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Psychiatric Genetics

Viola S Palladino, Rhiannon McNeill, Andreas Reif, Sarah Kittel-Schneider
Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder. In recent years, genetic studies have revealed several risk gene variants associated with ADHD; however, these variants could only be partly replicated and are responsible for only a fraction of the whole heritability of ADHD estimated from family and twin studies. One factor that could potentially explain the 'missing heritability' of ADHD is that childhood and adult or persistent ADHD could be genetically distinct subtypes, which therefore need to be analyzed separately...
February 6, 2019: Psychiatric Genetics
Jessica S Suddaby, Josh Silver, Joyce So
The sodium voltage-gated channel α subunit 2 (SCN2A) gene encodes a subunit of sodium voltage-gated channels expressed primarily in the central nervous system that are responsible for action potential initiation and propagation in excitable cells. SCN2A mutations underlie a spectrum of distinct phenotypes, including seizure disorders, neurodevelopmental disorders, and rarer instances of episodic ataxia and schizophrenia. We report on a 38-year-old patient with adult-onset psychotic symptoms on a background of infantile-onset seizures, autistic features and episodic ataxia...
February 6, 2019: Psychiatric Genetics
Giulia Pascolini, Silvia Majore, Michele Valiante, Irene Bottillo, Luigi Laino, Emanuele Agolini, Antonio Novelli, Barbara Grammatico, Mauro Calvani, Paola Grammatico
About one child in 68 is affected by the autism spectrum disorder (ASD), one of the most common neurodevelopmental disorders linked to intellectual disability, especially in males, intellectual disability being diagnosable in about 60-70% of autistic individuals. The biological bases of ASD are not yet fully known, but they are generally considered multifactorial, although many genes and genomic loci have been proposed to be possibly associated with this condition. In this report, we describe the case of a 14-year-old female Italian proband affected by ASD, carrying a novel ∼270 kb interstitial microduplication, localized at the distal portion of the 4q13...
February 4, 2019: Psychiatric Genetics
Kayla Balaj, Lisa Nowinski, Brianna Walsh, Jennifer Mullett, Michelle L Palumbo, Ronald L Thibert, Christopher J McDougle, Christopher J Keary
OBJECTIVES: Angelman syndrome (AS) is a neurogenetic disorder associated with impaired expression of the ubiquitin-protein ligase E3A gene on chromosome 15. AS results in intellectual disability with limited expressive language, epilepsy, ataxia, sleep impairment, and problematic behavior which may include anxiety. Buspirone is a serotonin (5-HT)1A receptor partial agonist used in the treatment of anxiety disorders and may, therefore, have a treatment role for patients with AS. METHODS: We describe three patients who were given open-label buspirone for the treatment of behaviors thought to be related to anxiety...
January 23, 2019: Psychiatric Genetics
Antonia Tsavou, David Curtis
BACKGROUND: Several lines of evidence support the hypothesis that impaired functioning of the glutamatergic N-methyl-D-aspartate receptor (NMDAR) might be involved in the etiology of schizophrenia. NMDAR is activated by phosphorylation by Fyn, and there is also some evidence to suggest that abnormalities in Fyn functionality could also be involved in susceptibility to schizophrenia. In a recent weighted burden analysis of exome-sequenced schizophrenia cases and controls, we noted modest statistical evidence for an enrichment of rare, functional variants in FYN, GRIN1, and GRIN2B in schizophrenia cases...
January 16, 2019: Psychiatric Genetics
Fatih Ozel, Nese Direk, Melike Ataseven Kulali, Ozlem Giray Bozkaya, Emel Ada, Koksal Alptekin
Schizophrenia is a genetically complex disease that is related to neurodevelopmental abnormalities. Several genetic polymorphisms and genetic syndromes associated with neurodevelopmental processes have been linked to schizophrenia. In this case report, we present a case with an association between microcephalic osteodysplastic primordial dwarfism type II and schizophrenia. Microcephalic osteodysplastic primordial dwarfism type II syndrome is a rare, autosomal recessive disease that occurs as a result of the mutations in the pericentrin (PCNT) gene that are responsible for cell cycle and division...
December 6, 2018: Psychiatric Genetics
Michael J McCarthy
Circadian rhythm abnormalities have been recognized as a central feature of bipolar disorder (BD) but a coherent biological explanation for them remains lacking. Using genetic mutation of 'clock genes', robust animal models of mania and depression have been developed that elucidate key aspects of circadian rhythms and the circadian clock-mood connection. However, translation of this knowledge into humans remains incomplete. In recent years, very large genome-wide association studies (GWAS) have been conducted and the genetic underpinnings of BD are beginning to emerge...
December 3, 2018: Psychiatric Genetics
Zhilin Luan, Yang Sun, Yuyuan Li, Wenhua Ming, Ye Zhang
No abstract text is available yet for this article.
February 2019: Psychiatric Genetics
Jiaxin Hu, Yan Bi, Lei Shi, Fei Xu, Fan Yuan, Weibo Niu, Decheng Ren, Zhenming Guo, Fengping Yang, Lin He, Guang He
No abstract text is available yet for this article.
December 2018: Psychiatric Genetics
Yiqing He, Nick Martin, Gu Zhu, Yangyang Liu
OBJECTIVE: Two widely studied genetic polymorphisms in the dopaminergic system [DRD4 exon III variable number of tandem repeat (VNTR) and COMT Val158Met] have been reported to be associated with novelty-seeking, but the results have been highly inconsistent. Therefore, a meta-analysis of the associations between these two polymorphisms and novelty-seeking was conducted. PARTICIPANTS AND METHODS: For DRD4, 24 studies comprising 27 samples and including 4933 participants were selected...
December 2018: Psychiatric Genetics
Zahra I Mohamed, Shiau F Tee, Pek Y Tang
INTRODUCTION: In recent years, various studies have accumulated evidence of the involvement of single nucleotide polymorphisms (SNPs) in introns and exons in schizophrenia. The association of functional SNPs in the 3'-untranslated regions with schizophrenia has been explored in a number of studies, but the results are inconclusive because of limited meta-analyses. To systematically analyze the association between SNPs in 3'-untranslated regions and schizophrenia, we conducted a meta-analysis by combining all available studies on schizophrenia candidate genes...
December 2018: Psychiatric Genetics
Elisa Dalla Vecchia, Niall Mortimer, Viola S Palladino, Sarah Kittel-Schneider, Klaus-Peter Lesch, Andreas Reif, Annette Schenck, William H J Norton
Animal and cellular models are essential tools for all areas of biological research including neuroscience. Model systems can also be used to investigate the pathophysiology of psychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). In this review, we provide a summary of animal and cellular models for three genes linked to ADHD and ASD in human patients - CNTNAP2, ADGRL3, and PARK2. We also highlight the strengths and weaknesses of each model system...
November 9, 2018: Psychiatric Genetics
Xinjun Li, Cecilia Sjöstedt, Jan Sundquist, Bengt Zöller, Kristina Sundquist
AIMS: In the era of genome-wide association studies, familial risks are used to estimate disease heritability and success in gene identification. We wanted to estimate associations of 42 autoimmune diseases with attention-deficit hyperactivity disorder (ADHD) between individuals and family members. PARTICIPANTS AND METHODS: The availability of a Multigeneration Register in Sweden provides reliable access to family data that covers the last century. An open cohort design of the diseases in individual and family members was obtained through linkage to the Hospital Discharge Register...
November 6, 2018: Psychiatric Genetics
David Curtis
BACKGROUND: The polygenic risk score (PRS) for schizophrenia, derived from very large numbers of weakly associated genetic markers, has been repeatedly shown to be robustly associated with schizophrenia in independent samples and also with other diseases and traits. AIM: This study aims to explore the distribution of the schizophrenia PRS in subjects of different ancestry. METHODS: The schizophrenia PRS derived from the large genome-wide association study carried out by the Psychiatric Genetics Consortium was calculated using the downloaded genotypes of HapMap subjects from 11 different ancestral groups...
October 2018: Psychiatric Genetics
Becky Inkster, Andy Simmons, James H Cole, Erwin Schoof, Rune Linding, Tom Nichols, Pierandrea Muglia, Florian Holsboer, Philipp G Sämann, Peter McGuffin, Cynthia H Y Fu, Kamilla Miskowiak, Paul M Matthews, Gwyneth Zai, Kristin Nicodemus
OBJECTIVE: Glycogen synthase kinase 3β (GSK3β) has been implicated in mood disorders. We previously reported associations between a GSK3β polymorphism and hippocampal volume in major depressive disorder (MDD). We then reported similar associations for a subset of GSK3β-regulated genes. We now investigate an algorithm-derived comprehensive list of genes encoding proteins that directly interact with GSK3β to identify a genotypic network influencing hippocampal volume in MDD. PARTICIPANTS AND METHODS: We used discovery (N=141) and replication (N=77) recurrent MDD samples...
October 2018: Psychiatric Genetics
Fabian Streit, Jens Treutlein, Ulrich Frischknecht, Derik Hermann, Karl Mann, Falk Kiefer, Markus Sack, Alisha S M Hall, Josef Frank, Stephanie H Witt, Jerome C Foo, Franziska Degenhardt, Stefanie Heilmann-Heimbach, Markus M Nöthen, Wolfgang H Sommer, Rainer Spanagel, Marcella Rietschel, Gabriele Ende
No abstract text is available yet for this article.
October 2018: Psychiatric Genetics
Kanako Ishizuka, Hiroki Kimura, Itaru Kushima, Toshiya Inada, Yuko Okahisa, Masashi Ikeda, Nakao Iwata, Daisuke Mori, Branko Aleksic, Norio Ozaki
Enhanced carbonyl stress has been observed in a subgroup of patients with schizophrenia. Glyoxalase I, which is encoded by GLO1, is an enzyme that protects against carbonyl stress. In this study, we focused on the association between rare genetic variants of GLO1 and schizophrenia. First, we identified one heterozygous frameshift variant, p.P122fs, in 370 Japanese schizophrenia cases with allele frequencies of up to 1% by exon-targeted mutation screening of GLO1. We then performed an association analysis on 1282 cases and 1764 controls with this variant...
October 2018: Psychiatric Genetics
Antonia Eirich, Teresa Biermann, Christian P Müller, Johannes Kornhuber, Beben Benyamin, Gary K Hulse, Dieter B Wildenauer, Sibylle G Schwab
OBJECTIVES: Susceptibility to heroin dependence is strongly influenced by genetic factors with heritability estimates as high as 0.7. A number of genes, as well as environmental factors, are likely to contribute to its etiology. Not all individuals who have ever tried heroin at some stage during their lifetime become dependent on heroin. It has been suggested that genetic factors might be more important in the transition stage to heroin dependence rather than in environmental exposures and experimenting with heroin...
September 26, 2018: Psychiatric Genetics
(no author information available yet)
No abstract text is available yet for this article.
August 2018: Psychiatric Genetics
İsmail Akaltun, Tayfun Kara
No abstract text is available yet for this article.
August 2018: Psychiatric Genetics
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