Article
Biochemistry & Molecular Biology
Dragana D. Protic, Ramkumar Aishworiya, Maria Jimena Salcedo-Arellano, Si Jie Tang, Jelena Milisavljevic, Filip Mitrovic, Randi J. Hagerman, Dejan B. Budimirovic
Summary: FXS is a neurodevelopmental disorder that can be improved through early diagnosis and interventions targeting behavior symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Jian Yang, Xiaoyan He, Li Qian, Binbin Zhao, Yajuan Fan, Fengjie Gao, Bin Yan, Feng Zhu, Xiancang Ma
Summary: This study investigated the causal effects of plasma proteome on ASD, ADHD, and TS using the two-sample Mendelian Randomization approach. The findings indicate that increased levels of MAPKAPK3 and MRPL33 are associated with a higher risk of ASD, while increased MANBA levels are associated with a lower risk of ADHD. These causal associations were robust in sensitivity analysis, suggesting the involvement of the MAPK/ERK signaling pathway and mitochondrial dysfunction in the pathogenesis of ASD, and a role of beta-mannosidase deficiency in the development of ADHD.
Article
Clinical Neurology
Ohad Regev, Amnon Hadar, Gal Meiri, Hagit Flusser, Analya Michaelovski, Ilan Dinstein, Reli Hershkovitz, Idan Menashe
Summary: Prenatal ultrasound shows that children diagnosed with autism spectrum disorder (ASD) often have fetal anomalies, with anomalies in the urinary system, heart, and head/brain being the most strongly associated with ASD diagnosis.
Article
Biochemistry & Molecular Biology
Ekaterina A. Trifonova, Alexandra I. Klimenko, Zakhar S. Mustafin, Sergey A. Lashin, Alex V. Kochetov
Summary: Autism spectrum disorder (ASD) and autoimmune disorders (AID) share genetic heterogeneity and heritability, with a portion of genes related to the mTOR signaling pathway. This suggests that some cases of ASD and AID may involve a common abnormal pathway.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Psychiatry
Ancha Baranova, Jun Wang, Hongbao Cao, Jiang-Huan Chen, Jiu Chen, Miao Chen, Sulin Ni, Xijia Xu, Xiaoyan Ke, Shiping Xie, Jing Sun, Fuquan Zhang
Summary: This study uncovers the genetic relationships between ADHD and ASD, as well as their connections with extraversion. It also identifies novel shared genetic loci for ADHD and ASD.
PSYCHIATRY RESEARCH
(2022)
Review
Genetics & Heredity
Yulian Fang, Yaqiong Cui, Zhaoqing Yin, Mengzhu Hou, Pan Guo, Hanjie Wang, Nan Liu, Chunquan Cai, Mingbang Wang
Summary: This study conducted a systematic review and meta-analysis on the association between genetic variants and autism spectrum disorder (ASD) risk. The results revealed significant associations between certain single nucleotide polymorphisms (SNPs) of candidate genes, including CNTNAP2, MTHFR, OXTR, and VDR, and increased ASD risk.
Article
Psychology, Clinical
Anton P. Martinez, Sophie Wickham, Georgina Rowse, Elizabeth Milne, Richard P. Bentall
Summary: Studies have shown significant associations between autistic traits and probable psychosis, paranoia, thought insertion, and strange experiences in both the APMS 2007 and APMS 2014 datasets. Additionally, a significant association was found between autistic traits and hallucinations.Participants in the highest quartile of autistic traits had increased risk of probable psychosis with odds ratios of 15.5 in 2007 and 22.5 in 2014.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Anders Pretzmann Mikkelsen, Iben Katinka Greiber, Nikolai Madrid Scheller, Ojvind Lidegaard
Summary: A nationwide retrospective cohort study in Denmark found no significant association between maternal exposure to epidural analgesia during labor and autism spectrum disorder in offspring.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2021)
Article
Psychology, Developmental
Ohad Regev, Gal Cohen, Amnon Hadar, Jenny Schuster, Hagit Flusser, Analya Michaelovski, Gal Meiri, Ilan Dinstein, Reli Hershkovitch, Idan Menashe
Summary: The study found evidence of abnormal head growth in children with autism spectrum disorder (ASD) during the prenatal period, particularly in the second trimester. Male fetuses had larger heads than females, and fetal head growth was slower in ASD and TDS groups compared to TDP. Sex had an impact on fetal head growth and its association with the severity of ASD.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
(2021)
Article
Genetics & Heredity
Mateusz Garbulowski, Karolina Smolinska, Klev Diamanti, Gang Pan, Khurram Maqbool, Lars Feuk, Jan Komorowski
Summary: This study utilized interpretable machine learning methods to analyze gene expression data of individuals with autism spectrum disorder (ASD), constructing a nonlinear model based on gene-gene co-predictive network. The findings revealed that autism is the most severe subtype of ASD, with other subtypes showing varying degrees of milder symptoms. Furthermore, the study identified several important gene co-predictors, such as EMC4 and TMEM30A, indicating potential co-regulation between these genes.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, Research & Experimental
Jennifer Bailey Bisson, Cameron Keramati, Carter Colwell, Emily Bott, Kamryn Shealy, Matthew Shiffer
Summary: Side sleeping is associated with the severity of ASD symptoms, with increased time in side sleeping associated with decreased severity of symptoms.
MEDICAL HYPOTHESES
(2022)
Review
Behavioral Sciences
Lei Wang, Weimin Shen, Hao Yao, Rongying Zheng, Wenshu Chen, Weixi Zhang
Summary: The results of this systematic review and meta-analysis suggest a significant association between ASD and FA. The prevalence of FA was higher in individuals with ASD compared to controls, and individuals with ASD were found to be at risk of developing FA. Further research, such as a prospective cohort study, is needed to better understand the relationship between ASD and FA.
Review
Environmental Sciences
Cheng-Kuan Lin, Yuan-Ting Chang, Fu-Shiuan Lee, Szu-Ta Chen, David Christiani
Summary: The study reviewed the impact of prenatal and early childhood exposure to ambient particulate matters on the risk of autism spectrum disorder in children, finding a positive association between PM2.5 exposure and ASD risk.
ENVIRONMENTAL RESEARCH LETTERS
(2021)
Article
Genetics & Heredity
Jinting Guan, Yang Wang, Yiping Lin, Qingyang Yin, Yibo Zhuang, Guoli Ji
Summary: The study analyzed the brain cell-specific molecular pathology of ASD using machine learning, identifying ASD-associated genes and gene sets and highlighting the cell-type heterogeneity of ASD. The constructed predictive models can aid in the diagnosis of ASD and provide new insights for the study and intervention of the disease.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Qiang Zhang, Rong Zou, Min Guo, Mengmeng Duan, Quan Li, Huajun Zheng
Summary: The study found significant differences in gut microbiota between adults with ASD and obese adults, with certain bacterial genera significantly increased in ASD patients and certain species enriched in obesity. Some species identified may serve as predictive biomarkers for obesity.
Article
Psychology, Developmental
Karen Fischer, Jacintha M. Tieskens, Michiel A. J. Luijten, Josjan Zijlmans, Hedy A. van Oers, Rowdy de Groot, Daniel van der Doelen, Hanneke van Ewijk, Helen Klip, Rikkert M. van der Lans, Ronald De Meyer, Malindi van der Mheen, Maud M. van Muilekom, I. Hyun Ruisch, Lorynn Teela, Germie van den Berg, Hilgo Bruining, Rachel van der Rijken, Jan Buitelaar, Pieter J. Hoekstra, Ramon Lindauer, Kim J. Oostrom, Wouter Staal, Robert Vermeiren, Ronald Cornet, Lotte Haverman, Meike Bartels, Tinca J. C. Polderman, Arne Popma
Summary: The study aimed to assess internalizing problems before and during the COVID-19 pandemic. The results showed that internalizing problems were higher during the first peak of the pandemic in the general population, but similar or lower levels were observed over the course of the pandemic. Children in the clinical population reported more internalizing symptoms during the pandemic, while parents did not report differences. These findings indicate negative effects of the pandemic on children and adolescents' internalizing problems in both general and clinical populations.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Article
Psychology, Developmental
Ricarda F. Weiland, Tinca J. C. Polderman, Dirk J. A. Smit, Sander Begeer, Erik Van der Burg
Summary: This study aimed to replicate previous findings on temporal binding and rapid recalibration in individuals with autism spectrum disorder. Contrary to previous studies, this study did not find significant differences in temporal binding window and rapid recalibration between individuals with and without autism spectrum disorder. Age effect might explain the discrepancies to previous studies.
Article
Neurosciences
Yongbin Wei, Siemon C. de Lange, Jeanne E. Savage, Elleke Tissink, Ting Qi, Jonathan Repple, Marius Gruber, Tilo Kircher, Udo Dannlowski, Danielle Posthuma, Martijn P. van den Heuvel
Summary: This study examines the impact of genetic susceptibility to schizophrenia and bipolar disorder on brain connectivity. The findings suggest that the genetic liability of SCZ and BD is associated with normative variations in brain circuitry.
BIOLOGICAL PSYCHIATRY
(2023)
Article
Clinical Neurology
Nike Zoe Welander, Gull Rukh, Mathias Rask-Andersen, Aster V. E. Harder, Arn M. J. M. van den Maagdenberg, Helgi Birgir Schioth, Jessica Mwinyi
Summary: This study found no evidence of a shared genetic basis or of a causal association between migraine and either IBD or celiac disease. However, there were indications of causal associations between celiac disease and migraine subtypes. Further research is needed to investigate these associations.
Article
Biochemistry & Molecular Biology
Jessie W. Brunner, Hanna C. A. Lammertse, Annemiek A. van Berkel, Frank Koopmans, Ka Wan Li, August B. Smit, Ruud F. Toonen, Matthijs Verhage, Sophie van der Sluis
Summary: This study compares different designs and statistical analysis methods used in iPSC research, and finds that commonly used case-control designs are generally underpowered. The study suggests that multiple isogenic pair designs can increase power and require fewer lines. A free web tool is provided for exploring the power of different study designs using any (pilot) data.
MOLECULAR PSYCHIATRY
(2023)
Review
Neurosciences
Matthieu C. de Hemptinne, Danielle Posthuma
Summary: Genome-wide association studies have provided valuable insights into brain and behavioral traits, but they also raise ethical concerns regarding privacy and misuse. Better regulation and guidelines are needed to ensure responsible use of genetic data, and researchers should be cautious about the potential negative impacts of their findings.
NATURE NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Douglas P. Wightman, Jeanne E. Savage, Christiaan A. de Leeuw, Iris E. Jansen, Danielle Posthuma
Summary: Proxy phenotypes based on parental diagnosis status have been used to identify common variants associated with Alzheimer's disease, but rare variants have not been investigated. In this study, a proxy phenotype for Alzheimer's disease/dementia was generated for a large population cohort and rare variant aggregation analyses successfully identified genes associated with the proxy phenotype. Three of these genes were replicated in an independent cohort and have been previously linked to clinically diagnosed Alzheimer's disease. This study demonstrates the utility of proxy phenotypes in identifying genes associated with Alzheimer's disease through rare variant aggregation.
SCIENTIFIC REPORTS
(2023)
Editorial Material
Multidisciplinary Sciences
Emil Uffelmann, Danielle Posthuma, Wouter J. Peyrot
SCIENTIFIC REPORTS
(2023)
Article
Psychiatry
Pritesh Jain, Tyne Miller-Fleming, Apostolia R. Topaloudi, Dongmei K. Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R. Mueller-Vahl, Zeynep A. Tumer, Nanette Mol Debes, Andreas S. Hartmann, Christel E. Depienne, Yulia S. Worbe, Pablo Mir, Danielle C. Cath, Dorret Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, Andrea Dietrich, Carol A. Mathews, Jeremiah M. Scharf, Pieter J. Hoekstra, Lea K. Davis, Peristera Paschou
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Neurosciences
Elleke Tissink, Josefin Werme, Siemon C. de Lange, Jeanne E. Savage, Yongbin Wei, Christiaan A. de Leeuw, Mats Nagel, Danielle Posthuma, Martijn P. van den Heuvel
Summary: This study explores the genetic component of structural and functional connections within resting-state networks (RSNs) and their potential impact on brain disorders. It identifies genes involved in axon guidance and synaptic functioning in the visual network, and reveals the genetic overlap between RSN-FC alterations and brain disorders.
Article
Biochemistry & Molecular Biology
Daniel S. Malawsky, Eva van Walree, Benjamin M. Jacobs, Teng Hiang Heng, Qin Qin Huang, Ataf H. Sabir, Saadia Rahman, Saghira Malik Sharif, Ahsan Khan, Masa Umicevic Mirkov, Hiroyuki Kuwahara, Xin Gao, Fowzan S. Alkuraya, Danielle Posthuma, William G. Newman, Christopher J. Griffiths, Rohini Mathur, David A. van Heel, Sarah Finer, Jared O'Connell, Hilary C. Martin
Summary: This study investigated the association between autozygosity and common diseases, and discovered an effective method to reduce confounding. The results suggest that autozygosity has significant impact on common diseases, especially for type 2 diabetes among British Pakistanis.
Article
Geriatrics & Gerontology
Douglas P. Wightman, Jeanne E. Savage, Elleke Tissink, Cato Romero, Iris E. Jansen, Danielle Posthuma
Summary: Neurodegenerative diseases are a group of disorders characterized by neuronal cell death, causing various physical and mental problems. This study identified genetic overlap between three or more neurodegenerative disorders, including shared genetic loci, important genes, and tissues. These findings are important for understanding and treating neurodegenerative diseases.
NEUROBIOLOGY OF AGING
(2023)
Article
Neurosciences
Vera Fominykh, Alexey A. Shadrin, Piotr P. Jaholkowski, Shahram Bahrami, Lavinia Athanasiu, Douglas P. Wightman, Emil Uffelmann, Danielle Posthuma, Geir Selbaek, Anders M. Dale, Srdjan Djurovic, Oleksandr Frei, Ole A. Andreassen
Summary: This study found shared genetic loci between Alzheimer's disease (AD) and Multiple Sclerosis (MS), indicating the commonalities and associations between these diseases in terms of genetic susceptibility. These shared loci are involved in inflammation and neurodegeneration, suggesting potential shared pathological mechanisms.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Multidisciplinary Sciences
Emily A. A. Willoughby, Tinca J. C. Polderman, Brian B. B. Boutwell
Summary: Behavioural genetics examines the factors behind individual differences in behaviours and capacities. The methods used in this field include twin studies, genome-wide association studies, and statistical modelling. The findings have implications for various research fields and offer insights into the heritability of human traits.
NATURE REVIEWS METHODS PRIMERS
(2023)
Article
Clinical Neurology
Lei S. Zhao, Wenhui Zhao, Jin Cao, Yiheng Tu
Summary: This study used genetic data and Mendelian randomization (MR) to reveal the causal relationship between migraine and microstructural white matter (WM). Specifically, the study found that the mode of anisotropy (MO) of the left inferior fronto-occipital fasciculus and the orientation dispersion index (OD) of the right posterior thalamic radiation exerted significant causal effects on migraine. Migraine also had a significant causal effect on the OD of the left superior cerebellar peduncle.
JOURNAL OF HEADACHE AND PAIN
(2023)