandra M J Wannan, Maria A Di Biase, Christina Phassouliotis, Ian Everall, Christos Pantelis, Andrew Zalesky
BACKGROUND: Genes, molecules and neural circuits that are associated with, or confer risk to developing schizophrenia have been studied and mapped. It is hypothesized that certain neural systems may counterbalance familial risk of schizophrenia, and thus confer resilience to developing the disorder. This study sought to identify resting-state functional brain connectivity (rs-FC) representing putative risk or resilience endophenotypes in schizophrenia. METHODS: Resting-state functional magnetic resonance imaging (rs-fMRI) was performed in 42 individuals with treatment resistant schizophrenia (TRS), 16 unaffected first-degree family members (UFM) and 42 healthy controls...
July 20, 2017: Schizophrenia Research
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