Issue Information ‐ TOC
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 15, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 5, July 2017
COVER FIGURE The cover image, by Jinchen Li et al., is based on the Research Article Vitamin D‐related genes are subjected to significant de novo mutation burdens in autism spectrum disorder, DOI: 10.1002/ajmg.b.32543. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 15, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype
Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several dozen genetic variants have been identified as risk factors through genome‐wide association studies including large population‐based samples. However, the bulk of the risk cannot be accounted for by the genes associated to date. Rare mutations have been historically seen as relevant only for some infrequent, Mendelian forms of psychosis. Recent findings, however, show that the subset of patients that present a mutation with major effect is larger than expected. We discuss some of the molecular findings of these studies. SZ is ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 14, 2017 Category: Genetics & Stem Cells Authors: M. Leonor Bustamante, Luisa Herrera, Pablo A. Gaspar, Rodrigo Nieto, Alejandro Maturana, Mar ía José Villar, Valeria Salinas, Hernán Silva Tags: REVIEW ARTICLE Source Type: research

Accuracy and utility of an epigenetic biomarker for smoking in populations with varying rates of false self ‐report
In conclusion, cg05575921 has significant potential as a clinical biomarker to detect smoking in populations with varying rates of accuracy in self‐report of smoking behavior. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 14, 2017 Category: Genetics & Stem Cells Authors: Allan M. Andersen, Robert A. Philibert, Fredrick X. Gibbons, Ronald L. Simons, Jeffrey Long Tags: RESEARCH ARTICLE Source Type: research

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS. Exome analysis was conducted for sporadic TS cases: nine trio families and one quartet family with...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 13, 2017 Category: Genetics & Stem Cells Authors: Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Sh Tags: RESEARCH ARTICLE Source Type: research

Association between COMT Val158Met and psychiatric disorders: A comprehensive meta ‐analysis
Catechol‐O‐methyltransferase (COMT) Val158Met is widely regarded as potentially important for understanding the genetic etiology of many different psychiatric disorders. The present study appears to be the first comprehensive meta‐analysis of COMT genetic association studies to cover all psychiatric disorders for which there were available data, published in any language, and with an emphasis on investigating disorder subtypes (defined clinically or by demographic or other variables). Studies were included if they reported one or more datasets (i.e., some studies examined more than one clinical group) in which there ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 13, 2017 Category: Genetics & Stem Cells Authors: Steven Taylor Tags: RESEARCH ARTICLE Source Type: research

Genome ‐wide association study of facial emotion recognition in children and association with polygenic risk for mental health disorders
Emotion recognition is disrupted in many mental health disorders, which may reflect shared genetic aetiology between this trait and these disorders. We explored genetic influences on emotion recognition and the relationship between these influences and mental health phenotypes. Eight‐year‐old participants (n = 4,097) from the Avon Longitudinal Study of Parents and Children (ALSPAC) completed the Diagnostic Analysis of Non‐Verbal Accuracy (DANVA) faces test. Genome‐wide genotype data was available from the Illumina HumanHap550 Quad microarray. Genome‐wide association studies were performed to assess associatio...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 13, 2017 Category: Genetics & Stem Cells Authors: Jonathan R.I. Coleman, Kathryn J. Lester, Robert Keers, Marcus R. Munaf ò, Gerome Breen, Thalia C. Eley Tags: RESEARCH ARTICLE Source Type: research

A comprehensive review of the genetic and biological evidence supports a role for MicroRNA ‐137 in the etiology of schizophrenia
Since it was first associated with schizophrenia (SCZ) in a 2011 genome‐wide association study (GWAS), there have been over 100 publications focused on MIR137, the gene encoding microRNA‐137. These studies have examined everything from its fundamental role in the development of mice, flies, and fish to the intriguing enrichment of its target gene network in SCZ. Indeed, much of the excitement surrounding MIR137 is due to the distinct possibility that it could regulate a gene network involved in SCZ etiology, a disease which we now recognize is highly polygenic. Here we comprehensively review, to the best of our ability...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Kensuke Sakamoto, James J. Crowley Tags: REVIEW ARTICLE Source Type: research

Serotonergic 5HTTLPR/rs25531 s ‐allele homozygosity associates with violent suicides in male citalopram users
In this study, we tested the hypothesis that the genetic variants associated with decreased citalopram efficiency, 5HTTLPR/rs25531, and increased impulsive behavior, MAOA‐uVNTR and HTR2B Q20*, are more frequent among citalopram users committing suicide than among the citalopram users in general. Also the effect of alcohol was evaluated. The study population comprised 349 suicide victims (184 males and 165 females). Based on the suicide method used, cases were divided into two groups; violent (88 males and 49 females) and non‐violent (96 males and 116 females). The control group (284; 159 males and 125 females) consiste...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Anna ‐Liina Rahikainen, Salla Majaharju, Jari Haukka, Jukka U. Palo, Antti Sajantila Tags: RESEARCH ARTICLE Source Type: research

The use of electronic health records for psychiatric phenotyping and genomics
The widespread adoption of electronic health record (EHRs) in healthcare systems has created a vast and continuously growing resource of clinical data and provides new opportunities for population‐based research. In particular, the linking of EHRs to biospecimens and genomic data in biobanks may help address what has become a rate‐limiting study for genetic research: the need for large sample sizes. The principal roadblock to capitalizing on these resources is the need to establish the validity of phenotypes extracted from the EHR. For psychiatric genetic research, this represents a particular challenge given that diag...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 30, 2017 Category: Genetics & Stem Cells Authors: Jordan W. Smoller Tags: REVIEW ARTICLE Source Type: research

The use of electronic health records for psychiatric phenotyping and genomics
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 30, 2017 Category: Genetics & Stem Cells Authors: Jordan W. Smoller Source Type: research

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Ahead of Print. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 30, 2017 Category: Genetics & Stem Cells Source Type: research

The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia
There is a long way from the initial discovery of a genome‐wide significant signal to mechanistic understanding of the association. Identification of the gene and causal polymorphism usually requires an extensive additional effort. The schizophrenia genome‐wide significant locus at 4q24 may be a rare exception to this pattern. As discussed in this review, the association at this locus is most probably driven by a functional missense variant at the metal cations transporter SLC39A8. The variant, rs13107325, is almost exclusive of European populations and is one of the most pleiotropic variants of the genome, being assoc...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 30, 2017 Category: Genetics & Stem Cells Authors: Javier Costas Tags: REVIEW ARTICLE Source Type: research