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Psychiatric Genetics

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https://www.readbyqxmd.com/read/28452824/analysis-of-shared-homozygosity-regions-in-saudi-siblings-with-attention-deficit-hyperactivity-disorder
#1
Jameela M A Shinwari, Eman A A Al Yemni, Faten M Alnaemi, Dejene Abebe, Basma S Al-Abdulaziz, Bashayer R Al Mubarak, Mohammad Ghaziuddin, Nada A Al Tassan
AIM: Genetic and clinical complexities are common features of most psychiatric illnesses that pose a major obstacle in risk-gene identification. Attention deficit hyperactivity disorder (ADHD) is the most prevalent child-onset psychiatric illness, with high heritability. Over the past decade, numerous genetic studies utilizing various approaches, such as genome-wide association, candidate-gene association, and linkage analysis, have identified a multitude of candidate loci/genes. However, such studies have yielded diverse findings that are rarely reproduced, indicating that other genetic determinants have not been discovered yet...
May 8, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28430712/apolipoprotein-e-variants-and-genetic-susceptibility-to-combat-related-post-traumatic-stress-disorder-a-meta-analysis
#2
Yang Roby
BACKGROUND: Apolipoprotein E (APOE) has recently been studied as a risk factor for association with developing combat-related post-traumatic stress disorder (PTSD) in the military population. These studies have yielded inconsistent findings. The present study carried out a meta-analysis to establish whether the APOE polymorphism confers increased susceptibility to combat-related PTSD. METHODS: PubMed, Medline, Embase, PsycInfo, and Google Scholar were searched for potential publications relating to patients with PTSD in military settings with combat exposure...
April 18, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28368970/exploration-of-large-rare-copy-number-variants-associated-with-psychiatric-and-neurodevelopmental-disorders-in-individuals-with-anorexia-nervosa
#3
Zeynep Yilmaz, Jin P Szatkiewicz, James J Crowley, NaEshia Ancalade, Marek K Brandys, Annemarie van Elburg, Carolien G F de Kovel, Roger A H Adan, Anke Hinney, Johannes Hebebrand, Monica Gratacos, Fernando Fernandez-Aranda, Georgia Escaramis, Juan R Gonzalez, Xavier Estivill, Eleftheria Zeggini, Patrick F Sullivan, Cynthia M Bulik
Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Following stringent quality control procedures, we investigated whether pathogenic CNVs in regions previously implicated in psychiatric and neurodevelopmental disorders were present in AN cases. We observed two instances of the well-established pathogenic CNVs in AN cases...
March 31, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28346242/genetic-variation-in-gabr%C3%AE-1-and-the-risk-for-developing-alcohol-dependence
#4
William A McCabe, Michael J Way, Kush Ruparelia, Susanne Knapp, M Adam Ali, Quentin M Anstee, Howard C Thomas, Andrew McQuillin, Marsha Y Morgan
Associations between the γ-aminobutyric acid type-A receptors (GABAA) and alcohol dependence risk have been reported, although the receptor subunit driving the association is unclear. Recent work in mice has highlighted a possible role for variants in the Gabr β1 subunit (Gabrβ1) in alcohol dependence risk, although this gene does not contain any common nonsynonymous variants in humans. However, the GABAA receptor is a heteropentamer so multiple potential variants within the gene complex could generate the alcohol dependence phenotype...
June 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28272116/l-methylfolate-supplementation-in-a-child-with-autism-and-methyltetrahydrofolate-reductase-enzyme-gene-c677tt-allele
#5
Kim S Siscoe, W David Lohr
Errors in folate metabolism may play a role in the pathology of autism spectrum disorders because of increased vulnerability to oxidative stress. We report a case where L-methylfolate supplementation improved symptoms of aggression and disruptive behavior in a child with autism who tested positive for the C677TT allele of the methyltetrahydrofolate reductase enzyme gene. To our knowledge, this is the first report of L-methylfolate administration in this situation. Further controlled studies of L-methylfolate in this population are warranted...
June 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28272115/further-evidence-for-genetic-variation-at-the-serotonin-transporter-gene-slc6a4-contributing-toward-anxiety
#6
Andreas J Forstner, Stefanie Rambau, Nina Friedrich, Kerstin U Ludwig, Anne C Böhmer, Elisabeth Mangold, Anna Maaser, Timo Hess, Alexandra Kleiman, Antje Bittner, Markus M Nöthen, Jessica Becker, Franziska Geiser, Johannes Schumacher, Rupert Conrad
OBJECTIVES: Social anxiety disorder (SAD) is a common and heritable psychiatric disorder. However, genetic studies in SAD are rare and only a few candidate genes have been implicated so far. In the present study, we investigated whether single-nucleotide polymorphisms (SNPs) associated with other psychiatric disorders also contribute toward the development of SAD and followed up variants associated with SAD on the phenotypic level. PATIENTS AND METHODS: We genotyped a total of 24 SNPs in a German sample of 321 SAD patients and 804 controls...
June 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#7
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
June 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28225367/progranulin-gene-variation-affects-serum-progranulin-levels-differently-in-danish-bipolar-individuals-compared-with-healthy-controls
#8
Henriette N Buttenschøn, Marit N Nielsen, Gangadaar Thotakura, Chris W Lee, Anders Nykjær, Ole Mors, Simon Glerup
OBJECTIVES: The identification of peripheral biomarkers for bipolar disorder is of great importance and has the potential to improve diagnosis, treatment and prognosis. Recent studies have reported lower plasma progranulin levels in bipolar individuals compared with controls and association with single nucleotide polymorphisms (SNPs) within the progranulin gene (GRN). In the present study, we investigated the effect of GRN and sortilin (SORT1) gene variation on serum progranulin levels in bipolar individuals and controls...
June 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28178086/identification-of-rare-nonsynonymous-variants-in-syne1-cpg2-in-bipolar-affective-disorder
#9
Sally I Sharp, Jenny Lange, Radhika Kandaswamy, Mazen Daher, Adebayo Anjorin, Nicholas J Bass, Andrew McQuillin
BACKGROUND: Bipolar affective disorder (BPD) is a severe mood disorder with a prevalence of ∼1.5% in the population. The pathogenesis of BPD is poorly understood; however, a strong heritable component has been identified. Previous genome-wide association studies have indicated a region on 6q25, coding for the SYNE1 gene, which increases disease susceptibility. SYNE1 encodes the synaptic nuclear envelope protein-1, nesprin-1. A brain-specific splice variant of SYNE1, CPG2 encoding candidate plasticity gene 2, has been identified...
June 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28118293/common-variants-in-slc6a2-slc6a3-drd2-and-major-depressive-disorder-an-association-study-in-the-chinese-han-population
#10
Yan Bi, Xiaoye Huang, Weibo Niu, Shiqing Chen, Xi Wu, Yanfei Cao, Rui Zhang, Fengping Yang, Lu Wang, Weidong Li, Yifeng Xu, Lin He, Tao Yu, Guang He, Xingwang Li
No abstract text is available yet for this article.
June 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28212207/summaries-of-plenary-and-selected-symposia-sessions-at-the-xxiv-world-congress-of-psychiatric-genetics-jerusalem-israel-30-october-2016-3-november-2016
#11
Liliana G Ciobanu, Anil P S Ori, Luca Pagliaroli, Renato Polimanti, Leticia M Spindola, John B Vincent, Freida K Cormack
The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Jerusalem, Israel, from 30 October 2016 to 3 November 2016. A total of 372 participants gathered to discuss the latest findings in the field. The following report was written by early career investigator travel awardees, and student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the presentations during the conference, and contains some of the major notable new findings reported...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28187106/association-between-nat2-polymorphisms-and-the-risk-of-schizophrenia-in-a-northern-chinese-han-population
#12
Zhilin Luan, Tianlan Lu, Weihua Yue, Sjef Copray, Dai Zhang
The gene that encodes N-acetyltransferase 2 (NAT2), an enzyme that plays a crucial role in the metabolism of many drugs and xenobiotics, is located on chromosome 8p22, one of the most convictive susceptibility loci of schizophrenia. NAT2 genetic polymorphisms lead to various enzyme acetylation phenotypes. In the present study, six selected NAT2 exonic single nucleotide polymorphisms were genotyped in an independent case-control sample of a Northern Chinese Han population to verify the possible association between NAT2 and schizophrenia...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28125460/varscan2-analysis-of-de-novo-variants-in-monozygotic-twins-discordant-for-schizophrenia
#13
Emma Reble, Christina A Castellani, Melkaye G Melka, Richard O'Reilly, Shiva M Singh
OBJECTIVES: Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The challenge is using effective approaches to identify relevant differences that may cause or contribute toward disease discordance. PARTICIPANTS AND METHODS: This study carried out a VarScan2 bioinformatic analysis and a pathway analysis on whole-genome sequences from two sets of monozygotic twins...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28027116/association-study-of-grm7-polymorphisms-with-major-depressive-disorder-in-the-chinese-han-population
#14
Weibo Niu, Xiaoye Huang, Tao Yu, Shiqing Chen, Xingwang Li, Xi Wu, Yanfei Cao, Rui Zhang, Yan Bi, Fengping Yang, Lu Wang, Weidong Li, Yifeng Xu, Lin He, Guang He
No abstract text is available yet for this article.
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27893590/association-study-of-the-glrx5-rs1007814-polymorphism-with-schizophrenia-in-the-han-chinese-population
#15
Beimeng Yang, Weibo Niu, Shiqing Chen, Fei Xu, Xingwang Li, Xi Wu, Yanfei Cao, Rui Zhang, Fengping Yang, Lu Wang, Weidong Li, Yifeng Xu, Lin He, Guang He
No abstract text is available yet for this article.
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27824727/definition-of-a-putative-pathological-region-in-park2-associated-with-autism-spectrum-disorder-through-in-silico-analysis-of-its-functional-structure
#16
Inês C Conceição, Maria M Rama, Bárbara Oliveira, Cátia Café, Joana Almeida, Susana Mouga, Frederico Duque, Guiomar Oliveira, Astrid M Vicente
OBJECTIVE: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson's disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and neurodegenerative brain processes. The present study aimed to define the critical regions for NDD within PARK2...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27776093/diagnostic-interview-for-genetic-studies-validity-and-reliability-of-the-croatian-version
#17
Žana Kralj, Milenka Dedić, Anđela Kovačević, Mario Malički, Jelena Dedić, Marina Pelivan, Dubravka Vuković, Carrie Fisher, Rachel L Kember, John Nurnberger, Maja Bućan, Dolores Britvić
OBJECTIVE: To test the validity and reliability of the Diagnostic Interview for Genetic Studies (DIGS) in patients with mental illness in Croatia. MATERIALS AND METHODS: Following translation, back-translation, and pilot testing, the Croatian version of DIGS (CRO-DIGS) was administered to a total of 150 inpatients and outpatients diagnosed at the Clinical Hospital in Split with bipolar and major depressive disorder (n=56), schizophrenia and schizoaffective disorder (n=62), and alcohol dependence or use disorders (n=32)...
February 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27584037/association-between-neuropeptide-y-receptor-y2-promoter-variant-rs6857715-and-major-depressive-disorder
#18
Jens Treutlein, Jana Strohmaier, Josef Frank, Stephanie H Witt, Liz Rietschel, Andreas J Forstner, Maren Lang, Franziska Degenhardt, Helene Dukal, Stefan Herms, Fabian Streit, Per Hoffmann, Sven Cichon, Markus M Nöthen, Marcella Rietschel
Stress increases the risk for major depressive disorder (MDD), overeating, and alcohol dependence (AD). The neuropeptide Y system is one of the best-known modulators of the stress response, and some of its effects are mediated through the neuropeptide Y receptor Y2 (NPY2R). The functional NPY2R variant rs6857715 (C-599T) has been implicated in both obesity and AD, but with opposing alleles. The present study explored whether rs6857715 is also associated with MDD. Analysis of the overall sample (595 MDD cases; 1295 controls) showed an association with the AD risk allele C [P=0...
February 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27574960/family-based-genetic-association-study-of-cntnap2-polymorphisms-and-sociality-endophenotypes-in-korean-patients-with-autism-spectrum-disorders
#19
Hee Jeong Yoo, Boong-Nyun Kim, Jae-Won Kim, Min-Sup Shin, Tae-Won Park, Jung-Woo Son, Un-Sun Chung, Mira Park, Soon Ae Kim
No abstract text is available yet for this article.
February 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27755291/clinical-utility-of-folate-pathway-genetic-polymorphisms-in-the-diagnosis-of-autism-spectrum-disorders
#20
Naushad Shaik Mohammad, P Sai Shruti, Venkat Bharathi, Chintakindi Krishna Prasad, Tajamul Hussain, Salman A Alrokayan, Usha Naik, Akella Radha Rama Devi
BACKGROUND: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD. PATIENTS AND METHODS: An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk...
December 2016: Psychiatric Genetics
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