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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/29250928/longitudinal-interplays-of-estrogen-receptor-alpha-gene-rs9340799-with-social-environmental-factors-on-post-traumatic-stress-disorder-in-chinese-han-adolescents-after-wenchuan-earthquake
#1
Yue Feng, Mi Su, Yan Jun Si, Qi Wei Guo, Jia Lin, Ting Cao, Xin Zhang, Mei Fan, Ding Zhi Fang
Indirect evidences suggested associations of estrogen receptor alpha (ESR1) with post-traumatic stress disorder (PTSD). However, the relationship between rs9340799 on ESR1 gene and PTSD has not been reported yet. The present study was to explore the longitudinal changes of prevalence and severity of PTSD in adolescents with different genotypes of rs9340799 after the 2008 Wenchuan earthquake. Social-environmental factors were collected by questionnaires in 465 high school students. Variants of rs9340799 were determined by polymerase chain reaction-restriction fragment length polymorphism analyses and verified by DNA sequencing...
December 18, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29243876/familial-transmission-of-externalizing-syndromes-in-extended-swedish-families
#2
Kenneth S Kendler, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist
Risk for criminal behavior (CB), alcohol use disorder (AUD), and drug abuse (DA) are known to be familial. We know less about their transmission across three generations. We examined 844,109 probands born in Sweden 1980-1990, their parents, aunts/uncles, and grandparents for registration in population-based registers for CB, AUD, and DA. Mean tetrachoric relative-proband correlations (95% CIs) were highest for DA (+0.24, 0.24-0.25), followed by CB (+0.23,0.22-0.23) and AUD (+0.17, 0.16-0.17). AUD and CB were relatively stably transmitted across generations, while DA resemblance among relatives was stronger in the younger generations...
December 15, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29243874/emotional-and-behavioral-problems-in-children-and-adolescents-with-neurofibromatosis-type-1
#3
André B Rietman, Thijs van der Vaart, Ellen Plasschaert, Bethany A Nicholson, Rianne Oostenbrink, Lianne C Krab, Mie-Jef Descheemaeker, Marie-Claire Y de Wit, Henriëtte A Moll, Eric Legius, Pieter F A de Nijs
To assess emotional and behavioral problems in children and adolescents with neurofibromatosis type 1,parents of 183 individuals aged 10.8 ± 3.1 years (range 6-17) completed the Child Behavior Checklist (CBCL). Also, 173 teachers completed the Teacher's Report Form (TRF), and 88 adolescents (children from 11 to 17 years) completed the Youth Self-Report (YSR). According to parental ratings, 32% scored in the clinical range (above the 90th percentile). This percentage was much lower when rated by teachers or adolescents themselves...
December 15, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29243873/a-comprehensive-review-of-genetic-and-epigenetic-mechanisms-that-regulate-bdnf-expression-and-function-with-relevance-to-major-depressive-disorder
#4
REVIEW
Benjamin Hing, Leela Sathyaputri, James B Potash
Major depressive disorder (MDD) is a mood disorder that affects behavior and impairs cognition. A gene potentially important to this disorder is the brain derived neurotrophic factor (BDNF) as it is involved in processes controlling neuroplasticity. Various mechanisms exist to regulate BDNF's expression level, subcellular localization, and sorting to appropriate secretory pathways. Alterations to these processes by genetic factors and negative stressors can dysregulate its expression, with possible implications for MDD...
December 15, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29193655/polygenic-risk-scores-distinguish-patients-from-non-affected-adult-relatives-and-from-normal-controls-in-schizophrenia-and-bipolar-disorder-multi-affected-kindreds
#5
Sébastien Boies, Chantal Mérette, Thomas Paccalet, Michel Maziade, Alexandre Bureau
Recent studies have used results on SNP association with schizophrenia (SZ) and bipolar disorder (BD) to create polygenic risk scores (PRS) discriminating non-familial unrelated patients from controls. Little is known about the role of PRS in densely affected multigenerational families. We tested PRS differences between affected SZ and BD family members from their non-affected adult relatives (NAARs) in Eastern Quebec Kindreds and from controls. We examined 1227 subjects: from 17 SZ and BD kindreds, we studied 153 patients (57 SZ, 13 schizoaffective, and 83 BD) and 180 NAARs, and 894 unrelated controls from the Eastern Quebec population...
November 28, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29171685/slc6a3-polymorphism-and-response-to-methylphenidate-in-children-with-adhd-a-systematic-review-and-meta-analysis
#6
REVIEW
Robabeh Soleimani, Zivar Salehi, Soheil Soltanipour, Tolou Hasandokht, Mir Mohammad Jalali
Methylphenidate (MPH) is the most commonly used treatment for attention-deficit hyperactivity disorder (ADHD) in children. However, the response to MPH is not similar in all patients. This meta-analysis investigated the potential role of SLC6A3 polymorphisms in response to MPH in children with ADHD. Clinical trials or naturalistic studies were selected from electronic databases. A meta-analysis was conducted using a random-effects model. Cohen's d effect size and 95% confidence intervals (CIs) were determined...
November 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29159863/genome-wide-gene-environment-interaction-in-depression-a-systematic-evaluation-of-candidate-genes-the-childhood-trauma-working-group-of-pgc-mdd
#7
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, Martin Preisig, Marcella Rietschel, Stephan Ripke, Patrick Sullivan, Alexander Teumer, Henry Völzke, Dorret I Boomsma, Naomi R Wray, Brenda Penninx, Hans Grabe
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 completed the Childhood Trauma Questionnaire...
November 21, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29152901/broad-spectrum-of-neuropsychiatric-phenotypes-associated-with-white-matter-disease-in-pten-hamartoma-tumor-syndrome
#8
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
White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. 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...
November 20, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29152850/estimation-of-minimal-disease-prevalence-from-population-genomic-data-application-to-primary-familial-brain-calcification
#9
Gaël Nicolas, Camille Charbonnier, Dominique Campion, Joris A Veltman
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...
November 20, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29152845/association-of-immp2l-deletions-with-autism-spectrum-disorder-a-trio-family-study-and-meta-analysis
#10
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
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...
November 20, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29150900/genetic-overlap-between-epilepsy-and-schizophrenia-evidence-from-cross-phenotype-analysis-in-hong-kong-chinese-population
#11
Hongsheng Gui, Miaoxin Li, Pak C Sham, Larry Baum, Patrick Kwan, Stacey S Cherny
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...
November 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29140583/association-study-of-ndst3-gene-for-schizophrenia-bipolar-disorder-major-depressive-disorder-in-the-han-chinese-population
#12
Lin Wang, Jianhua Chen, Zhiqiang Li, Weiming Sun, Boyu Chen, Sining Li, Weidong Li, Dajiang Lu, Yonggang Wang, Yongyong Shi
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, rs10857057, rs2389521, rs4833564, rs6837896, rs7689157, rs3817274, rs609512) covering NDST3 gene in 1,248 schizophrenia cases, 1,056 major depression cases, 1,344 bipolar disorder cases, and 1,248 controls of Chinese origin...
November 15, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29135068/contribution-of-genes-in-the-gabaergic-pathway-to-bipolar-disorder-and-its-executive-function-deficit-in-the-chinese-han-population
#13
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
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...
November 14, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29095566/predictive-testing-of-minors-for-huntington-s-disease-the-uk-and-netherlands-experiences
#14
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, Sascha Vermeer, Corien C Verschuuren-Bemelmans, Emilia K Bijlsma
A consistent feature of predictive testing guidelines for Huntington's disease (HD) is the recommendation not to undertake predictive tests on those < 18 years. Exceptions are made but the extent of, and reasons for, deviation from the guidelines are unknown. The UK Huntington's Prediction Consortium has collected data annually on predictive tests undertaken from the 23 UK genetic centers. DNA analysis for HD in the Netherlands is centralized in the Laboratory for Diagnostic Genome Analysis in Leiden. In the UK, 60 tests were performed on minors between 1994 and 2015 representing 0...
November 2, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29080331/optn-p-met468arg-and-atxn2-intermediate-length-polyq-extension-in-families-with-c9orf72-mediated-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#15
Sali M K Farhan, Tania F Gendron, Leonard Petrucelli, Robert A Hegele, Michael J Strong
We have ascertained two families affected with familial amyotrophic lateral sclerosis (ALS) in which they both carry a hexanucleotide repeat expansion in the C9orf72 gene, specifically in individuals who also presented with frontotemporal dementia (FTD) or behavioral variant FTD (bvFTD). While some reports attribute this phenotypic heterogeneity to the C9orf72 expansion alone, we screened for additional genetic variation in known ALS-FTD genes that may also contribute to or modify the phenotypes. We performed genetic testing consisting of C9orf72 hexanucleotide expansion, ATXN2 polyglutamine (polyQ) expansion, and targeted next generation sequencing using the ONDRISeq, a gene panel consisting of 80 genes known to be associated with neurodegenerative diseases such as ALS, FTD, Alzheimer's disease, Parkinson's disease, and vascular cognitive impairment...
October 28, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29031008/identification-of-a-novel-homozygous-trappc9-gene-mutation-causing-non-syndromic-intellectual-disability-speech-disorder-and-secondary-microcephaly
#16
Ansar A Abbasi, Kathrin Blaesius, Hao Hu, Zahid Latif, Sylvie Picker-Minh, Muhammad N Khan, Sundas Farooq, Muzammil A Khan, Angela M Kaindl
TRAPPC9 gene mutations have been linked recently to autosomal recessive mental retardation 13 (MRT13; MIM#613192) with only eight families reported world-wide. We assessed patients from two consanguineous pedigrees of Pakistani descent with non-syndromic intellectual disability and postnatal microcephaly through whole exome sequencing (WES) and cosegregation analysis. Here we report six further patients from two pedigrees with homozygous TRAPPC9 gene mutations, the novel nonsense mutation c.2065G>T (p.E689*) and the previously identified nonsense mutation c...
December 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29027364/a-functional-polymorphism-of-the-oxtr-gene-is-associated-with-autistic-traits-in-caucasian-and-asian-populations
#17
Christian Montag, Cornelia Sindermann, Martin Melchers, Sonja Jung, Ruixue Luo, Benjamin Becker, Jiang Xie, Wenming Xu, Adam J Guastella, Keith M Kendrick
There is increasing evidence for associations between polymorphisms of the oxytocin receptor (OXTR) gene and autism spectrum disorder, but to date no study has established links with autistic traits in healthy subjects and potential cultural differences. The present research firstly investigated associations between three widely studied OXTR SNPs and autistic and empathic traits (rs53576 (G/A); rs2254298 (G/A); rs2268498 (T/C)) in two independent studies on male and female Caucasian (n = 537) and Chinese students (n = 280)...
December 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28990359/ancestry-specific-and-sex-specific-risk-alleles-identified-in-a-genome-wide-gene-by-alcohol-dependence-interaction-study-of-risky-sexual-behaviors
#18
Renato Polimanti, Hongyu Zhao, Lindsay A Farrer, Henry R Kranzler, Joel Gelernter
We previously mapped loci for the genome-wide association studies (GWAS) and genome-wide gene-by-alcohol dependence interaction (GW-GxAD) analyses of risky sexual behaviors (RSB). 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...
December 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28990294/genetic-and-molecular-risk-factors-within-the-newly-identified-primate-specific-exon-of-the-sap97-dlg1-gene-in-the-3q29-schizophrenia-associated-locus
#19
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, Toru Nishikawa
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...
December 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28981195/nhe5-deficiency-enhances-learning-and-memory-via-upregulating-bdnf-trkb-signaling-in-mice
#20
Xuejiao Chen, Xiyi Wang, Lingyun Tang, Jinjin Wang, Chunling Shen, Jianbing Liu, Shunyuan Lu, Hongxin Zhang, Ying Kuang, Jian Fei, Zhugang Wang
Nhe5, a Na(+) /H(+) exchanger, is predominantly expressed in brain tissue and is proposed to act as a negative regulator of dendritic spine growth. Up to now, its physiological function in vivo remains unclear. Here we show that Nhe5-deficient mice exhibit markedly enhanced learning and memory in Morris water maze, novel object recognition, and passive avoidance task. Meanwhile, the pre- and post-synaptic components, synaptophysin (Syn) and post-synaptic density 95 (PSD95) expression levels were found increased in hippocampal regions lacking of Nhe5, suggesting a possible alterations in neuronal synaptic structure and function in Nhe5(-/-) mice...
December 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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