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Endophenotypes

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https://www.readbyqxmd.com/read/28105707/binge-drinking-differentially-affects-cortical-and-subcortical-microstructure
#1
Laurel S Morris, Nicholas G Dowell, Mara Cercignani, Neil A Harrison, Valerie Voon
Young adult binge drinkers represent a model for endophenotypic risk factors for alcohol misuse and early exposure to repeated binge cycles. Chronic or harmful alcohol use leads to neurochemical, structural and morphological neuroplastic changes, particularly in regions associated with reward processing and motivation. We investigated neural microstructure in 28 binge drinkers compared with 38 matched healthy controls. We used a recently developed diffusion magnetic resonance imaging acquisition and analysis, which uses three-compartment modelling (of intracellular, extracellular and cerebrospinal fluid) to determine brain tissue microstructure features including neurite density and orientation dispersion index (ODI)...
January 20, 2017: Addiction Biology
https://www.readbyqxmd.com/read/28100725/genome-wide-association-study-identifies-mapt-locus-influencing-human-plasma-tau-levels
#2
Jason Chen, Jin-Tai Yu, Kevin Wojta, Hui-Fu Wang, Henrik Zetterberg, Kaj Blennow, Jennifer S Yokoyama, Michael W Weiner, Joel H Kramer, Howard Rosen, Bruce L Miller, Giovanni Coppola, Adam L Boxer
OBJECTIVE: To identify genetic loci associated with plasma tau concentrations in healthy elders and individuals with Alzheimer disease. METHODS: Four hundred sixty-three non-Hispanic white individuals exceeding quality control criteria were included from the Alzheimer's Disease Neuroimaging Initiative (ADNI-1) cohort. Association of plasma tau with genetic polymorphisms was performed with a linear regression model. Significant associations were validated in an independent replication cohort consisting of 431 healthy elders or individuals with mild cognitive impairment recruited from the University of California, San Francisco Memory and Aging Center...
January 18, 2017: Neurology
https://www.readbyqxmd.com/read/28099161/menstrual-cycle-and-the-temporal-discrimination-threshold
#3
Eavan M Mc Govern, Emer O'Connor, Ines Beiser, Laura Williams, John S Butler, Brendan Quinlivan, Shruti Narasiham, Rebecca Beck, Richard B Reilly, Sean O'Riordan, Michael Hutchinson
The temporal discrimination threshold (TDT) is a proposed pre-clinical biomarker (endophenotype) for adult onset isolated focal dystonia (AOIFD). Age- and sex-related effects on temporal discrimination demonstrate that women, before the age of 40 years, have faster temporal discrimination than men but their TDTs worsen with age at almost three times the rate of men. Thus after 40 years the TDT in women is progressively worse than in men. AOIFD is an increasingly female-predominant disorder after the age of 40; it is not clear whether this age-related sexually-dimorphic difference observed for both the TDT and sex ratio at disease onset in AOIFD is a hormonal or chromosomal effect...
January 18, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28094999/specificity-of-executive-functioning-and-processing-speed-problems-in-common-psychopathology
#4
Joel T Nigg, Jennifer M Jester, Gillian M Stavro, Ka I Ip, Leon I Puttler, Robert A Zucker
OBJECTIVE: Interest continues in neuropsychological measures as cross-disorder intermediate phenotypes in understanding psychopathology. A central question concerns their specificity versus generalizability to particular forms of psychopathology, particularly for executive functioning (EF) and response speed. Three conceptual models examining these relationships were tested to clarify this picture at different levels in the diagnostic hierarchy. METHOD: Participants (total n = 641, age 18-60) yielded complete structured diagnostic interviews and a neuropsychological test battery comprising measures of executive function, processing speed, and IQ...
January 16, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28089851/neuregulin-1-mutant-mice-indicate-motor-and-sensory-deficits-indeed-few-references-for-schizophrenia-endophenotype-model
#5
Silvia Schneider, Katja Götz, Carmen Birchmeier, Herbert Schwegler, Thomas Roskoden
Neuregulins (Nrg) are a gene family that binds to tyrosine kinase receptors of the ErbB family. The protein of Nrg1 is to be involved in heart formation, migration of neurons, axonal pathfinding and synaptic function. A relation between Nrg1 and schizophrenia is assumed. Chronic impairment in schizophrenia is characterized by different positive and negative symptoms. Detectable markers of this disease in human and in animal models are activity, social behavior and sensory processing. In this study we compared heterozygous Nrg1 mutant mice in behavior and quantification of dopaminergic and serotoninergic neurons with wild type-like littermates...
January 13, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28078311/common-variant-rs356182-near-snca-defines-a-parkinson-s-disease-endophenotype
#6
Christine A Cooper, Nimansha Jain, Michael D Gallagher, Daniel Weintraub, Sharon X Xie, Yosef Berlyand, Alberto J Espay, Joseph Quinn, Karen L Edwards, Thomas Montine, Vivianna M Van Deerlin, John Trojanowski, Cyrus P Zabetian, Alice S Chen-Plotkin
OBJECTIVE: Parkinson's disease (PD) presents clinically with several motor subtypes that exhibit variable treatment response and prognosis. Here, we investigated genetic variants for their potential association with PD motor phenotype and progression. METHODS: We screened 10 SNPs, previously associated with PD risk, for association with tremor-dominant (TD) versus postural-instability gait disorder (PIGD) motor subtypes. SNPs that correlated with the TD/PIGD ratio in a discovery cohort of 251 PD patients were then evaluated in a multi-site replication cohort of 559 PD patients...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28070788/developmental-markers-of-genetic-liability-to-autism-in-parents-a-longitudinal-multigenerational-study
#7
Molly Losh, Gary E Martin, Michelle Lee, Jessica Klusek, John Sideris, Sheila Barron, Thomas Wassink
Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents' childhood records in the domains of language, reading, and math were studied from grades K-12...
January 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28070124/an-endophenotype-approach-to-the-genetics-of-alcohol-dependence-a-genome-wide-association-study-of-fast-beta-eeg-in-families-of-african-ancestry
#8
J L Meyers, J Zhang, J C Wang, J Su, S I Kuo, M Kapoor, L Wetherill, S Bertelsen, D Lai, J E Salvatore, C Kamarajan, D Chorlian, A Agrawal, L Almasy, L Bauer, K K Bucholz, G Chan, V Hesselbrock, L Koganti, J Kramer, S Kuperman, N Manz, A Pandey, M Seay, D Scott, R E Taylor, D M Dick, H J Edenberg, A Goate, T Foroud, B Porjesz
Fast beta (20-28 Hz) electroencephalogram (EEG) oscillatory activity may be a useful endophenotype for studying the genetics of disorders characterized by neural hyperexcitability, including substance use disorders (SUDs). However, the genetic underpinnings of fast beta EEG have not previously been studied in a population of African-American ancestry (AA). In a sample of 2382 AA individuals from 482 families drawn from the Collaborative Study on the Genetics of Alcoholism (COGA), we performed a genome-wide association study (GWAS) on resting-state fast beta EEG power...
January 10, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28065402/genetics-of-restless-legs-syndrome
#9
Juliane Winkelmann, Barbara Schormair, Lan Xiong, Patrick A Dion, David B Rye, Guy A Rouleau
At the outset of genetic studies in restless legs syndrome (RLS), the disorder was assumed to be a classical monogenic disorder that runs in families. However, years of family studies did not reveal any causally-related genes or genetic variants. The advent of high-throughput genotyping technology led to a change; genome-wide association studies in large case-control samples became feasible, which led to the identification of first genetic risk variants for RLS. Variants detected by this approach are common ones, which that individually confer only a minor increase in risk of disease...
November 12, 2016: Sleep Medicine
https://www.readbyqxmd.com/read/28058944/epilepsy-in-hemiplegic-migraine-genetic-mutations-and-clinical-implications
#10
P Prontera, P Sarchielli, S Caproni, C Bedetti, L M Cupini, P Calabresi, C Costa
Objective We performed a systematic review on the comorbidities of familial/sporadic hemiplegic migraine (F/SHM) with seizure/epilepsy in patients with CACNA1A, ATP1A2 or SCN1A mutations, to identify the genotypes associated and investigate for the presence of mutational hot spots. Methods We performed a search in MEDLINE and in the Human Gene Mutation and Leiden Open Variation Databases for mutations in the CACNA1A, ATP1A2 and SCN1A genes. After having examined the clinical characteristics of the patients, we selected those having HM and seizures, febrile seizures or epilepsy...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28055273/higher-scores-in-the-extraversion-personality-trait-are-associated-with-a-functional-polymorphism-in-the-per3-gene-in-healthy-subjects
#11
Karen M Jiménez, Angela J Pereira-Morales, Diego A Forero
A polymorphism in the PER3 (period circadian clock 3) gene has been associated with neuropsychiatric disorders and endophenotypes. We evaluated the possible association of personality domains with the PER3 polymorphism in a sample of healthy subjects: 271 individuals were evaluated with the Big Five Inventory and genotyped for the PER3 Variable Number Tandem Repeat (VNTR) polymorphism. We found a significant association between the PER3 polymorphism and the extraversion personality trait (p = 0.0093). The 5/5 genotype carriers showed higher scores for extraversion...
January 5, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28040410/a-genome-wide-association-study-of-fast-beta-eeg-in-families-of-european-ancestry
#12
Jacquelyn L Meyers, Jian Zhang, Niklas Manz, Madhavi Rangaswamy, Chella Kamarajan, Leah Wetherill, David B Chorlian, Sun J Kang, Lance Bauer, Victor Hesselbrock, John Kramer, Samuel Kuperman, John I Nurnberger, Jay Tischfield, Jen Chyong Wang, Howard J Edenberg, Alison Goate, Tatiana Foroud, Bernice Porjesz
BACKGROUND: Differences in fast beta (20-28 Hz) electroencephalogram (EEG) oscillatory activity distinguish some individuals with psychiatric and substance use disorders, suggesting that it may be a useful endophenotype for studying the genetics of disorders characterized by neural hyper-excitability. Despite the high heritability estimates provided by twin and family studies, there have been relatively few genetic studies of beta EEG, and to date only one genetic association finding has replicated (i...
December 28, 2016: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/28038438/executive-function-and-genetic-loading-in-nonpsychotic-relatives-of-schizophrenia-patients
#13
Erkan Aydın, Mine Cansu Ülgen, Abdülkadir Tabo, Özlem Devrim Balaban, Sema Yeşilyurt, Hüseyin Yumrukçal
Executive functions meet the "endophenotype candidate" criteria in neuropsychological measures for schizophrenic patients. To determine which area of executive functioning has the greatest value in differentiating the so called "candidate endophenotype" of schizophrenia through comparing the effect sizes of four commonly used executive function tests. A Wisconsin Card Sorting Test, a Stroop Test, a Trail Making Test and a Verbal Fluency Test were used to evaluate executive function in two study groups: healthy relatives of schizophrenia patients from simplex and multiplex families and a healthy control group...
December 21, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/28033505/transgenerational-transmission-of-an-anticholinergic-endophenotype-with-memory-dysfunction
#14
Wolfram Doehner, Lieselotte Praße, James Wolpers, Martina K Brückner, Uwe Ueberham, Thomas Arendt
Impaired cholinergic neurotransmission associated with cognitive dysfunction occurs in various mental disorders of different etiologies including Alzheimer's disease and postalcoholic dementia and others. To address the question whether there exists a common endophenotype with a defined genetic and/or epigenetic signature causing mental dysfunction in these disorders, we investigated 2 generations of offspring born to alcohol-treated mothers. Here, we show that memory impairment and reduced synthesis of acetylcholine occurs in both F1 (exposed to ethanol in utero) and F2 generation (never been exposed to ethanol)...
December 5, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/28030612/distinct-and-shared-endophenotypes-of-neural-substrates-in-bipolar-and-major-depressive-disorders
#15
Toshio Matsubara, Koji Matsuo, Kenichiro Harada, Masayuki Nakano, Mami Nakashima, Toshio Watanuki, Kazuteru Egashira, Matakazu Furukawa, Naofumi Matsunaga, Yoshifumi Watanabe
Little is known about disorder-specific biomarkers of bipolar disorder (BD) and major depressive disorder (MDD). Our aim was to determine a neural substrate that could be used to distinguish BD from MDD. Our study included a BD group (10 patients with BD, 10 first-degree relatives (FDRs) of individuals with BD), MDD group (17 patients with MDD, 17 FDRs of individuals with MDD), and 27 healthy individuals. Structural and functional brain abnormalities were evaluated by voxel-based morphometry and a trail making test (TMT), respectively...
2016: PloS One
https://www.readbyqxmd.com/read/28009080/disruptions-in-the-left-frontoparietal-network-underlie-resting-state-endophenotypic-markers-in-schizophrenia
#16
George Chahine, Anja Richter, Sarah Wolter, Roberto Goya-Maldonado, Oliver Gruber
Advances in functional brain imaging have improved the search for potential endophenotypic markers in schizophrenia. Here, we employed independent component analysis (ICA) and dynamic causal modeling (DCM) in resting state fMRI on a sample of 35 schizophrenia patients, 20 first-degree relatives and 35 control subjects. Analysis on ICA-derived networks revealed increased functional connectivity between the left frontoparietal network (FPN) and left temporal and parietal regions in schizophrenia patients (P < 0...
December 23, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/28003035/the-ontario-neurodegenerative-disease-research-initiative-ondri
#17
Sali M K Farhan, Robert Bartha, Sandra E Black, Dale Corbett, Elizabeth Finger, Morris Freedman, Barry Greenberg, David A Grimes, Robert A Hegele, Chris Hudson, Peter W Kleinstiver, Anthony E Lang, Mario Masellis, William E McIlroy, Paula M McLaughlin, Manuel Montero-Odasso, David G Munoz, Douglas P Munoz, Stephen Strother, Richard H Swartz, Sean Symons, Maria Carmela Tartaglia, Lorne Zinman, Michael J Strong
Because individuals develop dementia as a manifestation of neurodegenerative or neurovascular disorder, there is a need to develop reliable approaches to their identification. We are undertaking an observational study (Ontario Neurodegenerative Disease Research Initiative [ONDRI]) that includes genomics, neuroimaging, and assessments of cognition as well as language, speech, gait, retinal imaging, and eye tracking. Disorders studied include Alzheimer's disease, amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease, and vascular cognitive impairment...
December 22, 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28002661/potential-applications-of-the-national-institute-of-mental-health-s-research-domain-criteria-rdoc-to-clinical-psychiatric-practice-how-rdoc-might-be-used-in-assessment-diagnostic-processes-case-formulation-treatment-planning-and-clinical-notes
#18
Joel Yager, Robert E Feinstein
Offering a new framework for understanding and studying basic dimensions of normal and abnormal human functioning and mental disorders, the National Institute of Mental Health (NIMH) has initiated the Research Domain Criteria (RDoC) project in which a series of higher order domains, representing major systems of emotion, cognition, motivation, and social behavior, and their constituent operationally defined constructs serve as organizing templates for further research and inquiry, eg, to discover validated biomarkers and endophenotypes...
December 20, 2016: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/27995817/psychophysiological-endophenotypes-to-characterize-mechanisms-of-known-schizophrenia-genetic-loci
#19
M Liu, S M Malone, U Vaidyanathan, M C Keller, G Abecasis, M McGue, W G Iacono, S I Vrieze
BACKGROUND: Endophenotypes are laboratory-based measures hypothesized to lie in the causal chain between genes and clinical disorder, and to serve as a more powerful way to identify genes associated with the disorder. One promise of endophenotypes is that they may assist in elucidating the neurobehavioral mechanisms by which an associated genetic polymorphism affects disorder risk in complex traits. We evaluated this promise by testing the extent to which variants discovered to be associated with schizophrenia through large-scale meta-analysis show associations with psychophysiological endophenotypes...
December 20, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27993231/neural-markers-in-pediatric-bipolar-disorder-and-familial-risk-for-bipolar-disorder
#20
Jillian Lee Wiggins, Melissa A Brotman, Nancy E Adleman, Pilyoung Kim, Caroline G Wambach, Richard C Reynolds, Gang Chen, Kenneth Towbin, Daniel S Pine, Ellen Leibenluft
OBJECTIVE: Bipolar disorder (BD) is highly heritable. Neuroimaging studies comparing unaffected youth at high familial risk for BD (i.e., those with a first-degree relative with the disorder; termed "high-risk" [HR]) to "low-risk" (LR) youth (i.e., those without a first-degree relative with BD) and to patients with BD may help identify potential brain-based markers associated with risk (i.e., regions where HR+BD≠LR), resilience (HR≠BD+LR), or illness (BD≠HR+LR). METHOD: During functional magnetic resonance imaging (fMRI), 99 youths (i...
January 2017: Journal of the American Academy of Child and Adolescent Psychiatry
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