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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/28449271/delusional-and-psychotic-disorders-in-juvenile-myotonic-dystrophy-type-1
#1
Delphine Jacobs, Diane Willekens, Christine de Die-Smulders, Jean-Pierre Frijns, Jean Steyaert
We investigated the clinically derived hypothesis of a relatively high incidence of delusional and psychotic disorders in adolescents with juvenile Myotonic Dystrophy type-1 (DM1). Twenty-seven subjects of age 16-25 with juvenile DM1 and their parents were invited to have a clinical psychiatric interview, and to complete an ASEBA behavior checklist (YSR, ASR, CBCL, and ABCL). We diagnosed a Delusional Disorder in 19% of our patients and a Psychotic Disorder not otherwise specified in another 19%. These two groups of patients had a significantly worse level of clinically defined general functioning...
April 27, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28440896/genome-wide-meta-analysis-identifies-a-novel-susceptibility-signal-at-cacna2d3-for-nicotine-dependence
#2
Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R Gizer, Cindy L Ehlers, Kirk C Wilhelmsen
Nicotine dependence (ND) has a reported heritability of 40-70%. Low-coverage whole-genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome-wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed-effect meta-analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta-analysis of African participants identified a significant and novel susceptibility signal (rs56247223; p = 4...
April 25, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28436623/mthfr-methylation-moderates-the-impact-of-smoking-on-dna-methylation-at-ahrr-for-african-american-young-adults
#3
Steven R H Beach, Man Kit Lei, Mei Ling Ong, Gene H Brody, Meeshanthini V Dogan, Robert A Philibert
Smoking has been shown to have a large, reliable, and rapid effect on demethylation of AHRR, particularly at cg05575921, suggesting that methylation may be used as an index of cigarette consumption. Because the availability of methyl donors may also influence the degree of demethylation in response to smoking, factors that affect the activity of methylene tetrahydrofolate reductase (MTHFR), a key regulator of methyl group availability, may be of interest. In the current investigation, we examined the extent to which individual differences in methylation of MTHFR moderated the association between smoking and demethylation at cg05575921 as well as at other loci on AHRR associated with a main effect of smoking...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28436202/a-common-genetic-variant-in-foxp2-is-associated-with-language-based-learning-dis-abilities-evidence-from-two-italian-independent-samples
#4
Alessandra Mozzi, Valentina Riva, Diego Forni, Manuela Sironi, Cecilia Marino, Massimo Molteni, Stefania Riva, Franca R Guerini, Mario Clerici, Rachele Cagliani, Sara Mascheretti
Language-based Learning Disabilities (LLDs) encompass a group of complex, comorbid, and developmentally associated deficits in communication. Language impairment and developmental dyslexia (DD) represent the most recognized forms of LLDs. Substantial genetic correlations exist between language and reading (dis)abilities. Common variants in the FOXP2 gene were consistently associated with language- and reading-related neuropsychological and neuroanatomical phenotypes. We tested the effect of a FOXP2 common variant, that is, rs6980093 (A/G), on quantitative measures of language and reading in two independent Italian samples: a population-based cohort of 699 subjects (3-11 years old) and a sample of 572 children with DD (6-18 years old)...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28436115/genetic-and-environmental-contributions-to-the-association-between-adhd-and-affective-problems-in-early-childhood-a-swedish-population-based-twin-study
#5
Mina Rydell, Mark J Taylor, Henrik Larsson
Few twin studies have explored the relative contribution of genetic and environmental factors to the association between attention deficit hyperactivity disorder (ADHD) and affective problems, and no study has focused on preschool children. We used the classical twin design to explore the genetic and environmental overlap between ADHD symptoms and affective problems in preschool children, based on 879 five-year-old twin pairs born in Sweden 2004-2005. Questionnaire-based parent-ratings were used to measure ADHD symptoms and affective problems...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28407358/vitamin-d-related-genes-are-subjected-to-significant-de-novo-mutation-burdens-in-autism-spectrum-disorder
#6
Jinchen Li, Lin Wang, Ping Yu, Leisheng Shi, Kun Zhang, Zhong Sheng Sun, Kun Xia
Vitamin D deficiency is a putative environmental risk factor for autism spectrum disorder (ASD). Besides, de novo mutations (DNMs) play essential roles in ASD. However, it remains unclear whether vitamin D-related genes (VDRGs) carry a strong DNM burden. For the 943 reported VDRGs, we analyzed publicly-available DNMs from 4,327 ASD probands and 3,191 controls. We identified 126 and 44 loss-of-function or deleterious missense mutations in the probands and the controls, respectively, representing a significantly higher DNM burden (p = 1...
April 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28394502/the-genome-wide-expression-effects-of-escitalopram-and-its-relationship-to-neurogenesis-hippocampal-volume-and-antidepressant-response
#7
Timothy R Powell, Tytus Murphy, Simone de Jong, Sang Hyuck Lee, Katherine E Tansey, Karen Hodgson, Rudolf Uher, Jack Price, Sandrine Thuret, Gerome Breen
Antidepressant-induced hippocampal neurogenesis (AHN) is hypothesized to contribute to increases in hippocampal volume among major depressive disorder patients after long-term treatment. Furthermore, rodent studies suggest AHN may be the cellular mechanism mediating the therapeutic benefits of antidepressants. Here, we perform the first investigation of genome-wide expression changes associated with AHN in human cells. We identify gene expression networks significantly activated during AHN, and we perform gene set analyses to probe the molecular relationship between AHN, hippocampal volume, and antidepressant response...
April 10, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28394482/familial-cases-and-male-cases-with-mecp2-mutations
#8
Qingping Zhang, Ying Zhao, Xinhua Bao, Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu
This is the first report of Chinese familial cases with Rett syndrome (RTT) or X-linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2 mutations in six Chinese families, including three females and five males with RTT or XLMR. All shared identical MECP2 mutations with their mothers. The three females fulfilled the diagnostic criteria for RTT, while the five males were XLMR. A random X-chromosome inactive (XCI) pattern was seen in all the three female patients and two mothers while a skewed XCI in the rest four mothers...
April 10, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28371232/investigation-of-shank3-in-schizophrenia
#9
Ana de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, Maren Lang, Birgit Weiss, Ralph Roeth, Ina Giegling, Stefanie Heilmann-Heimbach, Andrea Hofmann, Dan Rujescu, Christine Fischer, Marcella Rietschel, Markus M Nöthen, Gudrun A Rappold, Simone Berkel
The postsynaptic scaffolding protein SHANK3 is essential for the normal function of glutamatergic synapses in the brain. Emerging evidence suggests that impaired plasticity of glutamatergic synapses contributes to the pathology of schizophrenia (SCZ). To investigate whether variants in the SHANK3 gene contribute to the etiology of SCZ, we sequenced SHANK3 in 500 affected individuals (cohort C1). In total, we identified 48 variants and compared them to European controls from the 1000 Genomes Project and the Exome Variant Server...
March 28, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28371072/can-lncrnas-be-indicators-for-the-diagnosis-of-early-onset-or-acute-schizophrenia-and-distinguish-major-depressive-disorder-and-generalized-anxiety-disorder-a-cross-validation-analysis
#10
Xuelian Cui, Wei Niu, Lingming Kong, Mingjun He, Kunhong Jiang, Shengdong Chen, Aifang Zhong, Wanshuai Li, Jim Lu, Liyi Zhang
Depression and anxiety are apparent symptoms in the early onset or acute phase of schizophrenia (SZ), which complicate timely diagnosis and treatment. It is imperative to seek an indicator to distinguish schizophrenia from depressive and anxiety disorders. Using lncRNA microarray profiling and RT-PCR, three up-regulated lncRNAs in SZ, six down-regulated lncRNAs in major depressive disorder (MDD), and three up-regulated lncRNAs in generalized anxiety disorder (GAD) had been identified as potential biomarkers...
March 28, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28349640/developmental-trajectories-for-young-children-with-16p11-2-copy-number-variation
#11
Raphael Bernier, Caitlin M Hudac, Qixuan Chen, Chubing Zeng, Arianne Stevens Wallace, Jennifer Gerdts, Rachel Earl, Jessica Peterson, Anne Wolken, Alana Peters, Ellen Hanson, Robin P Goin-Kochel, Stephen Kanne, LeeAnne Green Snyder, Wendy K Chung
Copy number variation at 16p11.2 is associated with diverse phenotypes but little is known about the early developmental trajectories and emergence of the phenotype. This longitudinal study followed 56 children with the 16p11.2 BP4-BP5 deletion or duplication between the ages of 6 months and 8 years with diagnostic characterization and dimensional assessment across cognitive, adaptive, and behavioral domains. Linear mixed modeling revealed distinct developmental trajectories with deletions showing VIQ gains but declines in motor and social abilities while duplications showed VIQ gains and steady development across other domains...
March 27, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28349588/adh1b-from-alcoholism-natural-selection-and-cancer-to-the-human-phenome
#12
REVIEW
Renato Polimanti, Joel Gelernter
The ADH1B (Alcohol Dehydrogenase 1B (class I), Beta Polypeptide) gene and its best-known functional alleles, Arg48His (rs1229984, ADH1B*2) and Arg370Cys (rs2066702, ADH1B*3), have been investigated in relation to many phenotypic traits; most frequently including alcohol metabolism and alcohol drinking behaviors, but also human evolution, liver function, cancer, and, recently, the comprehensive human phenome. To understand ADH1B functions and consequences, we provide here a bioinformatic analysis of its gene regulation and molecular functions, literature review of studies focused on this gene, and a discussion regarding future research perspectives...
March 27, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#13
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28304131/copy-number-variation-in-19-italian-multiplex-families-with-autism-spectrum-disorder-importance-of-synaptic-and-neurite-elongation-genes
#14
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico
Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K)...
March 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28512750/genetic-risk-variants-for-social-anxiety
#15
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
No abstract text is available yet for this article.
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28512749/anxiety-genetics-dispatches-from-the-frontier
#16
Jordan W Smoller
No abstract text is available yet for this article.
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28512748/genetic-influences-on-adhd-symptom-dimensions-examination-of-a-priori-candidates-gene-based-tests-genome-wide-variation-and-snp-heritability
#17
L Cinnamon Bidwell, Joshua C Gray, Jessica Weafer, Abraham A Palmer, Harriet de Wit, James MacKillop
Although the heritability of ADHD is estimated to be high, identifying specific genetic markers remains challenging. Most studies to date have examined the genetic basis of ADHD by employing dichotomous diagnostic phenotypes, but, as ADHD symptoms tend to be phenotypically dimensional, an alternative and potentially informative approach is to examine continuous indices of inattention and hyperactivity-impulsivity symptoms. The current study aimed to identify genetic effects on dimensionally-focused adult ADHD-related phenotypes in 990 individuals of European ancestry with intentionally low levels of substance misuse to avoid confounding...
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28512747/visuoperceptual-processing-in-children-with-neurofibromatosis-type-1-true-deficit-or-artefact
#18
Lien Van Eylen, Ellen Plasschaert, Johan Wagemans, Bart Boets, Eric Legius, Jean Steyaert, Ilse Noens
Impairments in visuoperceptual processing have long been considered a hallmark deficit of individuals with Neurofibromatosis type 1 (NF1). However, it is unclear which specific visuoperceptual subprocesses are impaired and whether impairments on these tasks really result from visuoperceptual impairments or rather from confounding factors like Executive Functioning (EF) impairments, lower intelligence (IQ) and/or co-occurring symptoms of Autism Spectrum Disorder (ASD). To answer these questions, we administered four visuoperceptual tasks and two control tasks in 39 children with NF1, 52 typically developing children and 52 children with ASD (8-18 years), all matched for age and gender...
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28447399/genome-wide-association-study-of-hiv-associated-neurocognitive-disorder-hand-a-charter-group-study
#19
Peilin Jia, Zhongming Zhao, Todd Hulgan, William S Bush, David C Samuels, Cinnamon S Bloss, Robert K Heaton, Ronald J Ellis, Nicholas Schork, Christina M Marra, Ann C Collier, David B Clifford, Benjamin B Gelman, Ned Sacktor, Susan Morgello, David M Simpson, J Allen McCutchan, Jill S Barnholtz-Sloan, Donald R Franklin, Debralee Rosario, Scott L Letendre, Igor Grant, Asha R Kallianpur
HIV-associated neurocognitive disorder (HAND) often complicates HIV infection despite combination antiretroviral therapy (ART) and may be influenced by host genomics. We performed a genome-wide association study (GWAS) of HAND in 1,050 CNS HIV Anti-Retroviral Therapy Effects Research (CHARTER) Study participants. All participants underwent standardized, comprehensive neurocognitive, and neuromedical assessments to determine if they had cognitive impairment as assessed by the Global Deficit Score (GDS), and individuals with comorbidities that could confound diagnosis of HAND were excluded...
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28436151/whole-genome-sequence-association-and-ancestry-informed-polygenic-profile-of-eeg-alpha-in-a-native-american-population
#20
Qian Peng, Nicholas J Schork, Kirk C Wilhelmsen, Cindy L Ehlers
EEG alpha activity is the dominant oscillation in most adult humans, is highly heritable, and has been associated with a number of cognitive functions. Two EEG phenotypes, low- and high-voltage alpha (LVA & HVA), have been demonstrated to have high heritabilities. They have different prevalence depending on a population's ancestral origins. In the present study we assessed the influence of ancestry admixture on EEG alpha power, and conducted a whole genome sequencing association analysis and an ancestry-informed polygenic study on those phenotypes in a Native American (NA) population that has a high prevalence of LVA...
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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