样式: 排序: IF: - GO 导出 标记为已读
-
The effectiveness of psychiatric genetic counseling training: An analysis of 13 international workshops Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-03-21 Tiera Mack, Rolan Batallones, Emily Morris, Angela Inglis, Ramona Moldovan, Kevin McGhee, Kip D. Zimmerman, Jehannine Austin
Studies have consistently shown that psychiatric genetic counseling (pGC) helps people with psychiatric conditions by increasing empowerment and self‐efficacy, and addressing emotions like guilt. Yet, it is not routinely provided. Genetic counselors and trainees express low confidence in their ability to provide meaningful pGC, especially in the absence of adequate training. Therefore, to address this
-
Luxenburger's 1939 Essay on “Schizophrenia and its Hereditary Circle” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-03-16 Kenneth S. Kendler, Astrid Klee
In 1939, Hans Luxenburger published a detailed overview of the current status of schizophrenia genetics research, reaching six major conclusions. First, schizophrenia is clearly a hereditary disease. Second, however, schizophrenia is not the hereditary trait itself but rather the consequences of a slowly developing biological progress, the nature of which remains entirely unknown. Third, the full manifestation
-
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-03-09 Benoit Mazel, Julian Delanne, Aurore Garde, Caroline Racine, Ange‐Line Bruel, Yannis Duffourd, Diego Lopergolo, Filippo Maria Santorelli, Viviana Marchi, Anna Maria Pinto, Maria Antonietta Mencarelli, Roberto Canitano, Floriana Valentino, Filomena Tiziana Papa, Chiara Fallerini, Francesca Mari, Alessandra Renieri, Arnold Munnich, Tanguy Niclass, Gwenaël Le Guyader, Christel Thauvin‐Robinet, Christophe
Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next‐generation sequencing (NGS) now enables unbiased diagnostics
-
-
Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-02-29 Elana J. Forbes, Lottie D. Morison, Fatma Lelik, Tegan Howell, Simone Debono, Himanshu Goel, Pauline Burger, Jean‐Louis Mandel, David Geneviève, David J. Amor, Angela T. Morgan
Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.69–24.34 years, with pathogenic and likely pathogenic DDX3X variants (missense
-
Mental health, coping, and protective factors in mothers of children with 22q11.2 deletion syndrome Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-02-27 Haley McBride, Nandini Jhawar, Laurie Boucicaut, Carrie E. Bearden, Wendy R. Kates, Sarah E. Woolf‐King, Kevin M. Antshel
Compared to the large body of maternal mental health research for other pediatric disorders, we know far less about the experience of mothers of children with 22q11DS. This study investigates the coping methods, protective factors, and mental health of this population. These findings might lead to better support for 22q11DS maternal mental health. An international sample of 71 mothers (M = 40.5 years)
-
Retraction: Population features of alleles and genotypes frequency distribution of polymorphic genetic markers of antipsychotic medications pharmacokinetics in the Kazakh population Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-02-22
Saduakassova, K. Z., & Svyatova, G. S. (2022). Population features of alleles and genotypes frequency distribution of polymorphic genetic markers of antipsychotic medications pharmacokinetics in the Kazakh population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 189B: 100–107. https://doi.org/10.1002/ajmg.b.32893 The above article published online on 16 May 2022 in Wiley
-
Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-02-22 Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Loss‐of‐function CHD2 (chromodomain helicase DNA‐binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early‐onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show psychomotor delay/intellectual disability (ID), autistic features, and behavior disorders, such as aggression and impulsivity. Most reported cases
-
Disentangling differing relationships between internalizing disorders and alcohol use Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-02-20 Maizy S. Brasher, Andrew D. Grotzinger, Naomi P. Friedman, Harry R. Smolker, Luke M. Evans
Both internalizing disorders and alcohol use have dramatic, wide‐spread implications for global health. Previous work has established common phenotypic comorbidity among these disorders, as well as shared genetic variation underlying them both. We used genomic structural equation modeling to investigate the shared genetics of internalizing, externalizing, and alcohol use traits, as well as to explore
-
Mediational pathways between aggregate genetic liability and nonfatal suicide attempt: A Swedish population-based cohort Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-02-17 Séverine Lannoy, Henrik Ohlsson, Mallory Stephenson, Jan Sundquist, Kristina Sundquist, Alexis C. Edwards
Despite recent progress in the genetics of suicidal behavior, the pathway by which genetic liability increases suicide attempt risk is unclear. We investigated the mediational pathways from family/genetic risk for suicide attempt (FGRSSA) to suicide attempt by considering the roles of psychiatric illnesses. In a Swedish cohort, we evaluated time to suicide attempt as a function of FGRSSA and the mediational
-
The role and molecular mechanisms of the early growth response 3 gene in schizophrenia Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-02-07 Qi He, Ruochun Li, Nannan Zhong, Jie Ma, Fayi Nie, Rui Zhang
Schizophrenia is a chronic, debilitating mental illness caused by both genetic and environmental factors. Genetic factors play a major role in schizophrenia development. Early growth response 3 (EGR3) is a member of the EGR family, which is associated with schizophrenia. Accumulating studies have investigated the relationship between EGR3 and schizophrenia. However, the role of EGR3 in schizophrenia
-
Family-based genetic analysis in schizophrenia by whole-exome sequence to identify rare pathogenic variants Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2024-01-31 Binli Shang, Runxu Yang, Kun Lian, Lei Dong, Hongbing Liu, Tianlan Wang, Guangya Yang, Kang Xi, Xiufeng Xu, Yuqi Cheng
Schizophrenia (SCZ) is influenced by a combination of genetic and environmental factors. Although several studies have been conducted to identify the causative loci and genes, few of these loci or genes can be repeated due to the high phenotypic and genetic heterogeneity of disease, and their mechanisms are not fully understood. There may be some “missing heritability” that has not yet been found.
-
Bruno Schulz's 1930 article “The Hereditary Relationships of Old-Age Paranoid Psychosis” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-11-15 Kenneth S. Kendler, Astrid Klee
In the 1899 6th edition of his influential textbook, Kraepelin proposed a diagnostic category of “Old-Age Paranoid Psychosis.” In this 1930 article, Bruno Schulz studied the morbid risk (MR) of several disorders and traits in the parents, siblings, offspring, and nieces/nephews of 51 probands with “Old-Age Paranoid Psychosis.” His results permitted an evaluation of the validity of Kraepelin's category
-
Novel genome-wide associations for effort valuation and psychopathology in children and adults Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-11-12 Nicholas H. Nguyen, T. Mitchell Mazza, Jonathan L. Hess, Avery B. Albert, Sarah Elfstrom, Patricia Forken, Steven D. Blatt, Wanda P. Fremont, Stephen V. Faraone, Stephen J. Glatt
The Research Domain Criteria (RDoC) initiative was established by the US National Institute of Mental Health as a multilevel, disorder-agnostic framework for analysis of human psychopathology through designated domains and constructs, including the “Positive Valence Systems” domain focused on reward-related behavior. This study investigates the reward valuation subconstruct of “effort” and its association
-
Latin American Trans-ancestry INitiative for OCD genomics (LATINO): Study protocol Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-11-09 James J. Crowley, Carolina Cappi, Marcos E. Ochoa-Panaifo, Renee M. Frederick, Minjee Kook, Andrew D. Wiese, Diana Rancourt, Elizabeth G. Atkinson, Paola Giusti-Rodriguez, Jacey L. Anderberg, , Jonathan S. Abramowitz, Victor R. Adorno, Cinthia Aguirre, Gilberto S. Alves, Gustavo S. Alves, NaEshia Ancalade, Alejandro A. Arellano Espinosa, Paul D. Arnold, Daphne M. Ayton, Izabela G. Barbosa, Laura Marcela
Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder. Worldwide, its prevalence is ~2% and its etiology is mostly unknown. Identifying biological factors contributing to OCD will elucidate underlying mechanisms and might contribute to improved treatment outcomes. Genomic studies of OCD are beginning to reveal long-sought risk loci, but >95% of the cases currently in analysis are
-
Predicting ADHD in alcohol dependence using polygenic risk scores for ADHD Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-11-09 Kejal H. S. Patel, G. Bragi Walters, Hreinn Stefánsson, Kári Stefánsson, Franziska Degenhardt, Markus Nothen, Tracey Van Der Veen, Ditte Demontis, Anders Borglum, Mark Kristiansen, Nicholas J. Bass, Andrew McQuillin
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder with a high degree of comorbidity, including substance misuse. We aimed to assess whether ADHD polygenic risk scores (PRS) could predict ADHD diagnosis in alcohol dependence (AD). ADHD PRS were generated for 1223 AD subjects with ADHD diagnosis information and 1818 healthy controls. ADHD PRS distributions were compared
-
Bruno Schulz's 1936 book “Methodology of medical genetic research particularly with regard to psychiatry” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-11-06 Kenneth S. Kendler, Astrid Klee
In 1936, Bruno Schulz published the first detailed, book-length review of the methodology of psychiatric genetic research, based on his experiences at the German Research Institute of Psychiatry. Emphasis is placed on proper selection of relatives and the ascertainment corrections required for Mendelian transmission models. Twin studies are considered as is the impact of reduced fertility on patterns
-
Association of BDNF risk variant and dorsolateral cortical thickness with long-term treatment response to valproate in type I bipolar disorder: An exploratory study Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-11-03 Alejandra Monserrat Rodríguez-Ramírez, Valente Cedillo-Ríos, Marco Antonio Sanabrais-Jiménez, Claudia Becerra-Palars, Sandra Hernández-Muñoz, Hiram Ortega-Ortíz, Beatriz Camarena-Medellin
Valproate is among the most prescribed drugs for bipolar disorder; however, 87% of patients do not report full long-term treatment response (LTTR) to this medication. One of valproate's suggested mechanisms of action involves the brain-derived neurotrophic factor (BDNF), expressed in the brain areas regulating emotions, such as the prefrontal cortex. Nonetheless, data about the role of BDNF in LTTR
-
Systematic exploration of a decade of publications on psychiatric genetics in Latin America Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-10-20 Diana Garro-Núñez, María Jesús Picado-Martínez, Erika Espinoza-Campos, Daniela Ugalde-Araya, Gabriel Macaya, Henriette Raventós, Gabriela Chavarría-Soley
Psychiatric disorders have a great impact in terms of mortality, morbidity, and disability across the lifespan. Considerable effort has been devoted to understanding their complex and heterogeneous genetic architecture, including diverse ancestry populations. Our aim was to review the psychiatric genetics research published with Latin American populations from 2010 to 2019, and classify it according
-
William Boven's 1915 thesis “Similarity and Mendelism in the heredity of dementia praecox and manic-depressive insanity” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-10-19 Kenneth S. Kendler, Virginia Justis
Boven published, in 1915, his MD thesis at the University of Lausanne in which he examined 60 3- to 4-generation pedigrees ascertained from admitted patients with dementia praecox (DP) and manic-depressive insanity (MDI). He asked three questions: (i) were DP and MDI hereditary? (ii) were they the same or distinct conditions? and (iii) were they Mendelian disorders? Based on the rarity of environmental
-
Influence of gut microbiota on the development of most prevalent neurodegenerative dementias and the potential effect of probiotics in elderly: A scoping review Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-10-18 David Mateo, Montse Marquès, José L. Domingo, Margarita Torrente
Dementia is one of today's greatest public health challenges. Its high socio-economic impact and difficulties in diagnosis and treatment are of increasing concern to an aging world population. In recent years, the study of the relationship between gut microbiota and different neurocognitive disorders has gained a considerable interest. Several studies have reported associations between gut microbiota
-
Psychiatric and neurological manifestations in adults with Smith–Magenis syndrome: A scoping review Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-08-16 Dorinde Korteling, Jiska L. I. Musch, Janneke R. Zinkstok, Erik Boot
Smith–Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a 17p11.2 deletion or a pathogenic variant of the RAI1 gene, which lies within the 17p11.2 region. Various psychiatric and neurological disorders have been reported in SMS, with most literature focusing on children and adolescents. To provide an overview of the current knowledge on this topic in adults with SMS, we performed a
-
A polygenic resilience score moderates the genetic risk for schizophrenia: Replication in 18,090 cases and 28,114 controls from the Psychiatric Genomics Consortium Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-08-08 Jonathan L. Hess, Manuel Mattheisen, , Tiffany A. Greenwood, Ming T. Tsuang, Howard J. Edenberg, Peter Holmans, Stephen V. Faraone, Stephen J. Glatt
Identifying heritable factors that moderate the genetic risk for schizophrenia (SCZ) could help clarify why some individuals remain unaffected despite having relatively high genetic liability. Previously, we developed a framework to mine genome-wide association (GWAS) data for common genetic variants that protect high-risk unaffected individuals from SCZ, leading to derivation of the first-ever “polygenic
-
Integrative multi-omics analysis of genomic, epigenomic, and metabolomics data leads to new insights for Attention-Deficit/Hyperactivity Disorder Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-08-03 Nikki Hubers, Fiona A. Hagenbeek, René Pool, Sébastien Déjean, Amy C. Harms, Peter J. Roetman, Catharina E. M. van Beijsterveldt, Vassilios Fanos, Erik A. Ehli, Robert R. J. M. Vermeiren, Meike Bartels, Jouke Jan Hottenga, Thomas Hankemeier, Jenny van Dongen, Dorret I. Boomsma
The evolving field of multi-omics combines data and provides methods for simultaneous analysis across several omics levels. Here, we integrated genomics (transmitted and non-transmitted polygenic scores [PGSs]), epigenomics, and metabolomics data in a multi-omics framework to identify biomarkers for Attention-Deficit/Hyperactivity Disorder (ADHD) and investigated the connections among the three omics
-
Genetic liability for gastrointestinal inflammation disorders and association with gastrointestinal symptoms in children with and without autism Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-07-17 Valerie Morrill, Kelly Benke, John Brinton, Gnakub N. Soke, Laura A. Schieve, Victoria Fields, Homayoon Farzadegan, Calliope Holingue, Craig J. Newschaffer, Ann M. Reynolds, M. Daniele Fallin, Christine Ladd-Acosta
Children with autism spectrum disorder (ASD) have a greater prevalence of gastrointestinal (GI) symptoms than children without ASD. We tested whether polygenic scores for each of three GI disorders (ulcerative colitis, inflammatory bowel disease, and Crohn's disease) were related to GI symptoms in children with and without ASD. Using genotyping data (564 ASD cases and 715 controls) and external genome-wide
-
Ryssia Wolfsohn's 1907 dissertation on “the heredity of dementia praecox” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-07-13 Kenneth S. Kendler, Astrid Klee
In the 19th century, psychiatric genetic studies typically utilized a generic category of “insanity.” This began to change after 1899, with the publication of Kraepelin's 6th edition containing, among other disorders, his mature concept of dementia praecox (DP). We here review an article published by Ryssia Wolfsohn in 1907 from her dissertation at the University of Zurich entitled “Die Heredität bei
-
Distinguishing happiness and meaning in life from depressive symptoms: A GWAS-by-subtraction study in the UK Biobank Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-07-12 Lianne P. de Vries, Perline A. Demange, Bart M. L. Baselmans, Christiaan H. Vinkers, Dirk H. M. Pelt, Meike Bartels
Hedonic (happiness) and eudaimonic (meaning in life) well-being are negatively related to depressive symptoms. Genetic variants play a role in this association, reflected in substantial genetic correlations. We investigated the overlap and differences between well-being and depressive symptoms, using results of Genome-Wide Association studies (GWAS) in UK Biobank. Subtracting GWAS summary statistics
-
Multi-polygenic scores in psychiatry: From disorder specific to transdiagnostic perspectives Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-06-19 Yingjie Shi, Emma Sprooten, Peter Mulders, Janna Vrijsen, Janita Bralten, Ditte Demontis, Anders D. Børglum, G. Bragi Walters, Kari Stefansson, Philip van Eijndhoven, Indira Tendolkar, Barbara Franke, Nina Roth Mota
The dense co-occurrence of psychiatric disorders questions the categorical classification tradition and motivates efforts to establish dimensional constructs with neurobiological foundations that transcend diagnostic boundaries. In this study, we examined the genetic liability for eight major psychiatric disorder phenotypes under both a disorder-specific and a transdiagnostic framework. The study sample
-
Life is pain: Fibromyalgia as a nexus of multiple liability distributions Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-06-19 Arden Moscati, Annika B. Faucon, Cayetana Arnaiz-Yépez, Sara Larsson Lönn, Jan Sundquist, Kristina Sundquist, Gillian M. Belbin, Girish Nadkarni, Judy H. Cho, Ruth J. F. Loos, Lea K. Davis, Kenneth S. Kendler
Fibromyalgia is a complex disease of unclear etiology that is complicated by difficulties in diagnosis, treatment, and clinical heterogeneity. To clarify this etiology, healthcare-based data are leveraged to assess the influences on fibromyalgia in several domains. Prevalence is less than 1% of females in our population register data, and about 1/10th that in males. Fibromyalgia often presents with
-
The examination of Kraepelin's diagnoses of dementia praecox and manic-depressive insanity in pedigrees: Studies of Schuppius in 1912 and Wittermann in 1913 Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-06-08 Kenneth S. Kendler, Astrid Klee
In the first two decades of the 20th century, a new approach to psychiatric genetics research emerged in Germany from three roots: (i) the wide-spread acceptance of Kraepelin's diagnostic system, (ii) increasing interest in pedigree research, and (iii) excitement about Mendelian models. We review two relevant papers, reporting analyses of, respectively, 62 and 81 pedigrees: S. Schuppius in 1912 and
-
Genetic examination of the Mood Disorder Questionnaire and its relationship with bipolar disorder Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-05-13 Jessica Mundy, Christopher Hübel, Brett N. Adey, Helena L. Davies, Molly R. Davies, Jonathan R. I. Coleman, Matthew Hotopf, Gursharan Kalsi, Sang Hyuck Lee, Andrew M. McIntosh, Henry C. Rogers, Thalia C. Eley, Robin M. Murray, Evangelos Vassos, Gerome Breen
The Mood Disorder Questionnaire (MDQ) is a common screening tool for bipolar disorder that assesses manic symptoms. Its utility for genetic studies of mania or bipolar traits has not been fully examined. We psychometrically compared the MDQ to self-reported bipolar disorder in participants from the United Kingdom National Institute of Health and Care Research Mental Health BioResource. We conducted
-
How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia? Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-05-09 Tiahna Moorthy, Huyen Nguyen, Ying Chen, Jehannine Austin, Jordan W. Smoller, Laura Hercher, Maya Sabatello
Polygenic risk scores (PRS) are promising for identifying common variant-related inheritance for psychiatric conditions but their integration into clinical practice depends on their clinical utility and psychiatrists' understanding of PRS. Our online survey explored these issues with 276 professionals working in psychiatric genetics (RR: 19%). Overall, participants demonstrated knowledge of how to
-
Irma Weinberg's 1928 paper “on the problem of the determination of heredity prognosis: The risk in the cousins of schizophrenics” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-04-17 Kenneth S. Kendler, Astrid Klee, Eric J. Engstrom
Irma Weinberg, a German-Jewish Neuropsychiatrist/Physician, authored the fourth report from the German Research Institute for Psychiatry in Munich examining the risk for dementia praecox (DP) in particular relatives of DP probands, here first-cousins. She examined 977 cousins of 54 DP probands and found a best-estimate risk of 1.4%. She conducted within-study analyses, showing a much higher risk for
-
Polygenic prediction of bipolar disorder in a Latin American sample Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-03-15 Alfredo B. Cuellar-Barboza, Miguel L. Prieto, Brandon J. Coombes, Manuel Gardea-Resendez, Nicolás Núñez, Stacey J. Winham, Francisco Romo-Nava, Sarai González, Susan L. McElroy, Mark A. Frye, Joanna M. Biernacka
To date, bipolar disorder (BD) genetic studies and polygenic risk scores (PRSs) for BD are based primarily on populations of European descent (EUR) and lack representation from other ancestries including Latin American (LAT). Here, we describe a new LAT cohort from the Mayo Clinic Bipolar Biobank (MCBB), a multisite collaboration with recruitment sites in the United States (EUR; 1,443 cases and 777
-
De novo mutations disturb early brain development more frequently than common variants in schizophrenia Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-03-02 Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhongming Zhao
Investigating functional, temporal, and cell-type expression features of mutations is important for understanding a complex disease. Here, we collected and analyzed common variants and de novo mutations (DNMs) in schizophrenia (SCZ). We collected 2,636 missense and loss-of-function (LoF) DNMs in 2,263 genes across 3,477 SCZ patients (SCZ-DNMs). We curated three gene lists: (a) SCZ-neuroGenes (159 genes)
-
The impact of receiving polygenic risk scores for alcohol use disorder on psychological distress, risk perception, and intentions to reduce drinking Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-03-01 Morgan N. Driver, Sally I-Chun Kuo, Jacqueline S. Dron, Jehannine Austin, Danielle M. Dick
For the return of polygenic risk scores to become an acceptable clinical practice in psychiatry, receipt of polygenic risk scores must be associated with minimal harm and changes in behavior that decrease one's risk for developing a psychiatric outcome. Data from a randomized controlled trial was used to assess the impact of different levels of hypothetical polygenic risk scores for alcohol use disorder
-
The era of the Dawn of Mendelian research in the field of psychiatry: Rüdin's 1922 review paper “regarding the heredity of mental disturbances” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-02-27 Kenneth S. Kendler, Astrid Klee
On September 27, 1922, Ernst Rüdin gave an address to the Annual Conference of the German Society of Genetics entitled “Regarding the Heredity of Mental Disturbances.” Published in a 37-page article, Rüdin reviewed the progress in the field of Mendelian psychiatric genetics, then hardly more than a decade old. Topics included (a) the status of Mendelian analyses of dementia praecox and manic-depressive
-
The relationship between case–control differential gene expression from brain tissue and genetic associations in schizophrenia Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-01-18 Nicholas E. Clifton, Anton Schulmann, , Peter A. Holmans, Michael C. O'Donovan, Marquis P. Vawter
Large numbers of genetic loci have been identified that are known to contain common risk alleles for schizophrenia, but linking associated alleles to specific risk genes remains challenging. Given that most alleles that influence liability to schizophrenia are thought to do so by altered gene expression, intuitively, case–control differential gene expression studies should highlight genes with a higher
-
The role of the gut microbiota in patients with Kleefstra syndrome Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2023-01-11 Mirjam Bloemendaal, Priscilla Vlaming, Anneke de Boer, Karlijn Vermeulen-Kalk, Arianne Bouman, Tjitske Kleefstra, Alejandro Arias Vasquez
Kleefstra Syndrome (KS) is a rare monogenetic syndrome, caused by haploinsufficiency of the euchromatic histone methyl transferase 1 (EHMT1) gene, an important regulator of neurodevelopment. The clinical features of KS include intellectual disability, autistic behavior and gastrointestinal problems. The gut microbiota, an important modifier of the gut-brain-axis, may constitute an unexplored mechanism
-
Karl Grassmann's 1896 paper “critical overview of contemporary theories of the heredity of the psychoses” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-12-09 Kenneth S. Kendler, Astrid Klee
Four years before the rediscovery of Mendel's work in 1900, Karl Grassmann published a detailed, scholarly review of the heredity of psychosis which we here review. A full translation is in the appendix. We emphasize seven major conclusions from this review. First, while recognizing the key importance of heredity in the etiology of psychosis. Grassmann was critical of many of the highly speculative
-
Polygenic and environmental determinants of tics in the Avon Longitudinal Study of Parents and Children Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-12-08 Mohamed Abdulkadir, Jay A. Tischfield, Gary A. Heiman, Pieter J. Hoekstra, Andrea Dietrich
Tourette syndrome (TS) is caused by multiple genetic and environmental factors. Yet, little is known about the interplay of these factors in the occurrence of tics. We investigated whether polygenic risk score (PRS) of TS and pregnancy-related factors together enhance the explained variance of tic occurrence in the Avon Longitudinal Study of Parents and Children (Ncases = 612; Ncontrols = 4,201; 50%
-
Multivariate analyses of molecular genetic associations between childhood psychopathology and adult mood disorders and related traits Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-11-15 Wonuola A. Akingbuwa, Anke R. Hammerschlag, Andrea G. Allegrini, Hannah Sallis, Ralf Kuja-Halkola, Kaili Rimfeld, Paul Lichtenstein, Sebastian Lundstrom, Marcus R. Munafò, Robert Plomin, Michel G. Nivard, Meike Bartels, Christel M. Middeldorp
Ubiquitous associations have been detected between different types of childhood psychopathology and polygenic risk scores based on adult psychiatric disorders and related adult outcomes, indicating that genetic factors partly explain the association between childhood psychopathology and adult outcomes. However, these analyses in general do not take into account the correlations between the adult trait
-
Influence of antidepressant treatment on SLC6A4 methylation in Korean patients with major depression Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-09-12 Young Kyung Moon, Hyeseung Kim, Seonwoo Kim, Shinn-Won Lim, Doh Kwan Kim
Genetic variation of the serotonin transporter gene (SLC6A4) has been suggested as potential mediator for antidepressant response in patients with depression. This study aimed to determine whether DNA methylation in SLC6A4 changes after antidepressant treatment and whether it affects treatment response in patients with depression. Overall, 221 Korean patients with depression completed 6 weeks of selective
-
Within subject cross-tissue analyzes of epigenetic clocks in substance use disorder postmortem brain and blood Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-09-03 Brenda Cabrera-Mendoza, Laura Stertz, Katherine Najera, Sudhakar Selvaraj, Antonio L. Teixeira, Thomas D. Meyer, Gabriel R. Fries, Consuelo Walss-Bass
There is a possible accelerated biological aging in patients with substance use disorders (SUD). The evaluation of epigenetic clocks, which are accurate estimators of biological aging based on DNA methylation changes, has been limited to blood tissue in patients with SUD. Consequently, the impact of biological aging in the brain of individuals with SUD remains unknown. In this study, we evaluated multiple
-
Genetics and epigenetics of self-injurious thoughts and behaviors: Systematic review of the suicide literature and methodological considerations Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-08-17 Salahudeen Mirza, Anna R. Docherty, Amanda Bakian, Hilary Coon, Jair C. Soares, Consuelo Walss-Bass, Gabriel R. Fries
Suicide is a multifaceted and poorly understood clinical outcome, and there is an urgent need to advance research on its phenomenology and etiology. Epidemiological studies have demonstrated that suicidal behavior is heritable, suggesting that genetic and epigenetic information may serve as biomarkers for suicide risk. Here we systematically review the literature on genetic and epigenetic alterations
-
ADHD-associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient-derived cell lines Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-08-16 Franziska Radtke, Viola Stella Palladino, Rhiannon V. McNeill, Andreas G. Chiocchetti, Denise Haslinger, Matthias Leyh, Danijel Gersic, Markus Frank, Lena Grünewald, Stephan Klebe, Oliver Brüstle, Katharina Günther, Frank Edenhofer, Thorsten M. Kranz, Andreas Reif, Sarah Kittel-Schneider
Recent studies show an association of Parkin RBR E3 ubiquitin protein ligase (PARK2) copy number variations (CNVs) with attention deficit hyperactivity disorder (ADHD). The aim of our pilot study to investigate gene expression associated with PARK2 CNVs in human-derived cellular models. We investigated gene expression in fibroblasts, hiPSC and dopaminergic neurons (DNs) of ADHD PARK2 deletion and duplication
-
Cross-sectional and longitudinal associations between gut microbiota composition and cognition in the second year of life: Findings from the Child Health and Resident Microbes study Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-08-13 Misa Matsuyama, Nida Murtaza, Mark Morrison, Peter S.W. Davies, Rebecca J. Hill, Amy Loughman
The relationship between the gut microbiota and brain function are receiving increasing research attention. Studies investigating gut microbiota and early childhood neurocognition are limited, particularly in longitudinal measurements. We examined cross-sectional relationships between gut microbiota of a cohort of otherwise healthy children using 16S rRNA sequencing and their cognitive development
-
CELSR1 variants are associated with partial epilepsy of childhood Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-08-12 Zheng Chen, Sheng Luo, Zhi-Gang Liu, Yan-Chun Deng, Su-Li He, Xiao-Rong Liu, Yong-Hong Yi, Jie Wang, Liang-Di Gao, Bing-Mei Li, Zhi-Jun Wu, Zi-Long Ye, De-Hai Liang, Wen-Jun Bian, Wei-Ping Liao
CELSR1 gene, encoding cadherin EGF LAG seven-pass G-type receptor 1, is mainly expressed in neural stem cells during the embryonic period. It plays an important role in neurodevelopment. However, the relationship between CELSR1 and disease of the central nervous system has not been defined. In this study, we performed trios-based whole-exome sequencing in a cohort of 356 unrelated cases with partial
-
Ludvig Dahl's psychiatric genetic studies in his 1859 monograph: “Contribution to the knowledge of insanity in Norway” Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-24 Kenneth S. Kendler, Nikolai Czajkowski, Ted Reichborn-Kjennerud
In 1859, Ludvig Dahl, a Norwegian alienist, wrote a rarely referenced book entitled “Contribution to The Knowledge of Insanity.” In it, he describes a highly innovative psychiatric genetics research project with severable notable features. First, while the vast majority of 19th century psychiatric genetic studies were based on asylum hospital records, Dahl did field work to find cases of mental illness
-
Cover Image, Volume 189B, Number 5, July 2022 Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-19
-
The shared genetic basis of mood instability and psychiatric disorders: A cross-trait genome-wide association analysis Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-15 Guy Hindley, Kevin S. O'Connell, Zillur Rahman, Oleksandr Frei, Shahram Bahrami, Alexey Shadrin, Margrethe C. Høegh, Weiqiu Cheng, Naz Karadag, Aihua Lin, Linn Rødevand, Chun C. Fan, Srdjan Djurovic, Trine V. Lagerberg, Anders M. Dale, Olav B. Smeland, Ole A. Andreassen
Recent genome-wide association studies of mood instability (MOOD) have found significant positive genetic correlation with major depression (DEP) and weak correlations with other psychiatric disorders. We investigated the polygenic overlap between MOOD and psychiatric disorders beyond genetic correlation to better characterize putative shared genetic determinants. GWAS summary statistics for schizophrenia
-
A phenome-wide association study of polygenic scores for attention deficit hyperactivity disorder across two genetic ancestries in electronic health record data Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-15 Maria Niarchou, Julia M. Sealock, Peter Straub, Sandra Sanchez-Roige, James S. Sutcliffe, Lea K. Davis
Testing the association between genetic scores for Attention Deficit Hyperactivity Disorder (ADHD) and health conditions, can help us better understand its complex etiology. Electronic health records linked to genetic data provide an opportunity to test whether genetic scores for ADHD correlate with ADHD and additional health outcomes in a health care context across different age groups. We generated
-
Clinical, demographic, and genetic risk factors of treatment-attributed suicidality in >10,000 Australian adults taking antidepressants Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-14 Adrian I. Campos, Enda M. Byrne, Frank Iorfino, Chiara Fabbri, Ian B. Hickie, Cathryn M. Lewis, Naomi R. Wray, Sarah E. Medland, Miguel E. Rentería, Nicholas G. Martin
Emergence of suicidal symptoms has been reported as a potential antidepressant adverse drug reaction. Identifying risk factors associated could increase our understanding of this phenomenon and stratify individuals at higher risk. Logistic regressions were used to identify risk factors of self-reported treatment-attributed suicidal ideation (TASI). We then employed classifiers to test the predictive
-
FOXO4 alleviates hippocampal neuronal damage in epileptic mice via the miR-138-5p/ROCK2 axis Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-07 Xin Jin, Xingjuan Liao, Longfei Wu, Jianling Huang, Zhimin Li, Yali Li, Fan Guo
Epilepsy (EP) is one of the most universal neurological disorders. This study investigated the mechanism of forkhead box protein O4 (FOXO4) on hippocampal neuronal damage in EP mice. Initially, the EP mouse model and the in vitro HT-22 cell model were established. EP seizures and neuronal damage in mice were assessed. FOXO4, microRNA (miR)-138-5p, and rho-associated coiled-coil containing protein kinase
-
Psychiatric polygenic risk scores: Child and adolescent psychiatrists' knowledge, attitudes, and experiences Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-06 Stacey Pereira, Katrina A. Muñoz, Brent J. Small, Takahiro Soda, Laura N. Torgerson, Clarissa E. Sanchez, Jehannine Austin, Eric A. Storch, Gabriel Lázaro-Muñoz
Psychiatric polygenic risk scores (PRS) have potential utility in psychiatric care and prevention, but there are concerns about their implementation. We surveyed 960 US-based practicing child and adolescent psychiatrists' (CAP) about their experiences, perspectives, and potential uses of psychiatric PRS. While 23% of CAP reported that they had never heard of PRS, 10 % of respondents have had a patient/family
-
Recommendations to encourage participation of individuals from diverse backgrounds in psychiatric genetic studies Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-04 Casey MacDermod, Michaela A. Pettie, Emily A. Carrino, Susana Cruz Garcia, Sophie Padalecki, Jody E. Finch, Christina Sanzari, Hannah L. Kennedy, Pratiksha S. Pawar, Makenna M. Mcgough, Ava Iwashita, Mary Takgbajouah, Danielle Coan, Lindsey Szakasits, Rachel W. Goode, Ya-Ke Wu, Mae Lynn Reyes-Rodríguez, Eva María Trujillo Chi Vacuán, Martin A. Kennedy, Lana Cleland, Jennifer Jordan, Sarah Maguire,
We present innovative research practices in psychiatric genetic studies to ensure representation of individuals from diverse ancestry, sex assigned at birth, gender identity, age, body shape and size, and socioeconomic backgrounds. Due to histories of inappropriate and harmful practices against marginalized groups in both psychiatry and genetics, people of certain identities may be hesitant to participate
-
The actions and interactions of family genetic risk scores for alcohol use disorder and major depression on the risk for these two disorders Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-02 Kenneth S. Kendler, Sara L. Lönn, Jan Sundquist, Kristina Sundquist
We know little about how genetic risk factors for two disorders jointly act and interact in predisposing to illness. Therefore, in the Swedish population, born 1970–1990 (n = 2,116,082) and followed through 2015, we examine, using additive Cox models, the impact of the family genetic risk scores (FGRS) for alcohol use disorder (AUD) and major depression (MD), their interaction with each other and with
-
Medical genetics in the 19th century as background to the development of psychiatric genetics Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-07-02 Kenneth S. Kendler
This article examines the relationship between the early efforts of alienists to understand the role of heredity in the etiology of insanity in the 19th century and the parallel efforts of the nascent discipline of medical genetics. I review three monographs on general medical genetics: Adams in 1814, Steinau in 1843, and Lithgow in 1889. Numerous parallels were seen between their writings and those
-
Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-06-28 Daichi Shigemizu, Yuya Asanomi, Shintaro Akiyama, Sayuri Higaki, Takashi Sakurai, Kengo Ito, Shumpei Niida, Kouichi Ozaki
Dementia with Lewy bodies (DLB) is the second most common form of neurodegenerative dementia in elderly people, following Alzheimer's disease. Only three genes, SNCA (α-synuclein), APOE (apolipoprotein E), and GBA (glucosylceramidase), have been convincingly demonstrated to be associated with DLB. Here, we applied whole-genome sequencing to blood samples from 61 DLB patients and 45 cognitively normal
-
Functional characterization of the schizophrenia associated gene AS3MT identifies a role in neuronal development Am. J. Med. Genet. B Neuropsychiatr. Genet. (IF 2.8) Pub Date : 2022-06-19 Sam J. Washer, Robert Flynn, Asami Oguro-Ando, Eilis Hannon, Joe Burrage, Aaron Jeffries, Jonathan Mill, Emma L. Dempster
Genome-wide association studies (GWAS) have identified multiple genomic regions associated with schizophrenia, although many variants reside in noncoding regions characterized by high linkage disequilibrium (LD) making the elucidation of molecular mechanisms challenging. A genomic region on chromosome 10q24 has been consistently associated with schizophrenia with risk attributed to the AS3MT gene.