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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/30070057/a-longitudinal-approach-to-biological-psychiatric-research-the-psycourse-study
#1
Monika Budde, Heike Anderson-Schmidt, Katrin Gade, Daniela Reich-Erkelenz, Kristina Adorjan, Janos L Kalman, Fanny Senner, Sergi Papiol, Till F M Andlauer, Ashley L Comes, Eva C Schulte, Farah Klöhn-Saghatolislam, Anna Gryaznova, Maria Hake, Kim Bartholdi, Laura Flatau, Markus Reitt, Silke Quast, Sophia Stegmaier, Milena Meyers, Barbara Emons, Ida Sybille Haußleiter, Georg Juckel, Vanessa Nieratschker, Udo Dannlowski, Sabrina K Schaupp, Max Schmauß, Jörg Zimmermann, Jens Reimer, Sybille Schulz, Jens Wiltfang, Eva Reininghaus, Ion-George Anghelescu, Volker Arolt, Bernhard T Baune, Carsten Konrad, Andreas Thiel, Andreas J Fallgatter, Christian Figge, Martin von Hagen, Manfred Koller, Fabian U Lang, Moritz E Wigand, Thomas Becker, Markus Jäger, Detlef E Dietrich, Sebastian Stierl, Harald Scherk, Carsten Spitzer, Here Folkerts, Stephanie H Witt, Franziska Degenhardt, Andreas J Forstner, Marcella Rietschel, Markus M Nöthen, Peter Falkai, Thomas G Schulze, Urs Heilbronner
In current diagnostic systems, schizophrenia and bipolar disorder are still conceptualized as distinct categorical entities. Recently, both clinical and genomic evidence have challenged this Kraepelinian dichotomy. There are only few longitudinal studies addressing potential overlaps between these conditions. Here, we present design and first results of the PsyCourse study (N = 891 individuals at baseline), an ongoing transdiagnostic study of the affective-to-psychotic continuum that combines longitudinal deep phenotyping and dimensional assessment of psychopathology with an extensive collection of biomaterial...
August 2, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30105860/a-comparative-study-of-magnetic-resonance-imaging-on-the-gray-matter-and-resting-state-function-in-prodromal-and-first-episode-schizophrenia
#2
Nan Lian, Hailong Lv, Wenbing Guo, Yidong Shen, Renlong Wu, Yong Liu, Furong Zhu, Maorong Hu, Jianjun Ou, Jingping Zhao
It is very difficult to predict the future development possibility of schizophrenia through the clinical symptoms of the high-risk cases. Therefore, how to determine the possibility of developing into schizophrenia individuals before the onset of the diseases are particularly important. The study investigated cerebral gray matter volume differences and resting-state functional connections among patients with psychosis risk syndrome (PRS), patients with first-episode schizophrenic (FES), and healthy controls (HC), aiming to provide scientific clinical evidence for schizophrenia early identification and intervention...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30105822/the-noncoding-rna-ak127244-in-2p16-3-locus-a-new-susceptibility-region-for-neuropsychiatric-disorders
#3
Ambra Rizzo, Enrico Alfei, Federica Zibordi, Veronica Saletti, Giovanna Zorzi, Elena Freri, Margherita Estienne, Vita Girgenti, Stefano D'Arrigo, Silvia Esposito, Barbara Buldrini, Isabella Moroni, Donatella Milani, Tiziana Granata, Anna Ardissone, Marica Eoli, Bruna Molteni, Stefania Bigoni, Chiara Pantaleoni, Nardo Nardocci, Francesca Luisa Sciacca
The presence of redundant copy number variants (CNVs) in groups of patients with neurological diseases suggests that these variants could have pathogenic effect. We have collected array comparative genomic hybridization (CGH) data of about 2,500 patients affected by neurocognitive disorders and we observed that CNVs in 2p16.3 locus were as frequent as those in 15q11.2, being both the most frequent unbalances in our cohort of patients. Focusing to 2p16.3 region, unbalances involving NRXN1 coding region have been already associated with neuropsychiatric disorders, although with incomplete penetrance, but little is known about CNVs located proximal to the gene, in the long noncoding RNA AK127244...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30105773/microrna-and-mrna-profiles-in-nucleus-accumbens-underlying-depression-versus-resilience-in-response-to-chronic-stress
#4
Yawei Si, Zhenhua Song, Xiaoyan Sun, Jin-Hui Wang
Major depression in negative mood is presumably induced by chronic stress with lack of reward. However, most individuals who experience chronic stress demonstrate resilience. Molecular mechanisms underlying stress- induced depression versus resilience remain unknown, which are investigated in brain reward circuits. Mice were treated by chronic unpredictable mild stress (CUMS) for 4 weeks. The tests of sucrose preference, Y-maze, and forced swimming were used to identify depression-like emotion behavior or resilience...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30076746/a-rare-exonic-nrxn3-deletion-segregating-with-neurodevelopmental-and-neuropsychiatric-conditions-in-a-three-generation-chinese-family
#5
Haiming Yuan, Qingming Wang, Yanhui Liu, Wei Yang, Yi He, James F Gusella, Jiage Song, Yiping Shen
Members of the neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3) encode important components of synaptic function implicated in autism and other neurodevelopmental/neuropsychiatric disorders. Loss of function variants have been reported predominantly in NRXN1, with fewer such variants detected in NRXN2 and NRXN3. Evidence for segregating NRNX3 variants has particularly been lacking. Here, we report identification by chromosomal microarray analysis of a rare exonic deletion affecting the NRXN3 alpha isoform in a three-generation Chinese family...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30076730/metabolomics-in-patients-with-psychosis-a-systematic-review
#6
REVIEW
Christopher Li, Aviva Wang, Chloe Wang, Janani Ramamurthy, Edlyn Zhang, Elena Guadagno, Yannis Trakadis
The purpose of this article is to provide a comprehensive review of metabolomics studies for psychosis, as a means of biomarker discovery. Manuscripts were selected for review if they involved discovery of metabolites using high-throughput analysis in human subjects and were published in the last decade. The metabolites identified were searched in Human Metabolome Data Base (HMDB) for a link to psychosis. Metabolites associated with psychosis based on evidence in HMBD were then searched using PubMed to explore the availability of further evidence...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30070022/exploring-relationships-between-joint-hypermobility-and-neurodevelopment-in-children-4-13-years-with-hereditary-connective-tissue-disorders-and-developmental-coordination-disorder
#7
Caterina Piedimonte, Roberta Penge, Silvia Morlino, Isabella Sperduti, Andrea Terzani, Maria Teresa Giannini, Marina Colombi, Paola Grammatico, Francesco Cardona, Marco Castori
Joint hypermobility (JH) is a common, though largely ignored physical trait with increasing clinical reverberations. A few papers suggest a link between JH and selected neurodevelopmental disorders, such as developmental coordination disorder (DCD). JH is also the hallmark of various hereditary connective tissue disorders (HCTDs). Children with HCTDs may present abnormal neurodevelopment but its manifestations remain undetermined. This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30134085/genome-wide-association-study-of-cognitive-flexibility-assessed-by-the-wisconsin-card-sorting-test
#8
Huiping Zhang, Hang Zhou, Todd Lencz, Lindsay A Farrer, Henry R Kranzler, Joel Gelernter
Cognitive flexibility is a critical component of executive function and is strongly influenced by genetic factors. We conducted a genome-wide association study of cognitive flexibility (as measured by perseverative errors on the Wisconsin Card Sorting Test) in two sets of African American (AA) and European American (EA) subjects (Yale-Penn-1: 1,411 AAs/949 EAs; Yale-Penn-2: 1,178 AAs/1,335 EAs). We examined the association of cognitive flexibility with genotyped or imputed SNPs across the genome. In AAs, two correlated common single nucleotide polymorphisms (SNPs) (rs7165213/rs35633795) in the downstream region of the noncoding gene LOC101927286 on chromosome 15 showed genome-wide significant (GWS) associations with cognitive flexibility (Yale-Penn-1: p = 6...
July 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30134084/chromosome-17q12-duplications-further-delineation-of-the-range-of-psychiatric-and-clinical-phenotypes
#9
Arveen Kamath, Stefanie C Linden, Ffion M Evans, Jeremy Hall, Sian F Jose, Sally A Spillane, Alan D R Hardie, Sian M Morgan, Daniela T Pilz
Copy number variants at chromosome 17q12 have been associated with a spectrum of phenotypes. Deletions of 17q12 are well described and associated with maturity onset diabetes of the young type 5 (MODY5) and cystic renal disease (HNF1β) as well as cognitive impairment and seizures. Duplication of 17q12 is emerging as a new genetic syndrome, associated with learning disability, seizures, and behavioral problems. The duplication is often inherited from an apparently unaffected parent. Here, we describe a three-generation family with multiple individuals carrying a17q12 microduplication with varying clinical features, consistent with variable penetrance...
July 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30134083/associations-between-risk-factors-for-schizophrenia-and-concordance-in-four-monozygotic-twin-samples
#10
Edward J Pepper, Sasi Pathmanathan, Shona McIlrae, Faiz-Ur Rehman, Alastair G Cardno
Concordance for schizophrenia is high in monozygotic twins but the extent to which concordance varies according to the presence of other schizophrenia risk factors is not well established. We aimed to investigate this in systematically ascertained twin samples. DSM-III-R/DSM-IV diagnoses were made from original data or published case histories from four systematically ascertained monozygotic twin samples. Probandwise concordance for schizophrenia was calculated according to the presence of psychotic disorder in first-degree relatives, birth order, gender, and age-at-onset...
July 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29745998/mthfr-regulatory-effects-on-methylation-of-cg05575921-in-response-to-smoking-effects-are-also-discernable-using-mthfr-expression
#11
LETTER
Steven R H Beach, Man Kit Lei, Ronald L Simons, Meeshanthini V Dogan, Frederick X Gibbons, Robert A Philibert
No abstract text is available yet for this article.
July 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704316/genome-wide-and-digital-polymerase-chain-reaction-epigenetic-assessments-of-alcohol-consumption
#12
Robert Philibert, Meesha Dogan, Amanda Noel, Shelly Miller, Brianna Krukow, Emma Papworth, Joseph Cowley, April Knudsen, Steven R H Beach, Donald Black
The lack of readily employable biomarkers of alcohol consumption is a problem for clinicians and researchers. In 2014, we published a preliminary DNA methylation signature of heavy alcohol consumption that remits as a function of abstinence. Herein, we present new genome-wide methylation findings from a cohort of additional subjects and a meta-analysis of the data. Using DNA from 47 consecutive heavy drinkers admitted for alcohol detoxification in the context of alcohol treatment and 47 abstinent controls, we replicate the 2014 results and show that 21,221 CpG residues are differentially methylated in active heavy drinkers...
July 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29687944/association-of-copy-number-variation-across-the-genome-with-neuropsychiatric-traits-in-the-general-population
#13
Anna L Guyatt, Evie Stergiakouli, Joanna Martin, James Walters, Michael O'Donovan, Michael Owen, Anita Thapar, George Kirov, Santiago Rodriguez, Dheeraj Rai, Stan Zammit, Tom R Gaunt
Copy number variants (CNVs) are associated with psychiatric conditions in clinical populations. The relationship between rare CNV burden and neuropsychiatric traits in young, general populations is underexplored. A total of 6,807 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) were studied. CNVs were inferred from single nucleotide polymorphism-array data using PennCNV. After excluding children with known candidate CNVs for schizophrenia (SCZ), rare (<1%) CNV burden (total number of genes affected by CNVs, total length of CNVs, and largest CNV carried) was analyzed in relation to: psychotic experiences (PEs) and anxiety/depression in adolescence; autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD), ASD and ADHD traits, and cognitive measures during childhood...
July 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704324/voxel-wise-brain-wide-functional-connectivity-abnormalities-in-first-episode-drug-naive-patients-with-major-depressive-disorder
#14
Xilong Cui, Feng Liu, Jindong Chen, Guangrong Xie, Renrong Wu, Zhikun Zhang, Huafu Chen, Jingping Zhao, Wenbin Guo
Due to different foci and single sample across studies, abnormal functional connectivity (FC) has been implicated in the pathophysiology of major depressive disorder (MDD) with inconsistent results. The inconsistency may reflect a combination of clinical and methodological variability, which leads to limited reproducibility of these findings. The samples included 59 patients with MDD and 31 controls from Sample 1, 29 patients with MDD and 24 controls from Sample 2, and 31 patients with schizophrenia and 37 controls from Sample 3...
June 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704319/a-molecule-based-genetic-association-approach-implicates-a-range-of-voltage-gated-calcium-channels-associated-with-schizophrenia
#15
Wen Li, Chun Chieh Fan, Tuomo Mäki-Marttunen, Wesley K Thompson, Andrew J Schork, Francesco Bettella, Srdjan Djurovic, Anders M Dale, Ole A Andreassen, Yunpeng Wang
Traditional genome-wide association studies (GWAS) have successfully detected genetic variants associated with schizophrenia. However, only a small fraction of heritability can be explained. Gene-set/pathway-based methods can overcome limitations arising from single nucleotide polymorphism (SNP)-based analysis, but most of them place constraints on size which may exclude highly specific and functional sets, like macromolecules. Voltage-gated calcium (Cav ) channels, belonging to macromolecules, are composed of several subunits whose encoding genes are located far away or even on different chromosomes...
June 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704315/epigenetics-and-autism-spectrum-disorder-a-report-of-an-autism-case-with-mutation-in-h1-linker-histone-hist1h1e-and-literature-review
#16
Lara J Duffney, Purnima Valdez, Martine W Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie-Rosell, Yong-Hui Jiang
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basic component in nucleosome packaging and chromatin organization, has not been implicated in human disease until recently. We report a de novo deleterious mutation of histone cluster 1 H1 family member e (HIST1H1E; c.435dupC; p.Thr146Hisfs*50), encoding H1 histone linker protein H1...
June 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29671935/a-data-driven-investigation-of-relationships-between-bipolar-psychotic-symptoms-and-schizophrenia-genome-wide-significant-genetic-loci
#17
Ganna Leonenko, Arianna Di Florio, Judith Allardyce, Liz Forty, Sarah Knott, Lisa Jones, Katherine Gordon-Smith, Michael J Owen, Ian Jones, James Walters, Nick Craddock, Michael C O'Donovan, Valentina Escott-Price
The etiologies of bipolar disorder (BD) and schizophrenia include a large number of common risk alleles, many of which are shared across the disorders. BD is clinically heterogeneous and it has been postulated that the pattern of symptoms is in part determined by the particular risk alleles carried, and in particular, that risk alleles also confer liability to schizophrenia influence psychotic symptoms in those with BD. To investigate links between psychotic symptoms in BD and schizophrenia risk alleles we employed a data-driven approach in a genotyped and deeply phenotyped sample of subjects with BD...
June 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29659143/rasopathies-are-associated-with-a-distinct-personality-profile
#18
Varoona Bizaoui, Jessica Gage, Rita Brar, Katherine A Rauen, Lauren A Weiss
Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls...
June 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29637745/rubinstein-taybi-syndrome-new-neuroradiological-and-neuropsychiatric-insights-from-a-multidisciplinary-approach
#19
Paola F Ajmone, Sabrina Avignone, Cristina Gervasini, Antonella Giacobbe, Fedrico Monti, Antonella Costantino, Susanna Esposito, Paola Marchisio, Fabio Triulzi, Donatella Milani
Rubinstein-Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and great toes are particularly distinctive. Its genetic basis is only partially known, with a detection rate of approximately 65-70%; specifically, microdeletions or mutations in the CREBBP or EP300 genes can be found. Much is known about its clinical features and health-care protocols, but some areas of clinical knowledge are currently unsolved...
June 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29633506/tumor-necrosis-factor-alpha-1031t-c-polymorphism-is-associated-with-cognitive-deficits-in-chronic-schizophrenia-patients-versus-healthy-controls
#20
Mei Hong Xiu, Li-Juan Man, Dong Wang, Xiangdong Du, Guangzhou Yin, Yingyang Zhang, Yun Long Tan, Nan Chen, Song Chen, Antonio L Teixeira, Ryan M Cassidy, Jair C Soares, Xiang Yang Zhang
Recent compelling research has demonstrated a pathophysiologic role for proinflammatory cytokines of microglial origin in decreasing neurocognitive function. Psychiatric diseases are already known to have reduced cognitive function and are also associated with increased inflammation. To elaborate on these data, our study aims to investigate how a particular polymorphism of the tumor necrosis factor gene, TNF-α -1031T/C, affects neurocognitive performance in patients with schizophrenia. We recruited 905 patients with schizophrenia and 571 healthy control subjects...
June 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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