Genetic risk variants for social anxiety
Social anxiety is a neurobehavioral trait characterized by fear and reticence in social situations. Twin studies have shown that social anxiety has a heritable basis, shared with neuroticism and extraversion, but genetic studies have yet to demonstrate robust risk variants. We conducted genomewide association analysis (GWAS) of subjects within the Army Study To Assess Risk and Resilience in Servicemembers (Army STARRS) to (i) determine SNP‐based heritability of social anxiety; (ii) discern genetic risk loci for social anxiety; and (iii) determine shared genetic risk with neuroticism and extraversion. GWAS were conducted ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - February 21, 2017 Category: Genetics & Stem Cells Authors: Murray B. Stein, Chia ‐Yen Chen, Sonia Jain, Kevin P. Jensen, Feng He, Steven G. Heeringa, Ronald C. Kessler, Adam Maihofer, Matthew K. Nock, Stephan Ripke, Xiaoying Sun, Michael L. Thomas, Robert J. Ursano, Jordan W. Smoller, Joel Gelernter, Tags: Research Article Source Type: research

Anxiety genetics: Dispatches from the frontier
Anxiety disorders are the most common class of psychiatric disorders and incur an enormous burden in terms of economic costs, disability and personal suffering. Despite their public health importance and documented heritability, genetic research aimed at identifying the genetic contributions to these disorders has had limited success, particularly in comparison to recent advances in the genetics of other major psychiatric disorders. The major factor contributing to this lagging progress has been a dearth of well‐powered genomic studies. As a result, the genetic basis of anxiety disorders remains a largely uncharted front...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - February 21, 2017 Category: Genetics & Stem Cells Authors: Jordan W. Smoller 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 - February 21, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 2, March 2017
COVER FIGURE Copyright: http://www.123rf.com/profile_kjpargeter. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - February 21, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

miR ‐149 and miR‐29c as candidates for bipolar disorder biomarkers
In this study, we show that EVs extracted from the anterior cingulate cortex (BA24), a crucial area for modulating emotional expression and affect, have increased levels of miR‐149 in BD patients compared to controls. Because miR‐149 has been shown to inhibit glial proliferation, increased miR‐149 expression in BA24‐derived EVs is consistent with the previously reported reduced glial cell numbers in BA24 of patients diagnosed with either familial BD or familial major depressive disorder. qPCR analysis of laser‐microdissected neuronal and glial cells from BA24 cortical samples of BD patients verified that the glia...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - December 31, 2016 Category: Genetics & Stem Cells Authors: Jason L. Choi, Patricia F. Kao, Elena Itriago, Yougen Zhan, James A. Kozubek, Andrew G. Hoss, Meredith G. Banigan, Charles R. Vanderburg, Amir H. Rezvani, Jeanne C. Latourelle, Howard Cabral, Ivana Delalle Tags: Research Article Source Type: research

Associations between neurodevelopmental genes, neuroanatomy, and ultra high risk symptoms of psychosis in 22q11.2 deletion syndrome
22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer. Participants were genotyped for 10 SNPs in the COMT, DGCR8, GNB1L, PIK4CA, ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - December 31, 2016 Category: Genetics & Stem Cells Authors: Carlie A. Thompson, Jason Karelis, Frank A. Middleton, Karen Gentile, Ioana L. Coman, Petya D. Radoeva, Rashi Mehta, Wanda P. Fremont, Kevin M. Antshel, Stephen V. Faraone, Wendy R. Kates Tags: Research Article Source Type: research

APOE gene and neuropsychiatric disorders and endophenotypes: A comprehensive review
The Apolipoprotein E (APOE) gene is one of the main candidates in neuropsychiatric genetics, with hundreds of studies carried out in order to explore the possible role of polymorphisms in the APOE gene in a large number of neurological diseases, psychiatric disorders, and related endophenotypes. In the current article, we provide a comprehensive review of the structural and functional aspects of the APOE gene and its relationship with brain disorders. Evidence from genome‐wide association studies and meta‐analyses shows that the APOE gene has been significantly associated with several neurodegenerative disorders. Cellu...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - December 12, 2016 Category: Genetics & Stem Cells Authors: Diego A. Forero, Sandra L ópez‐León, Yeimy González‐Giraldo, Daniel R. Dries, Angela J. Pereira‐Morales, Karen M. Jiménez, Juan E. Franco‐Restrepo Tags: Review Article Source Type: research

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature
We present the UCSF gPrD cohort, including 129 symptomatic patients referred to and/or seen at UCSF between 2001 and 2016, and compare the clinical features of the gPrDs from 22 mutations identified in our cohort with data from the literature, as well as perform a literature review on most other mutations not represented in our cohort. E200K is the most common mutation worldwide, is associated with gJCD, and was the most common in the UCSF cohort. Among the GSS‐associated mutations, P102L is the most commonly reported and was also the most common at UCSF. We also had several octapeptide repeat insertions (OPRI), a rare n...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - December 11, 2016 Category: Genetics & Stem Cells Authors: Leonel T. Takada, Mee ‐Ohk Kim, Ross W. Cleveland, Katherine Wong, Sven A. Forner, Ignacio Illán Gala, Jamie C. Fong, Michael D. Geschwind Tags: Review Article Source Type: research

Genomic variants, genes, and pathways of Alzheimer's disease: An overview
Alzheimer's disease (AD) (MIM: 104300) is a highly heritable disease with great complexity in its genetic contributors, and represents the most common form of dementia. With the gradual aging of the world's population, leading to increased prevalence of AD, and the substantial cost of care for those afflicted, identifying the genetic causes of disease represents a critical effort in identifying therapeutic targets. Here we provide a comprehensive review of genomic studies of AD, from the earliest linkage studies identifying monogenic contributors to early‐onset forms of AD to the genome‐wide and rare variant associatio...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - December 11, 2016 Category: Genetics & Stem Cells Authors: Adam C. Naj, Gerard D. Schellenberg, Tags: Review 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 - December 11, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 1, January 2017
Neuropathological findings in a frontotemporal dementia patient with a MAPT mutation and long duration of disease, DOI: 10.1002/ajmg.b.32443. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - December 11, 2016 Category: Genetics & Stem Cells Authors: Kimiko Domoto ‐Reilly, Marie Y. Davis, C. Dirk Keene, Thomas D. Bird Tags: Cover Image Source Type: research

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 30, 2016 Category: Genetics & Stem Cells Authors: Ignacio F. Mata, Marie Y. Davis, Alexis N. Lopez, Michael O. Dorschner, Erica Martinez, Dora Yearout, Brenna A. Cholerton, Shu ‐Ching Hu, Karen L. Edwards, Thomas D. Bird, Cyrus P. Zabetian Tags: Erratum Source Type: research

Identification of extreme motor phenotypes in Huntington's disease
The manifestation of motor signs in Huntington's disease (HD) has a well‐known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats ≥40, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phe...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 21, 2016 Category: Genetics & Stem Cells Authors: Ulrike Braisch, Birgit Hay, Rainer Muche, Dietrich Rothenbacher, G. Bernhard Landwehrmeyer, Jeffrey D. Long, Michael Orth, Tags: Research Article Source Type: research

Genetic and environmental contributions to the inverse association between specific autistic traits and experience seeking in adults
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 14, 2016 Category: Genetics & Stem Cells Authors: Ángel Romero‐Martínez, Luís Moya‐Albiol, Anna A.E. Vinkhuyzen, Tinca J.C. Polderman Tags: Erratum 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, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research