keyword
MENU ▼
Read by QxMD icon Read
search

Endophenotypes

keyword
https://www.readbyqxmd.com/read/28340442/neurocognitive-performance-as-an-endophenotype-for-mood-disorder-subgroups
#1
Alison K Merikangas, Lihong Cui, Monica E Calkins, Tyler M Moore, Ruben C Gur, Raquel E Gur, Kathleen R Merikangas
BACKGROUND: There is growing evidence that neurocognitive function may be an endophenotype for mood disorders. The goal of this study is to examine the specificity and familiality of neurocognitive functioning across the full range of mood disorder subgroups, including Bipolar I (BP-I), Bipolar II (BP-II), Major Depressive Disorders (MDD), and controls in a community-based family study. METHODS: A total of 310 participants from 137 families with mood spectrum disorders (n=151) and controls (n=159) completed the University of Pennsylvania's Computerized Neurocognitive Battery (CNB) that assessed the accuracy and speed of task performance across five domains...
March 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28339618/telomere-length-oxidative-stress-inflammation-and-bdnf-levels-in-siblings-of-patients-with-bipolar-disorder-implications-for-accelerated-cellular-aging
#2
Mirela Paiva Vasconcelos-Moreno, Gabriel Rodrigo Fries, Carolina Gubert, Bárbara Tietböhl Martins Quadros Dos Santos, Adam Fijtman, Juliana Sartori, Pamela Ferrari, Lucas Kich Grun, Mariana Migliorini Parisi, Fátima Theresinha Costa Rodrigues Guma, Florencia Maria Barbé-Tuana, Flávio Kapczinski, Adriane Ribeiro Rosa, Lakshmi N Yatham, Marcia Kauer-Sant'Anna
Background: Growing evidence supports the existence of neurobiological trait abnormalities in individuals at genetic risk for bipolar disorder. The aim of this study was to examine potential differences in brain-derived neurotrophic factor, cytokines, oxidative stress, and telomere length markers between patients with bipolar disorder, their siblings, and healthy controls. Methods: Thirty-six patients with bipolar disorder type I, 39 siblings, and 44 healthy controls were assessed...
January 30, 2017: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28334676/manual-motor-speed-dysfunction-as-a-neurocognitive-endophenotype-in-euthymic-bipolar-disorder-patients-and-their-healthy-relatives-evidence-from-a-5-year-follow-up-study
#3
P Correa-Ghisays, V Balanzá-Martínez, G Selva-Vera, J Vila-Francés, E Soria-Olivas, J Vivas-Lalinde, C San Martín, A M Borrás, R Ayesa-Arriola, J Sanchez-Moreno, J Sánchez-Ort, B Crespo-Facorro, E Vieta, R Tabarés-Seisdedos
BACKGROUND: Few studies have examined Manual Motor Speed (MMS) in bipolar disorder (BD). The aim of this longitudinal, family study was to explore whether dysfunctional MMS represents a neurocognitive endophenotype of BD. METHODS: A sample of 291 subjects, including 131 BD patients, 77 healthy first-degree relatives (BD-Rel), and 83 genetically-unrelated healthy controls (HC), was assessed with the Finger-Tapping Test (FTT) on three occasions over a 5-year period...
March 16, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28329217/genomewide-association-scan-of-a-mortality-associated-endophenotype-for-a-long-and-healthy-life-in-the-long-life-family-study
#4
Jatinder Singh, Ryan L Minster, Nicole Schupf, Aldi Kraja, YongMei Liu, Kaare Christensen, Anne B Newman, Candace M Kammerer
Background: Identification of genes or fundamental biological pathways that regulate aging phenotypes and longevity could lead to possible interventions to increase healthy longevity. Methods: Using data from the Long Life Family Study, we performed genomewide association analyses on an endophenotype construct, LF1, comprising a linear combination of traits across health domains. LF1 primarily reflected traits from the pulmonary and physical activity domains. Results: We detected a significant association between LF1 and a locus on chromosome 10p15 (p-value = 4...
February 18, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28327445/nine-differentially-expressed-genes-from-a-post-mortem-study-and-their-association-with-suicidal-status-in-a-sample-of-suicide-completers-attempters-and-controls
#5
Martina Balestri, Concetta Crisafulli, Luigi Donato, Ina Giegling, Raffaella Calati, Niki Antypa, Barbara Schneider, Dragan Marusic, Maria Eugenia Tarozzi, Dorjan Marusic, Metka Paragi, Annette M Hartmann, Bettina Konte, Agnese Marsano, Alessandro Serretti, Dan Rujescu
Several lines of evidence indicate that suicidal behaviour is partly heritable, with multiple genes implicated in its aetiology. We focused on nine genes (S100A13, EFEMP1, PCDHB5, PDGFRB, CDCA7L, SCN2B, PTPRR, MLC1 and ZFP36) which we previously detected as differentially expressed in the cortex of suicide victims compared to controls. We investigated 84 variants within these genes in 495 suicidal subjects (299 completers and 196 attempters) and 1513 controls (109 post-mortem and 1404 healthy). We evaluated associations with: 1) suicidal phenotype; 2) possible endophenotypes for suicidal behaviour...
March 10, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28322273/neuregulin-2-ablation-results-in-dopamine-dysregulation-and-severe-behavioral-phenotypes-relevant-to-psychiatric-disorders
#6
L Yan, A Shamir, M Skirzewski, E Leiva-Salcedo, O B Kwon, I Karavanova, D Paredes, O Malkesman, K R Bailey, D Vullhorst, J N Crawley, A Buonanno
Numerous genetic and functional studies implicate variants of Neuregulin-1 (NRG1) and its neuronal receptor ErbB4 in schizophrenia and many of its endophenotypes. Although the neurophysiological and behavioral phenotypes of NRG1 mutant mice have been investigated extensively, practically nothing is known about the function of NRG2, the closest NRG1 homolog. We found that NRG2 expression in the adult rodent brain does not overlap with NRG1 and is more extensive than originally reported, including expression in the striatum and medial prefrontal cortex (mPFC), and therefore generated NRG2 knockout mice (KO) to study its function...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28304340/neuroinflammation-and-oxidative-stress-in-psychosis-and-psychosis-risk
#7
REVIEW
Henry Barron, Sina Hafizi, Ana C Andreazza, Romina Mizrahi
Although our understanding of psychotic disorders has advanced substantially in the past few decades, very little has changed in the standard of care for these illnesses since the development of atypical anti-psychotics in the 1990s. Here, we integrate new insights into the pathophysiology with the increasing interest in early detection and prevention. First, we explore the role of N-methyl-d-aspartate receptors in a subpopulation of cortical parvalbumin-containing interneurons (PVIs). Postmortem and preclinical data has implicated these neurons in the positive and negative symptoms, as well as the cognitive dysfunction present in schizophrenia...
March 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28301317/challenges-in-the-analysis-of-epigenetic-biomarkers-in-clinical-samples
#8
José Luis García-Giménez, Salvador Mena-Mollá, Jesús Beltrán-García, Fabian Sanchis-Gomar
Epigenetic modifications represent an interesting landscape which can describe relevant features of human disease. Epigenetic biomarkers show several advantages as disease biomarkers because they provide information about gene function, specific endophenotypes and can even incorporate information from the environment and the natural history of disease. The improvement in genomic and epigenomic technologies has revolutionized the current comprehension of biological processes underlying health and disease. However, now is the time to adopt these new technologies to improve human health, thus converting this information into reliable biomarkers...
March 16, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28300615/heritability-of-brain-activity-related-to-response-inhibition-a-longitudinal-genetic-study-in-adolescent-twins
#9
Andrey P Anokhin, Simon Golosheykin, Julia D Grant, Andrew C Heath
The ability to inhibit prepotent but context- or goal-inappropriate responses is essential for adaptive self-regulation of behavior. Deficits in response inhibition, a key component of impulsivity, have been implicated as a core dysfunction in a range of neuropsychiatric disorders such as ADHD and addictions. Identification of genetically transmitted variation in the neural underpinnings of response inhibition can help to elucidate etiological pathways to these disorders and establish the links between genes, brain, and behavior...
March 11, 2017: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/28285250/reversal-learning-in-patients-with-obsessive-compulsive-disorder-ocd-and-their-unaffected-relatives-is-orbitofrontal-dysfunction-an-endophenotype-of-ocd
#10
Didem Tezcan, Selim Tumkaya, Emre Bora
It has been suggested that reversal learning deficits might be an endophenotype of OCD. To investigate this hypothesis, we administered a probabilistic reversal learning task (ProbRev) to OCD patients, their unaffected first-degree relatives, and healthy controls. Although the relatives had a performance in between OCDs and controls at the early phase of the ProbRev, their performance was similar to controls and was significantly better than OCD patients at the later stages of the test. Our findings imply that reversal learning impairment might be partly a trait-related feature of OCD but state-related factors can also contribute to observed deficits...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28282077/-endophenotypes-in-psychiatry
#11
Salvador M Guinjoan
We review the concept of endophenotype, and its relationship with related terms in use in the scientific literature, including "biomarker" and "intermediate phenotype". We then explain the importance of the concept in current psychiatry research. Specifically, we focus in the potential importance of endophenotypes in both disentangling the genetic causes, and improving the dimensional and pathophysiologic definition, of psychiatric nosological categories. After delineating which types of variables could constitute valid endophenotypes, we describe efforts in defining neurobiological signatures of social cognitive deficits in schizophrenia as an example with potential heuristic value...
September 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28277685/attention-deficit-hyperactivity-disorder-and-phonological-working-memory-methodological-variability-affects-clinical-and-experimental-performance-metrics
#12
Stephanie J Tarle, R Matt Alderson, Connor H G Patros, Sarah E Lea, Kristen L Hudec, Elaine F Arrington
OBJECTIVE: Despite promising findings in extant research that suggest impaired working memory (WM) serves as a central neurocognitive deficit or candidate endophenotype of attention-deficit/hyperactivity disorder (ADHD), findings from translational research have been relatively underwhelming. This study aimed to explicate previous equivocal findings by systematically examining the effect of methodological variability on WM performance estimates across experimental and clinical WM measures...
March 9, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28262266/ptsd-in-court-ii-risk-factors-endophenotypes-and-biological-underpinnings-in-ptsd
#13
REVIEW
Gerald Young
The second article in the series of three for the journal on "PTSD in Court" especially concerns the biological bases that have been found to be associated with PTSD (posttraumatic stress disorder). The cohering concepts in this section relate to risk factors; candidate genes; polygenetics; "gene×environment" interactions; epigenetics; endophenotypes; biomarkers; and connective networks both structurally and functionally (in terms of intrinsic connectivity networks, ICNs, including the DMN, SN, and CEN; that is, default mode, salience, and central executive networks, respectively)...
March 2, 2017: International Journal of Law and Psychiatry
https://www.readbyqxmd.com/read/28256099/assessment-of-autistic-traits-in-children-aged-2-to-4%C3%A2-years-with-the-preschool-version-of-the-social-responsiveness-scale-srs-p-findings-from-japan
#14
Andrew Stickley, Yoshiyuki Tachibana, Keiji Hashimoto, Hideyuki Haraguchi, Atsuko Miyake, Seiichi Morokuma, Hiroshi Nitta, Masako Oda, Yukihiro Ohya, Ayako Senju, Hidetoshi Takahashi, Takanori Yamagata, Yoko Kamio
The recent development and use of autism measures for the general population has led to a growing body of evidence which suggests that autistic traits are distributed along a continuum. However, as most existing autism measures were designed for use in children older than age 4, to date, little is known about the autistic continuum in children younger than age 4. As autistic symptoms are evident in the first few years, to address this research gap, the current study tested the preschool version of the Social Responsiveness Scale (SRS-P) in children aged 2 to 4½ years in clinical (N = 74, average age 40 months, 26-51 months) and community settings (N = 357, average age 39 months, 25-50 months) in Japan...
March 3, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28247064/genome-wide-association-study-identifies-four-novel-loci-associated-with-alzheimer-s-endophenotypes-and-disease-modifiers
#15
Yuetiva Deming, Zeran Li, Manav Kapoor, Oscar Harari, Jorge L Del-Aguila, Kathleen Black, David Carrell, Yefei Cai, Maria Victoria Fernandez, John Budde, Shengmei Ma, Benjamin Saef, Bill Howells, Kuan-Lin Huang, Sarah Bertelsen, Anne M Fagan, David M Holtzman, John C Morris, Sungeun Kim, Andrew J Saykin, Philip L De Jager, Marilyn Albert, Abhay Moghekar, Richard O'Brien, Matthias Riemenschneider, Ronald C Petersen, Kaj Blennow, Henrik Zetterberg, Lennart Minthon, Vivianna M Van Deerlin, Virginia Man-Yee Lee, Leslie M Shaw, John Q Trojanowski, Gerard Schellenberg, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Lindsay A Farrer, Elaine R Peskind, Ge Li, Antonio F Di Narzo, John S K Kauwe, Alison M Goate, Carlos Cruchaga
More than 20 genetic loci have been associated with risk for Alzheimer's disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms. Genetic studies using intermediate quantitative traits such as biomarkers, or endophenotypes, benefit from increased statistical power to identify variants that may not pass the stringent multiple test correction in case-control studies. Endophenotypes also contain additional information helpful for identifying variants and genes associated with other aspects of disease, such as rate of progression or onset, and provide context to interpret the results from genome-wide association studies (GWAS)...
February 28, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28245266/longitudinal-changes-in-prospective-memory-and-their-clinical-correlates-at-1-year-follow-up-in-first-episode-schizophrenia
#16
Fu-Chun Zhou, Chuan-Yue Wang, Gabor S Ungvari, Chee H Ng, Yan Zhou, Liang Zhang, Jingjing Zhou, David H K Shum, David Man, Deng-Tang Liu, Jun Li, Yu-Tao Xiang
This study aimed to investigate prospective memory (PM) and the association with clinical factors at 1-year follow-up in first-episode schizophrenia (FES). Thirty-two FES patients recruited from a university-affiliated psychiatric hospital in Beijing and 17 healthy community controls (HCs) were included. Time- and event-based PM (TBPM and EBPM) performances were measured with the Chinese version of the Cambridge Prospective Memory Test (C-CAMPROMPT) at baseline and at one-year follow-up. A number of other neurocognitive tests were also administered...
2017: PloS One
https://www.readbyqxmd.com/read/28241430/the-importance-of-endophenotypes-to-evaluate-the-relationship-between-genotype-and-external-phenotype
#17
REVIEW
Marinus F W Te Pas, Ole Madsen, Mario P L Calus, Mari A Smits
With the exception of a few Mendelian traits, almost all phenotypes (traits) in livestock science are quantitative or complex traits regulated by the expression of many genes. For most of the complex traits, differential expression of genes, rather than genomic variation in the gene coding sequences, is associated with the genotype of a trait. The expression profiles of the animal's transcriptome, proteome and metabolome represent endophenotypes that influence/regulate the externally-observed phenotype. These expression profiles are generated by interactions between the animal's genome and its environment that range from the cellular, up to the husbandry environment...
February 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28238028/prepotent-response-inhibition-and-reaction-times-in-children-with-attention-deficit-hyperactivity-disorder-from-a-caribbean-community
#18
Giomar Jiménez-Figueroa, Carlos Ardila-Duarte, David A Pineda, Johan E Acosta-López, Martha L Cervantes-Henríquez, Wilmar Pineda-Alhucema, Jeimys Cervantes-Gutiérrez, Marisol Quintero-Ibarra, Manuel Sánchez-Rojas, Jorge I Vélez, Pedro J Puentes-Rozo
Impairment in inhibitory control has been postulated as an underlying hallmark of attention deficit/hyperactivity disorder (ADHD), which can be utilized as a quantitative trait for genetic studies. Here, we evaluate whether inhibitory control, measured by simple automatized prepotent response (PR) inhibition variables, is a robust discriminant function for the diagnosis of ADHD in children and can be used as an endophenotype for future genetic studies. One hundred fifty-two school children (30.9% female, 67...
February 25, 2017: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/28235603/val158met-polymorphism-in-the-comt-gene-is-associated-with-hypersomnia-and-mental-health-related-quality-of-life-in-a-colombian-sample
#19
Karen M Jiménez, Angela J Pereira-Morales, Diego A Forero
The identification of genes that are risk factors for major depressive disorder remains a main task for global psychiatric research. The Catechol-O-methyltransferase (COMT) gene has been an important candidate risk factor for several psychiatric disorders. Previous studies have shown that a functional polymorphism (Val158Met) in this gene has an effect on several brain circuits and endophenotypes of psychiatric relevance. The aim of this study was to explore the association of a functional polymorphism in the COMT gene with psychological distress, sleep problems and health-related quality of life...
February 22, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28230406/test-retest-reliability-of-the-facial-expression-labeling-task
#20
Jennifer L Cecilione, Lance M Rappaport, Brad Verhulst, Dever M Carney, R J R Blair, Melissa A Brotman, Ellen Leibenluft, Daniel S Pine, Roxann Roberson-Nay, John M Hettema
Recognizing others' emotional expressions is vital for socioemotional development; impairments in this ability occur in several psychiatric disorders. Further study is needed to map the development of this ability and to evaluate its components as potential transdiagnostic endophenotypes. Before doing so, however, research is required to substantiate the test-retest reliability of scores of the face emotion identification tasks linked to developmental psychopathology. The current study estimated test-retest reliability of scores of one such task, the facial expression labeling task (FELT) among a sample of twin children (N = 157; ages 9-14)...
February 23, 2017: Psychological Assessment
keyword
keyword
39678
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"