American Journal of Medical Genetics Part B: Neuropsychiatric Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

SLC6A3 polymorphism and response to methylphenidate in children with ADHD: A systematic review and meta ‐analysis
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics,Volume 177, Issue 3, Page 287-300, April 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 24, 2017 Category: Genetics & Stem Cells Authors: Robabeh Soleimani , Zivar Salehi , Soheil Soltanipour , Tolou Hasandokht , Mir Mohammad Jalali Source Type: research

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics,Volume 177, Issue 3, Page 287-300, April 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 24, 2017 Category: Genetics & Stem Cells Source Type: research

Genome ‐wide gene‐environment interaction in depression: A systematic evaluation of candidate genes
Gene by environment (GxE) interaction studies have investigated the influence of a number of candidate genes and variants for major depressive disorder (MDD) on the association between childhood trauma and MDD. Most of these studies are hypothesis driven and investigate only a limited number of SNPs in relevant pathways using differing methodological approaches. Here (1) we identified 27 genes and 268 SNPs previously associated with MDD or with GxE interaction in MDD and (2) analyzed their impact on GxE in MDD using a common approach in 3944 subjects of European ancestry from the Psychiatric Genomics Consortium who had com...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 21, 2017 Category: Genetics & Stem Cells Authors: Sandra Van der Auwera, Wouter J. Peyrot, Yuri Milaneschi, Johannes Hertel, Bernhard Baune, Gerome Breen, Enda Byrne, Erin C. Dunn, Helen Fisher, Georg Homuth, Douglas Levinson, Cathryn Lewis, Natalie Mills, Niamh Mullins, Matthias Nauck, Giorgio Pistis, M Tags: RESEARCH ARTICLE Source Type: research

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease. To our knowledge, this report constitutes the first detailed description of PTEN‐related white matter changes in adult patients and in children with normal development and intelligence. We present a detailed assessment of the neuropsychological phenotype of our ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 20, 2017 Category: Genetics & Stem Cells Authors: Tugce B. Balci, Jorge Davila, Denice Lewis, Addo Boafo, Erick Sell, Julie Richer, Sarah M. Nikkel, Christine M. Armour, Eva Tomiak, Matthew A. Lines, Sarah L. Sawyer Tags: RESEARCH ARTICLE Source Type: research

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta ‐analysis
IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2‐like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional neurodevelopmental disorders. Here we genotyped 100 trio families with an index proband with autism spectrum disorder in Han Chinese population and found three cases with rare exonic IMMP2L deletions. We have conducted a comprehensive meta‐analysis to quantify the association of IMMP2L deletions with ASD using 5,568 cases and 10,279 controls. While the IMMP2L deletions carried non‐recurrent breakpoints, in contrast to pr...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 20, 2017 Category: Genetics & Stem Cells Authors: Yanqing Zhang, Yi Liu, Mehdi Zarrei, Winnie Tong, Rui Dong, Ying Wang, Haiyan Zhang, Xiaomeng Yang, Jeffrey R. MacDonald, Mohammed Uddin, Stephen W. Scherer, Zhongtao Gai Tags: RESEARCH ARTICLE Source Type: research

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification
Primary Familial Brain Calcification (PFBC) is a rare calcifying disorder of the brain with autosomal dominant inheritance, of unknown prevalence. Four causal genes have been identified so far: SLC20A2, PDGFB, PDGFRB, and XPR1, with pathogenic, probably pathogenic or missense variants of unknown significance found in 27.7% probands in the French PFBC series. Estimating PFBC prevalence from a clinical input is arduous due to a large diversity of symptoms and ages of onset and to incomplete clinical penetrance. Abnormal calcifications on CT scan can be used as a reliable diagnostic biomarker whatever the clinical status, but...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 20, 2017 Category: Genetics & Stem Cells Authors: Ga ël Nicolas, Camille Charbonnier, Dominique Campion, Joris A. Veltman Tags: RESEARCH ARTICLE Source Type: research

Genetic overlap between epilepsy and schizophrenia: Evidence from cross phenotype analysis in Hong Kong Chinese population
Epilepsy and schizophrenia are common and typical neurological or mental illness respectively, and sometimes they comorbid in the same patients, however the underlying genetic relationship between the two brain diseases is still not fully understood. To investigate the possible genetic contribution to their comorbidity, we performed polygenic risk score (PRS) analyses and genetic correlation estimation so as to identify the overall genetic overlap between the two diseases. The global schizophrenia PRS is strongly associated with schizophrenia phenotype in Hong Kong population (odds ratio = 1.7, p = 2.26E‐16), and...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 18, 2017 Category: Genetics & Stem Cells Authors: Hongsheng Gui, Miaoxin Li, Pak C. Sham, Larry Baum, , Patrick Kwan, Stacey S. Cherny Tags: RESEARCH ARTICLE Source Type: research

Association study of NDST3 gene for schizophrenia, bipolar disorder, major depressive disorder in the Han Chinese population
The NDST3 gene at 4q26 was a functional candidate gene for mental disorders. Recently, a novel genome‐wide significant risk locus at chromosome 4q26 was identified and the top single nucleotide polymorphism rs11098403 in the vicinity of NDST3 gene was reported to confer risk of schizophrenia in Caucasian. Nevertheless, association between NDST3 gene polymorphisms and schizophrenia, bipolar disorder, or major depressive disorders has not been well studied in the Han Chinese population. To further investigate whether NDST3 is a risk gene for these mental disorders, we genotyped and analyzed eight tag SNPs (rs11098403, rs10...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 16, 2017 Category: Genetics & Stem Cells Authors: Lin Wang, Jianhua Chen, Zhiqiang Li, Weiming Sun, Boyu Chen, Sining Li, Weidong Li, Dajiang Lu, Yonggang Wang, Yongyong Shi Tags: RESEARCH ARTICLE Source Type: research

Contribution of genes in the GABAergic pathway to bipolar disorder and its executive function deficit in the Chinese Han population
In this study, we investigated the association between bipolar I disorder (BDI) and between cognitive deficits therein and SNPs in GABAergic receptor genes. The sample comprised 477 patients with BDI and 438 healthy controls, with three neurocognitive tests being administered in 123 patients and 164 controls. For three SNPs, rs505474, rs1398175, and rs4868029 in the GABRA2, GABRA4, and GABRP genes, respectively, their allele frequencies were significantly different between patients and controls (Bonferroni‐adjusted p = values 3.84 × 10−4, 9.92 × 10−3, and 1.22 × 10−2, respectively). Four haplotyp...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 14, 2017 Category: Genetics & Stem Cells Authors: Hongyan Ren, Lijie Guan, Liansheng Zhao, Yin Lin, Yincheng Wang, Zhenxing Yang, Xuan Li, Xiaohong Ma, Xiongchao Cheng, Wenhao Deng, Katherine J. Aitchison, Liping Cao, Tao Li Tags: RESEARCH ARTICLE Source Type: research

Issue Information ‐ TOC
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 14, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 8, December 2017
COVER FIGURE The cover image, by Edmund C. Jenkins et al., is based on the Research Article Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome, DOI: 10.1002/ajmg.b.32575. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 14, 2017 Category: Genetics & Stem Cells Authors: Edmund C. Jenkins, Elaine J. Marchi, Milen T. Velinov, Lingling Ye, Sharon J. Krinsky ‐McHale, Warren B. Zigman, Nicole Schupf, Wayne P. Silverman Tags: Cover Image Source Type: research

Genetic and molecular risk factors within the newly identified primate ‐specific exon of the SAP97/DLG1 gene in the 3q29 schizophrenia‐associated locus
The synapse‐associated protein 97/discs, large homolog 1 of Drosophila (DLG1) gene encodes synaptic scaffold PDZ proteins interacting with ionotropic glutamate receptors including the N‐methyl‐D‐aspartate type glutamate receptor (NMDAR) that is presumed to be hypoactive in brains of patients with schizophrenia. The DLG1 gene resides in the chromosomal position 3q29, the microdeletion of which confers a 40‐fold increase in the risk for schizophrenia. In the present study, we performed genetic association analyses for DLG1 gene using a Japanese cohort with 1808 schizophrenia patients and 2170 controls. We detected ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 9, 2017 Category: Genetics & Stem Cells Authors: Akihito Uezato, Naoki Yamamoto, Daisuke Jitoku, Emiko Haramo, Eri Hiraaki, Yoshimi Iwayama, Tomoko Toyota, Masakazu Umino, Asami Umino, Yasuhide Iwata, Katsuaki Suzuki, Mitsuru Kikuchi, Tasuku Hashimoto, Nobuhisa Kanahara, Akeo Kurumaji, Takeo Yoshikawa, Tags: RESEARCH ARTICLE Source Type: research

Ancestry ‐specific and sex‐specific risk alleles identified in a genome‐wide gene‐by‐alcohol dependence interaction study of risky sexual behaviors
This study extends those findings by analyzing the ancestry‐ and sex‐specific AD‐stratified effects on RSB. We examined the concordance of findings for the AD‐stratified GWAS and the GW‐GxAD analysis of RSB, with concordance defined as genome‐wide significance in one analysis and at least nominal significance in the second analysis. A total of 2,173 African‐American (AA) and 1,751 European‐American (EA) subjects were investigated. Information regarding RSB (lifetime experiences of unprotected sex and multiple sexual partners) and DSM‐IV diagnosis of lifetime AD were derived from the Semi‐Structured Asse...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 9, 2017 Category: Genetics & Stem Cells Authors: Renato Polimanti, Hongyu Zhao, Lindsay A. Farrer, Henry R. Kranzler, Joel Gelernter Tags: RESEARCH ARTICLE Source Type: research

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences
This study documents the extent of HD testing of minors in the UK and the Netherlands and suggests that, in general, the recommendation is being followed. We provide some empirical evidence as to reasons why clinicians have departed from the recommendation. We do not advise changing the recommendation but suggest that testing of minors continues to be monitored. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 1, 2017 Category: Genetics & Stem Cells Authors: Oliver W. Quarrell, Angus J. Clarke, Cecilia Compton, Christine E.M. de Die ‐Smulders, Alan Fryer, Sian Jenkins, Nayana Lahiri, Rhona MacLeod, Zosia Miedzybrodzka, Patrick J. Morrison, Hannah Musgrave, Mary O'Driscoll, Mark Strong, Martine J. van Belzen Tags: RESEARCH ARTICLE Source Type: research