Article
Pediatrics
Hamidreza Abtahi, Marsa Gholamzadeh, Roza Baharii
Summary: This report describes the establishment of the National Persian school-aged twin registry in Iran, including the characteristics, database design, and preliminary results. Data collection was done through focus group discussions and retrieving information from the national database of the Ministry of Education. The registry includes 5,642 pairs of school-aged twins, with 14% of them identified as monozygotic twins.
Article
Sport Sciences
Hannah J. Thomas, Channa E. Marsh, Barbara A. Maslen, Katrina J. Scurrah, Louise H. Naylor, Daniel J. Green
Summary: This study is the first to show individual responsiveness to both RES and END in body composition in the same subjects. RES was superior for increasing lean mass, while both RES and END had positive effects on fat mass. Heritability estimates were higher than training response estimates, with shared environment having the largest influence on changes in body composition. Exercise professionals should consider modality and environmental factors when designing exercise interventions.
MEDICINE AND SCIENCE IN SPORTS AND EXERCISE
(2021)
Article
Multidisciplinary Sciences
Serena F. Generoso, Maria Victoria Neguembor, Elliot A. Hershberg, Ruslan I. Sadreyev, Kazuki Kurimoto, Yukihiro Yabuta, Raffaele Ricci, Pauline Audergon, Moritz Bauer, Mitinori Saitou, Konrad Hochedlinger, Brian J. Beliveau, Maria Pia Cosma, Jeannie T. Lee, Bernhard Payer
Summary: Reactivation of the inactive X chromosome is a key event during reprogramming, and the cohesin complex member SMC1a plays a crucial role in this process. Depletion of SMC1a affects X chromosome reactivation without interfering with iPSC-reprogramming, and it is necessary for the decompacted state of the active X chromosome. Our findings highlight the importance of cohesin in the remodeling of the X chromosome and its critical role in iPSC-reprogramming.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Psychology, Developmental
Sandra Gomez-Vallejo, Marguerite Leoni, Angelica Ronald, Emma Colvert, Francesca Happe, Patrick Bolton
Summary: This study found that children with ASD and their unaffected twins exhibit more obstetric complications than controls. However, these complications do not differentiate between ASD twins and their unaffected co-twins. Additionally, the meta-analysis indicated a minimal impact of birth factors on ASD, suggesting a shared familial liability for both obstetric complications and autism, rather than a causal relationship.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Article
Genetics & Heredity
Janine M. LaSalle
Summary: The article discusses the etiology of autism spectrum disorders and the role of DNA methylation in this process. By studying X chromosome inactivation mechanisms, it reveals the challenges and unanswered questions in studying human development, such as biased sex ratios and male bias.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Rachel Toth, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay
Summary: TOKAS is an X-linked intellectual disability syndrome caused by variants in the gene encoding RLIM. A novel missense variant in RLIM disrupts protein expression and function, leading to a severe form of the syndrome. This variant impairs E3 ubiquitin ligase activity and disrupts X-chromosome inactivation.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Pol Rey-Serra, Mourad Mnejja, Amparo Monfort
Summary: This study identified shared QTLs for fruit traits in different strawberry populations, and discovered new QTL regions for fruit firmness and shape. The results provide valuable genetic information for strawberry breeding programs and offer a new set of SNP markers for use in marker-assisted selection.
Article
Multidisciplinary Sciences
Darcy T. Ahern, Prakhar Bansal, Maria K. Armillei, Isaac V. Faustino, Yuvabharath Kondaveeti, Heather R. Glatt-Deeley, Erin C. Banda, Stefan F. Pinter
Summary: This study investigates the impact of monosomy X on syncytiotrophoblast development in humans using X-monosomic human induced pluripotent stem cells (hiPSCs). The results suggest that monosomy X may alter the levels of placental genes and secretion of placental growth factor (PlGF) and human chorionic gonadotropin (hCG). The findings also demonstrate that the corresponding gene coexpression network modules are preserved in chorionic villi and term placenta.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Zhaochen Bai, Hu Zhao, Shaobin Lin, Linhuan Huang, Zhiming He, Huan Wang, Xueling Ou
Summary: This study validated the potential application of microhaplotype-based noninvasive prenatal testing for paternity, zygosity, and fetal fraction determination in twin pregnancies, with results confirming accuracy and potential advantages in both forensic and clinical settings.
Correction
Multidisciplinary Sciences
Shantha K. Mahadevaiah, Mahesh N. Sangrithi, Takayuki Hirota, James M. A. Turner
Summary: An amendment to the paper has been published and is accessible through a link at the top of the paper.
Review
Cell Biology
Wenlun Wang, Lu Min, Xinyuan Qiu, Xiaomin Wu, Chuanyang Liu, Jiaxin Ma, Dongyi Zhang, Lingyun Zhu
Summary: Long non-coding RNAs (lncRNAs) play important roles in cellular functions by regulating target gene expression levels through epigenomic, transcriptional, and post-transcriptional approaches. Among them, long non-coding RNA X-inactive specific transcript (lncRNA Xist) acts as a crucial regulator in X chromosome inactivation and various disease processes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biology
Andrea Cerase, Alexander N. Young, Nerea Blanes Ruiz, Andreas Buness, Gabrielle M. Sant, Mirjam Arnold, Monica Di Giacomo, Michela Ascolani, Manish Kumar, Andreas Hierholzer, Giuseppe Trigiante, Sarah J. Marzi, Philip Avner
Summary: Chd8 is a key regulator of mammalian Xist expression, activating it in embryonic stem cells and preventing spurious Xist expression in differentiating cells. Xist plays a crucial role in X chromosome inactivation by recruiting repressive histone and DNA modifiers, with its regulation tightly coupled to differentiation. Chromatin remodelers like Chd8 have a new role in Xist regulation and contribute to developmentally-regulated gene expression.
COMMUNICATIONS BIOLOGY
(2021)
Review
Biology
Sara Hagg, Juulia Jylhava
Summary: Aging is a complex biological process with substantial individual variability between men and women. Women generally live longer than men but are frailer at the end of life, while men perform better in physical function examinations. Many age-related diseases exhibit sex-specific patterns.
Article
Multidisciplinary Sciences
Hao Yin, Chunyao Wei, Jeannie T. Lee
Summary: X chromosome inactivation (XCI) is a crucial mechanism for balancing gene expression dosage between male and female mammals, involving noncoding genes within the X inactivation center (Xic). Recent research has shown that deletion of noncoding sequences within Xic plays a significant role in XCI, and counting defects can be bypassed by secondary mutations.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biology
Mark J. Taylor, Tessa M. van Leeuwen, Ralf Kuja-Halkola, Sebastian Lundstrom, Henrik Larsson, Paul Lichtenstein, Sven Bolte, Janina Neufeld
Summary: Synaesthesia is a sensory phenomenon where external stimuli trigger additional sensations. It aggregates in families and is associated with the autism spectrum and autistic traits. Individual differences in self-reported synaesthesia are heritable and influenced by genetic factors, while the association with autistic traits is predominantly under genetic influence and mainly driven by non-social traits.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Article
Psychology, Developmental
Hema Sekhar Reddy Rajula, Mirko Manchia, Kratika Agarwal, Wonuola A. Akingbuwa, Andrea G. Allegrini, Elizabeth Diemer, Sabrina Doering, Elis Haan, Eshim S. Jami, Ville Karhunen, Marica Leone, Laura Schellhas, Ashley Thompson, Stephanie M. van den Berg, Sarah E. Bergen, Ralf Kuja-Halkola, Anke R. Hammerschlag, Marjo Riitta Jarvelin, Amy Leval, Paul Lichtenstein, Sebastian Lundstrom, Matteo Mauri, Marcus R. Munafo, David Myers, Robert Plomin, Kaili Rimfeld, Henning Tiemeier, Eivind Ystrom, Vassilios Fanos, Meike Bartels, Christel M. Middeldorp
Summary: CAPICE is an EU-funded training network focused on investigating the causes of childhood and adolescent psychopathology, particularly depression, anxiety, and ADHD. The network brings together multiple birth and childhood cohorts to study the environmental and genetic factors influencing these mental health issues.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2022)
Article
Neurosciences
Gabriella A. M. Blokland, Jakob Grove, Chia-Yen Chen, Chris Cotsapas, Stuart Tobet, Robert Handa, David St Clair, Todd Lencz, Bryan J. Mowry, Sathish Periyasamy, Murray J. Cairns, Paul A. Tooney, Jing Qin Wu, Brian Kelly, George Kirov, Patrick F. Sullivan, Aiden Corvin, Brien P. Riley, Tonu Esko, Lili Milani, Erik G. Jonsson, Aarno Palotie, Hannelore Ehrenreich, Martin Begemann, Agnes Steixner-Kumar, Pak C. Sham, Nakao Iwata, Daniel R. Weinberger, Pablo Gejman, Alan R. Sanders, Joseph D. Buxbaum, Dan Rujescu, Ina Giegling, Bettina Konte, Annette M. Hartmann, Elvira Bramon, Robin M. Murray, Michele T. Pato, Jimmy Lee, Ingrid Melle, Espen Molden, Roel A. Ophoff, Andrew McQuillin, Nicholas J. Bass, Rolf Adolfsson, Anil K. Malhotra, Nicholas G. Martin, Janice M. Fullerton, Philip B. Mitchell, Peter R. Schofield, Andreas J. Forstner, Franziska Degenhardt, Sabrina Schaupp, Ashley L. Comes, Manolis Kogevinas, Jose Guzman-Parra, Andreas Reif, Fabian Streit, Lea Sirignano, Sven Cichon, Maria Grigoroiu-Serbanescu, Joanna Hauser, Jolanta Lissowska, Fermin Mayoral, Bertram Muller-Myhsok, Thomas G. Schulze, Markus M. Nothen, Marcella Rietschel, John Kelsoe, Marion Leboyer, Stephane Jamain, Bruno Etain, Frank Bellivier, John B. Vincent, Martin Alda, Claire O'Donovan, Pablo Cervantes, Joanna M. Biernacka, Mark Frye, Susan L. McElroy, Laura J. Scott, Eli A. Stahl, Mikael Landen, Marian L. Hamshere, Olav B. Smeland, Srdjan Djurovic, Arne E. Vaaler, Ole A. Andreassen, Bernhard T. Baune, Tracy Air, Martin Preisig, Rudolf Uher, Douglas F. Levinson, Myrna M. Weissman, James B. Potash, Jianxin Shi, James A. Knowles, Roy H. Perlis, Susanne Lucae, Dorret Boomsma, Brenda W. J. H. Penninx, Jouke-Jan Hottenga, Eco J. C. de Geus, Gonneke Willemsen, Yuri Milaneschi, Henning Tiemeier, Hans J. Grabe, Alexander Teumer, Sandra Van der Auwera, Uwe Volker, Steven P. Hamilton, Patrik K. E. Magnusson, Alexander Viktorin, Divya Mehta, Niamh Mullins, Mark J. Adams, Gerome Breen, Andrew M. McIntosh, Cathryn M. Lewis, David M. Hougaard, Merete Nordentoft, Ole Mors, Preben B. Mortensen, Thomas Werge, Thomas D. Als, Anders D. Borglum, Tracey L. Petryshen, Jordan W. Smoller, Jill M. Goldstein
Summary: The study found significant sex-dependent genetic risk in schizophrenia, major depressive disorder, and bipolar disorder, with implications for genes related to neuronal development, immune functions, and vascular functions across and within these disorders. This suggests substantial genetic overlap between sexes in mood and psychotic disorders, with sex-specific effects enriched for genes involved in various physiological functions.
BIOLOGICAL PSYCHIATRY
(2022)
Article
Environmental Sciences
Emily Widnall, Lizzy Winstone, Ruth Plackett, Emma A. Adams, Claire M. A. Haworth, Becky Mars, Judi Kidger
Summary: School closures and social distancing measures during the pandemic have disrupted young people's daily routines and social relationships. The study found that pre-pandemic levels of school and peer connectedness were associated with changes in adolescent mental health and well-being during the lockdown and the return to school. Students with low levels of school and peer connectedness before the pandemic experienced poorer mental health and well-being at all time points. For adolescents with poor school connectedness, the enforced time away from school during the pandemic led to reduced anxiety.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Family Studies
Lizzy Winstone, Becky Mars, Claire M. A. Haworth, Judi Kidger
Summary: Evidence is lacking on how different types of social media use contribute to digital stress in early adolescence. In this study, in-depth interviews were conducted with 24 13-14-year-olds to explore this issue. The interviews were transcribed, coded, and thematically analyzed. The results revealed themes related to passive social media use, private social media communication, and social media broadcasting, all of which contribute to digital stress among adolescents. The study suggests that offline social and emotional resources should be strengthened and effective implementation of privacy settings should be encouraged to enhance resilience against various sources of digital stress.
JOURNAL OF EARLY ADOLESCENCE
(2023)
Article
Endocrinology & Metabolism
Karri Silventoinen, Weilong Li, Aline Jelenkovic, Reijo Sund, Yoshie Yokoyama, Sari Aaltonen, Maarit Piirtola, Masumi Sugawara, Mami Tanaka, Satoko Matsumoto, Laura A. Baker, Catherine Tuvblad, Per Tynelius, Finn Rasmussen, Jeffrey M. Craig, Richard Saffery, Gonneke Willemsen, Meike Bartels, Catharina E. M. van Beijsterveldt, Nicholas G. Martin, Sarah E. Medland, Grant W. Montgomery, Paul Lichtenstein, Robert F. Krueger, Matt McGue, Shandell Pahlen, Kaare Christensen, Axel Skytthe, Kirsten O. Kyvik, Kimberly J. Saudino, Lise Dubois, Michel Boivin, Mara Brendgen, Ginette Dionne, Frank Vitaro, Vilhelmina Ullemar, Catarina Almqvist, Patrik K. E. Magnusson, Robin P. Corley, Brooke M. Huibregtse, Ariel Knafo-Noam, David Mankuta, Lior Abramson, Claire M. A. Haworth, Robert Plomin, Morten Bjerregaard-Andersen, Henning Beck-Nielsen, Morten Sodemann, Glen E. Duncan, Dedra Buchwald, S. Alexandra Burt, Kelly L. Klump, Clare H. Llewellyn, Abigail Fisher, Dorret Boomsma, Thorkild I. A. Sorensen, Jaakko Kaprio
Summary: Using genetic twin design, this study analyzed the genetic correlations of BMI and height in children and adolescents, finding that the genetic correlations of BMI decreased with increasing age between assessments, especially from early to middle childhood, while the genetic correlations of height remained strong across all ages.
INTERNATIONAL JOURNAL OF OBESITY
(2022)
Article
Environmental Sciences
Emily Widnall, Emma A. Adams, Ruth Plackett, Lizzy Winstone, Claire M. A. Haworth, Becky Mars, Judi Kidger
Summary: This qualitative study explores the experiences of young people during the COVID-19 lockdown and school closures. The findings reveal the diversity and complexity of individual experiences, with three main themes identified: learning environments, connection to peers, and transition, adaptation, and coping. The study highlights the importance of face-to-face social contact and school structure to young people, and its implications for future home-based learning. Further qualitative research is needed to understand the varied experiences and long-term impacts.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
Wonuola A. Akingbuwa, Anke R. Hammerschlag, Andrea G. Allegrini, Hannah Sallis, Ralf Kuja-Halkola, Kaili Rimfeld, Paul Lichtenstein, Sebastian Lundstrom, Marcus R. Munafo, Robert Plomin, Michel G. Nivard, Meike Bartels, Christel M. Middeldorp
Summary: Genetic factors partially explain the associations between childhood psychopathology and adult outcomes. Specific adult traits are genetically associated with childhood psychopathology, such as major depression being associated with ADHD, internalizing problems, and social problems. Additionally, educational attainment, BMI, and neuroticism have genetic associations with specific childhood phenotypes, while bipolar disorder, subjective well-being, and insomnia are not associated with any childhood traits.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2023)
Review
Behavioral Sciences
Robert Plomin
Summary: This review looks back on the journey of behavioral genetic research and celebrates milestones, focusing on the last fifty years. The advent of DNA microarrays enabled genome-wide association studies, which successfully identified DNA variants contributing to the heritability of behavioral traits. The DNA revolution in the behavioral sciences allows for the prediction of individual differences in behavior from early in life.
Article
Psychology, Developmental
Agnieszka Gidziela, Margherita Malanchini, Kaili Rimfeld, Andrew McMillan, Angelica Ronald, Essi Viding, Alison Pike, Kathryn Asbury, Thalia C. Eley, Sophie von Stumm, Robert Plomin
Summary: Individual differences in symptoms of behavior problems in childhood and adolescence are primarily due to non-shared environment (NSE), and few specific environmental factors have been found to account for these differences. Home and classroom environments are more likely to influence behavior problem symptoms via genetics than via NSE.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Ziada Ayorech, Jessie R. Baldwin, Jean-Baptiste Pingault, Kaili Rimfeld, Robert Plomin
Summary: This study examines the association between media use and mental health, finding that negative media use is correlated with poor mental health, while general media use is correlated with prosocial behavior and fewer behavioral problems. The study suggests that genetically informed designs should be adopted to strengthen causal inference in research on the mental health impact of media use.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Veera M. Rajagopal, Andrea Ganna, Jonathan R. Coleman, Andrea Allegrini, Georgios Voloudakis, Jakob Grove, Thomas D. Als, Henriette T. Horsdal, Liselotte Petersen, Vivek Appadurai, Andrew Schork, Alfonso Buil, Cynthia M. Bulik, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, David M. Hougaard, Ole Mors, Merete Nordentoft, Thomas Werge, Preben Bo Mortensen, Gerome Breen, Panos Roussos, Robert Plomin, Esben Agerbo, Anders D. Borglum, Ditte Demontis
Summary: Individuals with psychiatric disorders show cognitive differences compared to the general population, which can be observed early in school performance and are genetically influenced. A genome-wide association study revealed a strong negative correlation between math performance and risk for most psychiatric disorders, while language performance correlated positively with risk for certain disorders, especially schizophrenia. Furthermore, genetic variants related to schizophrenia risk and better language performance are more common in individuals involved in creative professions compared to the general population. These findings suggest a potential genetic overlap between language ability, creativity, and psychopathology.
SCIENTIFIC REPORTS
(2023)
Article
Psychiatry
Kaitlyn M. Price, Karen G. Wigg, Else Eising, Yu Feng, Kirsten Blokland, Margaret Wilkinson, Elizabeth N. Kerr, Sharon L. Guger, Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Timothy C. Bates, Manon Bernard, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valeria Csepe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Demonet, Eveline L. de Zeeuw, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Marianna E. Hayiou-Thomas, Juan Hernandez-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Mueller-Myhsok, Dianne F. Newbury, Markus M. Noethen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Korne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Erik G. Willcutt, Margaret J. Wright, Gu Zhu, Simon E. Fisher, Maureen W. Lovett, Lisa J. Strug, Cathy L. Barr
Summary: Reading Disability (RD) is often associated with difficulties in language phonology. Genome-wide association studies have identified genetic loci related to neuronal migration, axon guidance, and autism spectrum disorder (ASD) that may be implicated in RD. This study contributes candidate loci to the genetics of word reading and suggests that alleles linked to ASD risk may also be involved in word reading.
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Public, Environmental & Occupational Health
Alastair R. Tanner, Nina H. Di Cara, Valerio Maggio, Richard Thomas, Andy Boyd, Luke Sloan, Tarek Al Baghal, John Macleod, Claire M. A. Haworth, Oliver S. P. Davis
Summary: Social media provides a unique opportunity for epidemiological cohorts to collect detailed mental health data, while also benefiting social media research by validating digital phenotyping algorithms. However, there is a lack of secure and acceptable software for this purpose. We developed a Python framework called Epicosm, which allows cohorts to gather social media data and link it to their existing cohort data.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2023)
Review
Health Care Sciences & Services
Nina H. Di Cara, Valerio Maggio, Oliver S. P. Davis, M. A. Haworth
Summary: The use of social media data, particularly from Twitter, to predict mental health outcomes has the potential to continuously monitor mental health and provide timely information. However, the quality of the underlying mental health data and the machine learning methods used are crucial for reliable results. This study reviews the current methodologies used in predicting mental health outcomes from Twitter data and highlights the need for high-quality data and improved methodologies.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2023)
Article
Psychology, Biological
Claire M. A. Haworth, Robyn E. Wootton
Summary: This commentary discusses whether we should seek to find the deep causes of behaviors and introduces two methods for further exploration: Mendelian randomization and hypothesis-free gene-environment interaction. These methods contribute to understanding mechanistic pathways and identifying more effective intervention targets.
BEHAVIORAL AND BRAIN SCIENCES
(2023)
