美国医学遗传学杂志 (AJMG) 的 B 部分神经精神遗传学为神经和精神疾病遗传机制的实验和临床研究提供了一个论坛。它是对精神疾病和其他神经系统疾病的遗传性质进行新的遗传学研究的资源，以分子、细胞或行为水平为特征。 《神经精神遗传学》每年出版八次。

The American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics serves as a forum for experimental and clinical research on the genetic mechanisms of neuropsychiatric disorders. It is a resource for new genetic studies on the hereditary nature of mental illnesses and other neurological conditions, characterized by molecular, cellular, or behavioral levels. The journal is published eight times a year.

《American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics》是美国医学遗传学杂志的B部分，专注于神经和精神疾病的遗传机制。该期刊为实验和临床研究提供了一个重要的论坛，旨在探讨精神疾病及其他神经系统疾病的遗传特性，涵盖分子、细胞和行为层面的新遗传学研究。该期刊每年出版八期。

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

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. Almost all of the studies which underwent full review involved patients with schizophrenia. Ten biomarkers were identified. Six of them were reported in two or more independent metabolomics studies: N‐acetyl aspartate , lactate , tryptophan , kynurenine , glutamate , and creatine . Four additional metabolites were encountered in a single metabolomics study but had significant evidence (two supporting articles or more) for a link to psychosis based on PubMed: linoleic acid, D‐serine , glutathione , and 3‐hydroxybutyrate . The pathways affected are discussed as they may be relevant to the pathophysiology of psychosis, and specifically of schizophrenia, as well as, constitute new drug targets for treatment of related conditions. Based on the biomarkers identified, early diagnosis of schizophrenia and/or monitoring may be possible.

Christopher Li

Aviva Wang

Chloe Wang

Janani Ramamurthy

Edlyn Zhang

Elena Guadagno

Yannis Trakadis

American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Metabolomics in patients with psychosis: A systematic review

精神病患者中的代谢组学：一项系统综述

Abstract Compelling evidence suggests that there is a considerable overlap in structural and functional alternation in the brain between different neuropsychiatric disorders. However, whether these overlaps are specific for schizophrenia has yet to be investigated. A total of 36 patients with paranoid schizophrenia, 43 patients with major depressive disorder (MDD), and 44 healthy controls were recruited to undergo resting‐state functional magnetic resonance imaging (rs‐fMRI) for analysis of regional homogeneity (ReHo). Twelve regions of interest (ROIs) in the frontal and temporal lobes were generated and one‐way ANOVA was performed to test the ReHo differences within these ROIs between the above three groups. The ReHo values within ROIs were extracted to investigate whether a left‐right asymmetry existed in a mental disorder. One‐way ANOVA showed significant differences in ReHo in the right superior frontal gyrus and left superior temporal gyrus; post hoc analysis revealed that schizophrenic patients had lower ReHo in the left superior temporal gyrus than either control subjects or patients with MDD. Increased ReHo was observed in the right superior frontal gyrus in schizophrenic patients compared with control subjects, and a left‐less‐than‐right asymmetry was also found in this region in schizophrenic patients. The above alterations in ReHo were not affected by age and genders. Our study suggests that the altered ReHo in the superior frontal and temporal gyrus may be specific for schizophrenia rather than MDD. A left‐less‐than‐right asymmetry activation pattern may exist in the resting‐state superior frontal gyrus in schizophrenia. This finding would be helpful for better understanding the pathological mechanisms of schizophrenia. © 2012 Wiley Periodicals, Inc.

Jun Chen

Yong Xu

Kerang Zhang

Zhifen Liu

Cheng Xu

Yan Shen

Qi Xu

Comparative study of regional homogeneity in schizophrenia and major depressive disorder

精神分裂症和重度抑郁症区域同质性的比较研究

Phenylketonuria (PKU), an inborn error of phenylalanine metabolism, has been shown to be a risk factor for tardive dyskinesia (TD). In male psychiatric patients there was a significant relationship between TD and measures of plasma phenylalanine following ingestion of a standardized phenylalanine dose that was indicative of higher brain availability of phenylalanine in patients with TD. In addition, a medical food formulation consisting of branched chain amino acids, which compete with phenylalanine for transport across the blood-brain barrier, has been demonstrated to be an efficacious treatment for TD. Cumulatively these findings suggested that TD was related to phenylalanine metabolism and thus that sequence variants in the gene for phenylalanine hydroxylase (PAH), the rate-limiting enzyme in the catabolism of phenylalanine, could be associated with TD susceptibility. Genetic screening of PAH in a group of 123 psychiatric patients revealed ten sequence polymorphisms and two mutations, but none appeared to be a significant risk factor for TD.

Mary Ann Richardson

Helen M. Chao

Laura L. Read

James D. Clelland

Raymond F. Suckow

Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia

苯丙氨酸羟化酶基因与迟发性运动障碍的研究

Abstract Recessive mutations in the phenylalanine hydroxylase (PAH) gene predispose to phenylketonuria (PKU) in conjunction with dietary exposure to phenylalanine. Previous studies have suggested PAH variations could confer risk for schizophrenia, but comprehensive follow‐up has not been reported. We analyzed 15 common PAH “tag” SNPs and three exonic variations that are rare in Caucasians but common in African‐Americans among four independent samples (total n = 5,414). The samples included two US Caucasian cohorts (260 trios, 230 independent cases, 474 controls), Bulgarian families (659 trios), and an African‐American sample (464 families, 401 controls). Analyses of both US Caucasian samples revealed associations with five SNPs; most notably the common allele (G) of rs1522305 from case–control analyses (z = 2.99, P = 0.006). This SNP was independently replicated in the Bulgarian cohort (z = 2.39, P = 0.015). A non‐significant trend was also observed among African‐American families (z = 1.39, P = 0.165), and combined analyses of all four samples were significant (rs1522305: χ 2 = 23.28, 8 d.f., P = 0.003). Results for rs1522305 met our a priori criteria for statistical significance, namely an association that was robust to multiple testing correction in one sample, a replicated risk allele in multiple samples, and combined analyses that were nominally significant. Case–control results in African‐Americans detected an association with L321L ( P = 0.047, OR = 1.46). Our analyses suggest several associations at PAH , with consistent evidence for rs1522305. Further analyses, including additional variations and environmental influences such as phenylalanine exposure are warranted. © 2008 Wiley‐Liss, Inc.

Michael E. Talkowski

Lora McClain

Trina Allen

L. DiAnne Bradford

Monica Calkins

Neil Edwards

Lyudmila Georgieva

Rodney Go

Ruben Gur

Raquel Gur

George Kirov

Kodavali Chowdari

Joseph Kwentus

Paul Lyons

Hader Mansour

Joseph McEvoy

Michael C. O'Donovan

Judith O'Jile

Michael J. Owen

Alberto Santos

Robert Savage

Draga Toncheva

Gerard Vockley

Joel Wood

Bernie Devlin

Vishwajit L. Nimgaonkar

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

苯丙氨酸羟化酶变异与精神分裂症关联的趋同模式：四个独立样本的研究

ABSTRACT The comprehensive genome‐wide nature of transcriptome studies in Alzheimer's disease (AD) should provide a reliable description of disease molecular states. However, the genes and molecular systems nominated by transcriptomic studies do not always overlap. Even when results do align, it is not clear if those observations represent true consensus across many studies. A couple of sources of variation have been proposed to explain this variability, including tissue‐of‐origin and cohort type, but its basis remains uncertain. To address this variability and extract reliable results, we utilized all publicly available blood or brain transcriptomic datasets of AD, comprised of 24 brain studies with 4007 samples from six different brain regions, and eight blood studies with 1566 samples. We identified a consensus of AD‐associated genes across brain regions and AD‐associated gene‐sets across blood and brain, generalizable machine learning and linear scoring classifiers, and significant contributors to biological diversity in AD datasets. While AD‐associated genes did not significantly overlap between blood and brain, our findings highlighted 15 dysregulated processes shared across blood and brain in AD. The top five most significantly dysregulated processes were DNA replication, metabolism of proteins, protein localization, cell cycle, and programmed cell death. Conversely, addressing the discord across studies, we found that large‐scale gene co‐regulation patterns can account for a significant fraction of variability in AD datasets. Overall, this study ranked and characterized a compilation of genes and molecular systems consistently identified across a large assembly of AD transcriptome studies in blood and brain, providing potential candidate biomarkers and therapeutic targets.

Jiahui Hou

Jonathan L. Hess

Chunling Zhang

Jeroen G. J. van Rooij

Gentry C. Hearn

Chun Chieh Fan

Stephen V. Faraone

Christine Fennema‐Notestine

Shu‐Ju Lin

Valentina Escott‐Price

Sudha Seshadri

Peter Holmans

Ming T. Tsuang

William S. Kremen

Chris Gaiteri

Stephen J. Glatt

Meta‐Analysis of Transcriptomic Studies of Blood and Six Brain Regions Identifies a Consensus of 15 Cross‐Tissue Mechanisms in Alzheimer's Disease and Suggests an Origin of Cross‐Study Heterogeneity

阿尔茨海默病血液及六个脑区转录组研究的Meta分析确定了15个跨组织机制的共识，并提示了跨研究异质性的来源

Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta-analysis of genome-wide association studies on AN identified independent risk-conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated. To investigate AN, we performed transcriptome profiling in peripheral blood mononuclear cells from 15 AN patients and 15 healthy controls. We validated our mean results in a mouse model of chronic food restriction, which mimics several aspects of AN. In this exploratory study, we identified 673 significantly differentially expressed genes in AN. Among these genes, we identified seven genes previously found to be dysregulated in IPSC-derived neurons from AN individuals and the Vanin-1 (Vnn1) gene, which appears to play an important role in the regulation of several metabolic pathways. We confirmed underexpression of Vnn1, particularly in the liver, in a mouse model of chronic food restriction. These results indicate that quantitative food restriction affects Vnn1 expression, suggesting that this gene may contribute to the anorexic phenotype in the chronic food restriction mouse model as well as in patients with AN. We believe that this report highlights promising candidate genes and gene pathways for AN, and although we did not obtain a significant result in the replication cohort, it identifies Vnn1 as a potential biomarker that may be used as a molecular target to predict and/or to understand AN.

Camille Verebi

Nicolas Lebrun

Justine Vily Petit

Odile Viltart

Philibert Duriez

Benjamin Saint‐Pierre

Philip Gorwood

Nicolas Ramoz

Thierry Bienvenu

Potential New Expression Biomarkers for Anorexia Nervosa

神经性厌食症潜在的新表达生物标志物

ABSTRACT Public stigma and prejudice toward people with psychiatric conditions is highly prevalent and damaging. Explanations for the origins of mental illness can influence attitudes toward people with these conditions. To date, studies exploring the effects of explanations for the origins of mental illness have focused on genetic or environmental explanations, and the impact of evidence‐based multifactorial explanations for psychiatric illness on public attitudes remains unknown. Participants were recruited through Amazon Mechanical Turk to watch a 4‐min video about the “mental illness jar model”—an evidence‐based analogy that explains the complex interactions between genes and environment in the development of mental illness. Participants provided demographic information and completed questions regarding knowledge about the causes of mental illness, and the Prejudice towards People with Mental Illness (PPMI) scale both before and after watching the video. A total of 106 eligible participants completed the study. Watching the video had no significant effect on participants' knowledge about the causes of mental illness ( p = 0.06), but there was a significant decrease in prejudicial attitudes toward mental illness ( p = 0.0003), the effect size was small (−0.15). The use of this brief video (available at cogastudy.org ) is a promising tool to decrease prejudicial attitudes toward mental illness that warrants further study.

Hailey A. Segall

Danielle M. Dick

Amber M. Aeilts

Abigail B. Shoben

Dawn C. Allain

Jehannine C. Austin

A Pilot Study to Assess the Impact of a Multifactorial Explanation for Mental Illness on Prejudicial Attitudes Towards People With Mental Illness

一项评估多因素解释对精神疾病患者偏见态度影响的初步研究

Lien‐Chung Wei

Hsien‐Jane Chiu

Am J Med Genet B Neuropsychiatr Genet

Reconsidering the Genetic Overlap Between Cognition and Bipolar Disorder: A Commentary on D'Amico et al.'s Family Study

重新考虑认知与双相情感障碍之间的遗传重叠：对D'Amico等人家族研究的评论

ABSTRACT Duplications of the Xq28,distal locus have been described in male and female patients with schizophrenia (SCZ) or intellectual disability. The Xq28,distal locus spans eight protein‐coding genes ( F8 , CMC4 , MTCP1 , BRCC3 , VBP1 , FUNDC2 , CLIC2 , and RAB39B ) and is flanked by recurrent genomic breakpoints. Thus, the issue of which gene/s at this locus is/are relevant in terms of SCZ pathogenesis remains unclear. The aim of this study was to investigate the contribution of rare and potentially functionally relevant sequence variants within the Xq28,distal locus to SCZ risk using the single‐molecule molecular inversion probes (smMIP) method. Targeted sequencing was performed in a cohort of 1935 patients with SCZ and 1905 controls of European ancestry. The consecutive statistical analysis addressed two main areas. On the level of the individual variants, allele counts in the patient and control cohort were systematically compared with a Fisher's exact test: (i) for the entire present study cohort; (ii) for patients and controls separated by sex; and (iii) in combination with data published by the Schizophrenia Exome Meta‐Analysis (SCHEMA) consortium. On the gene‐wise level, a burden analysis was performed using the X‐chromosomal model of the Optimal Unified Sequence Kernel Association Test (SKAT‐O), with adjustment for possible sex‐specific effects. Targeted sequencing identified a total of 13 rare and potentially functional variants in four patients and 11 controls. However, neither at the level of individual rare and potentially functional variants nor at the level of the eight protein‐coding genes at the Xq28,distal locus was a statistically significant enrichment in patients compared to controls observed. Although inconclusive, the present findings represent a step toward improved understanding of the contribution of X‐chromosomal risk factors in neuropsychiatric disorder development, which is an underrepresented aspect of genetic studies in this field.

I. Claus

S. Sivalingam

A. C. Koller

A. Weiß

C. M. Mathey

L. Sindermann

D. Klein

L. Henschel

K. U. Ludwig

P. Hoffmann

A. Heimbach

S. Heilmann‐Heimbach

H. Vedder

J. Kammerer‐Ciernioch

T. Stürmer

F. Streit

A. Maaser‐Hecker

I. Nenadić

B. T. Baune

A. M. Hartmann

B. Konte

I. Giegling

U. Heilbronner

M. Wagner

A. Philipsen

B. Schmidt

D. Rujescu

A. Buness

T. G. Schulze

M. Rietschel

A. J. Forstner

M. M. Nöthen

F. Degenhardt

Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk‐Locus Xq28,distal

精神分裂症风险位点Xq28远端罕见且可能具有功能相关序列变异的贡献

Abbreviation	Am. J. Med. Genet. B. Neuropsychiatr. Genet.
Journal Impact	1.45
Quartiles(Global)	PSYCHIATRY(Q3)

ISSN	1552-4841, 1552-485X
h-index	137

Publication Information	Publisher: Wiley-Liss Inc.，Publishing cycle: Bimonthly，Journal Type: journal，Open Access Journals: No
Basic data	Year of publication: 1995，Proportion of original research papers: 71.43%，Self Citation Rate:12.50%， Gold OA Rate: 40.66%
Average review cycle	网友分享经验：偏慢,4-8周
Average recruitment ratio	网友分享经验：一般

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

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Metabolomics in patients with psychosis: A systematic review

Comparative study of regional homogeneity in schizophrenia and major depressive disorder

Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

Meta‐Analysis of Transcriptomic Studies of Blood and Six Brain Regions Identifies a Consensus of 15 Cross‐Tissue Mechanisms in Alzheimer's Disease and Suggests an Origin of Cross‐Study Heterogeneity

Meta‐Analysis of Transcriptomic Studies of Blood and Six Brain Regions Identifies a Consensus of 15 Cross‐Tissue Mechanisms in Alzheimer's Disease and Suggests an Origin of Cross‐Study Heterogeneity

Potential New Expression Biomarkers for Anorexia Nervosa

A Pilot Study to Assess the Impact of a Multifactorial Explanation for Mental Illness on Prejudicial Attitudes Towards People With Mental Illness

Reconsidering the Genetic Overlap Between Cognition and Bipolar Disorder: A Commentary on D'Amico et al.'s Family Study

Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk‐Locus Xq28,distal