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Background: Cognitive deficits are prominent in schizophrenia and represent promising endophenotypes for genetic research.
Methods: The current study investigated the importance of two conceptually distinct genetic aggregates, one based on copy number variations (uncommon deletion burden), and one based on single nucleotide polymorphisms identified in recent risk studies (genetic risk score). The impact of these genetic factors, and their interaction, was examined on cognitive endophenotypes defined by principal component analysis (PCA) in a multi-center sample of 50 patients with schizophrenia and 86 controls. PCA was used to identify three different types of executive function (EF: planning, fluency, and inhibition), and in separate analyses, a measure general cognitive ability (GCA).
Results: Cognitive deficits were prominent among individuals with schizophrenia, but no group differences were evident for either genetic factor. Among patients the deletion burden measures predicted cognitive deficits across the three EF components and GCA. Further, an interaction was noted between the two genetic factors for both EF and GCA and the observed patterns of interaction suggested antagonistic epistasis. In general, the set of genetic interactions examined predicted a substantial portion of variance in these cognitive endophenotypes.
Limitations: Though adequately powered, our sample size is small for a genetic study.
Conclusions: These results draw attention to genetic interactions and the possibility that genetic influences on cognition differ in patients and controls.
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http://dx.doi.org/10.1016/j.schres.2014.03.022 | DOI Listing |
BMC Neurol
December 2024
Department of Neurology, The Affiliated Changsha Central Hospital, University of South China, No. 161 Shaoshan South Road, Changsha, 410004, Hunan, China.
Background: Stroke is the main cause of death and disability. Post-stroke cognitive impairment (PSCI) is one of the most severe complications of stroke, which lacks effective biomarkers for its early detection.
Objective: This study evaluated the significance of lncRNA SIX3OS1 in acute stroke and PSCI aiming to identify a novel biomarker.
Eur J Surg Oncol
December 2024
Department of Anatomy, Faculty of Medicine and Surgery, University of Malta, Malta.
Introduction: Ovarian cancer remains a leading cause of mortality among gynecological malignancies, often diagnosed at advanced stages due to nonspecific symptoms and limited screening tools. Standard treatment, including cytoreductive surgery and chemotherapy, can cause fatigue, physical dysfunction, and psychological distress, impacting quality of life. Exercise interventions have shown potential to mitigate these effects, but inconsistent methodologies in randomized controlled trials (RCTs) limit reliable conclusions and clinical integration.
View Article and Find Full Text PDFInt Immunopharmacol
December 2024
Key Laboratory of Basic and Application Research of Beiyao (Heilongjiang University of Chinese Medicine), Ministry of Education, China; Traditional Chinese Medicine (TCM) Biological Genetics (Heilongjiang Province Double First-class Construction Interdiscipline, China. Electronic address:
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by the deposition of beta-amyloid (Aβ) peptides. Microglia-mediated neuroinflammation is one of the primary contributors to the pathogenesis of AD. Withanolides, the main constituents in the leaves of Datura stramonium L.
View Article and Find Full Text PDFAm J Chin Med
December 2024
Heilongjiang University of Chinese Medicine, Harbin, Heilongjiang 150040, P. R. China.
Alzheimer's disease (AD), the predominant form of dementia, is a neurodegenerative disorder of the central nervous system (CNS) characterized by a subtle onset and a spectrum of cognitive and functional declines. The clinical manifestation of AD encompasses memory deficits, cognitive deterioration, and behavioral disturbances, culminating in a severe impairment of daily living skills. Despite its high prevalence, accounting for 60-70% of all dementia cases, there remains an absence of curative therapeutics.
View Article and Find Full Text PDFHorm Behav
December 2024
Department of Psychological and Brain Sciences, University of Massachusetts Amherst, Amherst, MA, United States of America.
Menopausal symptoms of sleep disturbances, cognitive deficits, and hot flashes are understudied, in part due to the lack of animal models in which they co-occur. Common marmosets (Callithrix jacchus) are valuable nonhuman primates for studying these symptoms, and we examined changes in cognition (reversal learning), sleep (48 h/wk of sleep recorded by telemetry), and thermoregulation (nose temperature in response to mild external warming) in middle-aged, surgically-induced menopausal marmosets studied at baseline, during 3-week phases of ethinyl estradiol (EE, 4 μg/kg/day, p.o.
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