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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/28436623/mthfr-methylation-moderates-the-impact-of-smoking-on-dna-methylation-at-ahrr-for-african-american-young-adults
#1
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
#2
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/28436151/whole-genome-sequence-association-and-ancestry-informed-polygenic-profile-of-eeg-alpha-in-a-native-american-population
#3
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...
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
#4
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/28407408/fmr1-genotype-interacts-with-parenting-stress-to-shape-health-and-functional-abilities-in-older-age
#5
Marsha Mailick, Jinkuk Hong, Jan Greenberg, Leann Smith Dawalt, Mei Wang Baker, Paul J Rathouz
This study investigated the association of genotype (CGG repeats in FMR1) and the health and well-being of 5,628 aging adults (mean age = 71) in a population-based study. Two groups were contrasted: aging parents who had adult children with developmental or mental health disabilities (n = 785; the high-stress parenting group) and aging parents of healthy children who did not have disabilities (n = 4843; the low-stress parenting group). There were significant curvilinear interaction effects between parenting stress group and CGG repeats for body mass index and indicators of health and functional limitations, and the results were suggestive of interactions for limitations in cognitive functioning...
April 13, 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/28190298/mir-149-and-mir-29c-as-candidates-for-bipolar-disorder-biomarkers
#15
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
Bipolar disorder (BD) is a common, recurring psychiatric illness with unknown pathogenesis. Recent studies suggest that microRNA (miRNA) levels in brains of BD patients are significantly altered, and these changes may offer insight into BD pathology or etiology. Previously, we observed significant alterations of miR-29c levels in extracellular vesicles (EVs) extracted from prefrontal cortex (Brodmann area 9, BA9) of BD patients. 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...
February 12, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28304149/predicting-brain-structure-in-population-based-samples-with-biologically-informed-genetic-scores-for-schizophrenia
#16
Sandra Van der Auwera, Katharina Wittfeld, Elena Shumskaya, Janita Bralten, Marcel P Zwiers, A Marten H Onnink, Niccolo Usberti, Johannes Hertel, Henry Völzke, Uwe Völker, Norbert Hosten, Barbara Franke, Hans J Grabe
Schizophrenia is associated with brain structural abnormalities including gray and white matter volume reductions. Whether these alterations are caused by genetic risk variants for schizophrenia is unclear. Previous attempts to detect associations between polygenic factors for schizophrenia and structural brain phenotypes in healthy subjects have been negative or remain non-replicated. In this study, we used genetic risk scores that were based on the accumulated effect of selected risk variants for schizophrenia belonging to specific biological systems like synaptic function, neurodevelopment, calcium signaling, and glutamatergic neurotransmission...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28139055/associations-between-neurodevelopmental-genes-neuroanatomy-and-ultra-high-risk-symptoms-of-psychosis-in-22q11-2-deletion-syndrome
#17
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
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...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27862943/blood-transcriptomic-comparison-of-individuals-with-and-without-autism-spectrum-disorder-a-combined-samples-mega-analysis
#18
Daniel S Tylee, Jonathan L Hess, Thomas P Quinn, Rahul Barve, Hailiang Huang, Yanli Zhang-James, Jeffrey Chang, Boryana S Stamova, Frank R Sharp, Irva Hertz-Picciotto, Stephen V Faraone, Sek Won Kong, Stephen J Glatt
Blood-based microarray studies comparing individuals affected with autism spectrum disorder (ASD) and typically developing individuals help characterize differences in circulating immune cell functions and offer potential biomarker signal. We sought to combine the subject-level data from previously published studies by mega-analysis to increase the statistical power. We identified studies that compared ex vivo blood or lymphocytes from ASD-affected individuals and unrelated comparison subjects using Affymetrix or Illumina array platforms...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27480393/investigating-shared-aetiology-between-type-2-diabetes-and-major-depressive-disorder-in-a-population-based-cohort
#19
Toni-Kim Clarke, Jana Obsteter, Lynsey S Hall, Caroline Hayward, Pippa A Thomson, Blair H Smith, Sandosh Padmanabhan, Lynne J Hocking, Ian J Deary, David J Porteous, Andrew M McIntosh
Type II diabetes (T2D) and major depressive disorder (MDD) are often co-morbid. The reasons for this co-morbidity are unclear. Some studies have highlighted the importance of environmental factors and a causal relationship between T2D and MDD has also been postulated. In the present study we set out to investigate the shared aetiology between T2D and MDD using Mendelian randomization in a population based sample, Generation Scotland: the Scottish Family Health Study (N = 21,516). Eleven SNPs found to be associated with T2D were tested for association with MDD and psychological distress (General Health Questionnaire scores)...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27277535/a-novel-ccm2-variant-in-a-family-with-non-progressive-cognitive-complaints-and-cerebral-microbleeds
#20
Petra E Cohn-Hokke, Henne Holstege, Marjan M Weiss, Wiesje M van der Flier, Frederik Barkhof, Erik A Sistermans, Yolande A L Pijnenburg, John C van Swieten, Hanne Meijers-Heijboer, Philip Scheltens
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family history for early onset Alzheimer's disease. We performed exome sequencing followed by Sanger sequencing for validation purposes on genomic DNA of three siblings with cognitive complaints, reduced amyloid-beta-42 in CSF and multiple cerebral lobar microbleeds. We checked for the occurrence of the variant in a cohort of 363 patients with early onset dementia and/or microbleeds...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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