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Genetic* and psych*

Marco Armando, Corrado Sandini, Maelle Chambaz, Marie Schaer, Maude Schneider, Stephan Eliez
Converging evidence suggests that psychosis emerges from the complex interaction of genetic and environmental factors. Stressful life events (SLEs) play a prominent role in combination with coping strategies and with a dysfunctional hypothalamus-pituitary-adrenal axis (HPAA). It has been proposed that the framework of schizotypy might help disentangle the interaction between genetic and environmental factors in the pathogenesis of psychosis. Similarly, 22q11.2 deletion syndrome (22q11DS) is considered as a genetic model of psychosis vulnerability...
March 14, 2018: Schizophrenia Bulletin
Zoë W Hawks, Natasha Marrus, Anne L Glowinski, John N Constantino
Previous research has suggested that behavioral comorbidity is the rule rather than the exception in autism. The present study aimed to trace the respective origins of autistic and general psychopathologic traits-and their association-to infancy. Measurements of autistic traits and early liability for general psychopathology were assessed in 314 twins at 18 months, ascertained from the general population using birth records. 222 twins were re-evaluated at 36 months. Standardized ratings of variation in social communication at 18 months were highly heritable and strongly predicted autistic trait scores at 36 months...
March 16, 2018: Journal of Abnormal Child Psychology
Jiayu Chen, Barnaly Rashid, Qingbao Yu, Jingyu Liu, Dongdong Lin, Yuhui Du, Jing Sui, Vince D Calhoun
Imaging genetics posits a valuable strategy for elucidating genetic influences on brain abnormalities in psychiatric disorders. However, association analysis between 2D genetic data (subject × genetic variable) and 3D first-level functional magnetic resonance imaging (fMRI) data (subject × voxel × time) has been challenging given the asymmetry in data dimension. A summary feature needs to be derived for the imaging modality to compute inter-modality association at subject level. In this work, we propose to use variability in resting state networks (RSNs) and functional network connectivity (FNC) as potential features for purpose of association analysis...
2018: Frontiers in Neuroscience
Jordan W Smoller, Ole A Andreassen, Howard J Edenberg, Stephen V Faraone, Stephen J Glatt, Kenneth S Kendler
In the Table 1 legend, the reference numbers and symbols were not correctly presented in the footnotes. The corrected footnotes are presented below.
March 14, 2018: Molecular Psychiatry
Michelle Chang, Lin He, Lei Cai
Genome-wide association study (GWAS) is a powerful study design to identify genetic variants of a trait and, in particular, detect the association between common single-nucleotide polymorphisms (SNPs) and common human diseases such as heart disease, inflammatory bowel disease, type 2 diabetes, and psychiatric disorders. The standard strategy of population-based case-control studies for GWAS is illustrated in this chapter. We provide an overview of the concepts underlying GWAS, as well as provide guidelines for statistical methods performed in GWAS...
2018: Methods in Molecular Biology
Arezou Sayad, Rezvan Noroozi, Zahra Khodamoradi, Mir Davood Omrani, Mohammad Taheri, Soudeh Ghafouri-Fard
Genetic association studies have linked suicide behavior with genes encoding transporters of monoamine. Variants in the vesicular monoamine transporter 1 (VMAT1) have been previously shown to be associated with several psychiatric disorders including schizophrenia and bipolar disorder. However, their association with suicide behavior has not been explored. In the present study, we genotyped three single-nucleotide polymorphisms (rs2270637, rs1390938, and rs2279709) within this gene in 100 individuals who attempted suicide, 236 suicide victims, and 300 control subjects without any history of psychiatric disorders or suicide ideation...
March 14, 2018: Journal of Molecular Neuroscience: MN
Johan Bester, Maya Sabatello, Clara D M van Karnebeek, John D Lantos
A 38-year-old woman is diagnosed with Li-Fraumeni syndrome, an autosomal dominant genetic condition that predisposes to a variety of cancers. The woman has an 11-year-old daughter. The geneticist recommends that the child be tested for the Li-Fraumeni genetic variant. The mother is concerned about the impact of testing and diagnosis on Karen's psychological well-being. She describes Karen as "highly strung" and as "a worrier." The child has been diagnosed with an anxiety disorder and is managed by a psychologist for counseling...
March 13, 2018: Pediatrics
Belinda Rahman, Anne Lanceley, Rebecca S Kristeleit, Jonathan A Ledermann, Michelle Lockley, Mary McCormack, Tim Mould, Lucy Side
BACKGROUND: Ovarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2 genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as poly ADP ribose polymerase (PARP) inhibitors. Implementation of systematic genetic testing of patients with ovarian cancer via oncology clinics (mainstreamed genetic testing, MGT) is increasing...
March 13, 2018: Journal of Medical Genetics
Yong-Ku Kim, Byung-Joo Ham, Kyu-Man Han
The etiology of depression is characterized by the interplay of genetic and environmental factors and brain structural alteration. Childhood adversity is a major contributing factor in the development of depression. Interactions between childhood adversity and candidate genes for depression could affect brain morphology via the modulation of neurotrophic factors, serotonergic neurotransmission, or the hypothalamus-pituitary-adrenal (HPA) axis, and this pathway may explain the subsequent onset of depression...
March 10, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
Marja Visser, Trudie Gerrits, Fulco van der Veen, Monique Mochtar
When intended parents choose to have donor sperm treatment (DST), this may entail wide-ranging and long-lasting psychosocial implications related to the social parent not having a genetic tie with the child, how to disclose donor-conception and future donor contact. Counselling by qualified professionals is recommended to help intended parents cope with these implications. The objective of this study is to present findings and insights about how counsellors execute their counselling practices. We performed a qualitative study that included 13 counsellors working in the 11 clinics offering DST in the Netherlands...
March 14, 2018: Human Fertility: Journal of the British Fertility Society
Amanda B Zheutlin, Adam M Chekroud, Renato Polimanti, Joel Gelernter, Fred W Sabb, Robert M Bilder, Nelson Freimer, Edythe D London, Christina M Hultman, Tyrone D Cannon
Genetic risk variants for schizophrenia have been linked to many related clinical and biological phenotypes with the hopes of delineating how individual variation across thousands of variants corresponds to the clinical and etiologic heterogeneity within schizophrenia. This has primarily been done using risk score profiling, which aggregates effects across all variants into a single predictor. While effective, this method lacks flexibility in certain domains: risk scores cannot capture nonlinear effects and do not employ any variable selection...
March 9, 2018: Schizophrenia Bulletin
Claudio Toma, Alex D Shaw, Richard J N Allcock, Anna Heath, Kerrie D Pierce, Philip B Mitchell, Peter R Schofield, Janice M Fullerton
Bipolar disorder (BD) is a complex psychiatric condition with high heritability, the genetic architecture of which likely comprises both common variants of small effect and rare variants of higher penetrance, the latter of which are largely unknown. Extended families with high density of illness provide an opportunity to map novel risk genes or consolidate evidence for existing candidates, by identifying genes carrying pathogenic rare variants. We performed whole-exome sequencing (WES) in 15 BD families (117 subjects, of whom 72 were affected), augmented with copy number variant (CNV) microarray data, to examine contributions of multiple classes of rare genetic variants within a familial context...
March 13, 2018: Translational Psychiatry
Rakshak Kumar, Vishal Acharya, Srijana Mukhia, Dharam Singh, Sanjay Kumar
Pseudomonas frederiksbergensis ERDD5:01 is a psychrotrophic bacteria isolated from the glacial stream flowing from East Rathong glacier in Sikkim Himalaya. The strain showed survivability at high altitude stress conditions like freezing, frequent freeze-thaw cycles, and UV-C radiations. The complete genome of 5,746,824 bp circular chromosome and a plasmid of 371,027 bp was sequenced to understand the genetic basis of its survival strategy. Multiple copies of cold-associated genes encoding cold active chaperons, general stress response, osmotic stress, oxidative stress, membrane/cell wall alteration, carbon storage/starvation and, DNA repair mechanisms supported its survivability at extreme cold and radiations corroborating with the bacterial physiological findings...
March 9, 2018: Genomics
Loren Leclezio, Sugnet Gardner-Lubbe, Petrus J de Vries
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with multisystem involvement. The lifetime prevalence of TSC-Associated Neuropsychiatric Disorders (TAND) is in the region of 90% in an apparently unique, individual pattern. This "uniqueness" poses significant challenges for diagnosis, psycho-education, and intervention planning. To date, no studies have explored whether there may be natural clusters of TAND. The purpose of this feasibility study was (1) to investigate the practicability of identifying natural TAND clusters, and (2) to identify appropriate multivariate data analysis techniques for larger-scale studies...
January 31, 2018: Pediatric Neurology
Timothy C Bates, Brion S Maher, Sarah E Medland, Kerrie McAloney, Margaret J Wright, Narelle K Hansell, Kenneth S Kendler, Nicholas G Martin, Nathan A Gillespie
Research on environmental and genetic pathways to complex traits such as educational attainment (EA) is confounded by uncertainty over whether correlations reflect effects of transmitted parental genes, causal family environments, or some, possibly interactive, mixture of both. Thus, an aggregate of thousands of alleles associated with EA (a polygenic risk score; PRS) may tap parental behaviors and home environments promoting EA in the offspring. New methods for unpicking and determining these causal pathways are required...
March 13, 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Sumit Mistry, Judith R Harrison, Daniel J Smith, Valentina Escott-Price, Stanley Zammit
BACKGROUND: Identifying the phenotypic manifestations of increased genetic liability for depression (MDD) and bipolar disorder (BD) can enhance understanding of their aetiology. The polygenic risk score (PRS) derived using data from genome-wide-association-studies can be used to explore how genetic risk is manifest in different samples. AIMS: In this systematic review, we review studies that examine associations between the MDD and BD polygenic risk scores and phenotypic outcomes...
February 15, 2018: Journal of Affective Disorders
Clement C Zai, Arun K Tiwari, Gwyneth C Zai, Miriam S Maes, James L Kennedy
PURPOSE OF REVIEW: This review highlights recent advances in the investigation of genetic factors for antipsychotic response and side effects. RECENT FINDINGS: Antipsychotics prescribed to treat psychotic symptoms are variable in efficacy and propensity for causing side effects. The major side effects include tardive dyskinesia, antipsychotic-induced weight gain (AIWG), and clozapine-induced agranulocytosis (CIA). Several promising associations of polymorphisms in genes including HSPG2, CNR1, and DPP6 with tardive dyskinesia have been reported...
March 9, 2018: Current Opinion in Psychiatry
Susan S Kuo, Laura Almasy, Ruben C Gur, Konasale Prasad, David R Roalf, Raquel E Gur, Vishwajit L Nimgaonkar, Michael F Pogue-Geile
Although cognition is one of the most important predictors of community functioning in schizophrenia, little is known about the causes of this correlation. To our knowledge, this study is the first to examine the extent to which this correlation is genetically mediated and whether the genetic correlation is specific to schizophrenia. Six hundred thirty-six participants from 43 multigenerational families with at least two relatives with schizophrenia and 135 unrelated controls underwent diagnostic interview and cognition and functioning assessment...
February 2018: Journal of Abnormal Psychology
John N Booth, Man Li, Daichi Shimbo, Rachel Hess, Marguerite R Irvin, Rick Kittles, James G Wilson, Lynn B Jorde, Alfred K Cheung, Leslie A Lange, Ethan M Lange, Yuichiro Yano, Paul Muntner, Adam P Bress
Background: African Americans have a higher prevalence of nocturnal hypertension and non-dipping blood pressure than European Americans, but the genetic contribution to these racial differences remains unclear. We assessed the association of the percentage West African genetic ancestry with nocturnal hypertension and non-dipping blood pressure in 932 African Americans from the Jackson Heart Study. Methods: Using percentage West African ancestry determined from 389 ancestry informative markers, participants were categorized into tertiles (Tertile 1 [low]: <79...
March 8, 2018: American Journal of Hypertension
Marjan Biria, Miralena I Tomescu, Anna Custo, Lucia M Cantonas, Kun-Wei Song, Maude Schneider, Micah M Murray, Stephan Eliez, Christoph M Michel, Tonia A Rihs
Carriers of the rare 22q11.2 microdeletion present with a high percentage of positive and negative symptoms and a high genetic risk for schizophrenia. Visual processing impairments have been characterized in schizophrenia, but less so in 22q11.2 Deletion Syndrome (DS). Here, we focus on visual processing using high-density EEG and source imaging in 22q11.2DS participants (N = 25) and healthy controls (N = 26) with an illusory contour discrimination task. Significant differences between groups emerged at early and late stages of visual processing...
2018: NeuroImage: Clinical
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