Article
Multidisciplinary Sciences
Robert H. George Markowitz, Abigail Leavitt LaBella, Mingjian Shi, Antonis Rokas, John A. Capra, Jane F. Ferguson, Jonathan D. Mosley, Seth R. Bordenstein
Summary: This study analyzed the effects of genetic variations related to the gut microbiome on clinical traits and discovered associations with neurological, metabolic, digestive, and circulatory diseases. The study also found correlations between specific genetic variants and the abundance of specific microbial strains. These findings highlight the triad relationship between the human genome, microbiome, and disease, and suggest the potential for precision diagnostics and therapeutics based on genetic influences on the microbiome.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Public, Environmental & Occupational Health
Shuai Yuan, Lijuan Wang, Jing Sun, Lili Yu, Xuan Zhou, Jie Yang, Yimin Zhu, Dipender Gill, Stephen Burgess, Joshua C. Denny, Susanna C. Larsson, Evropi Theodoratou, Xue Li
Summary: This study used Mendelian randomization to investigate the associations between sex hormone binding globulin (SHBG), testosterone, and estradiol levels and disease outcomes. The results suggest a causal relationship between sex hormones and several health outcomes.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Geriatrics & Gerontology
Archita S. Khaire, Courtney E. Wimberly, Eleanor C. Semmes, Jillian H. Hurst, Kyle M. Walsh
Summary: By conducting a phenome-wide association study, this research identified significant associations between LOAD-associated SNPs and platelet morphology, and implicated epidermal growth factor receptor in Alzheimer's disease susceptibility for the first time.
NEUROBIOLOGY OF AGING
(2022)
Article
Medicine, General & Internal
Shuai Yuan, Jing Sun, Ying Lu, Fengzhe Xu, Doudou Li, Fangyuan Jiang, Zhongxiao Wan, Xue Li, Li-Qiang Qin, Susanna C. Larsson
Summary: Through Mendelian randomization analysis and two-sample MR analysis, we have identified associations between milk consumption and various diseases, including cataract, hypercholesterolemia, and anal and rectal polyps. The systematic review also found that genetically predicted milk consumption was inversely associated with asthma, hay fever, multiple sclerosis, colorectal cancer, and Alzheimer's disease, and positively associated with Parkinson's disease, renal cell carcinoma, metabolic syndrome, overweight, and obesity.
Article
Medicine, General & Internal
Shuai Yuan, Lili Yu, Wanglong Gou, Lijuan Wang, Jing Sun, Doudou Li, Ying Lu, Xiaxia Cai, Huanling Yu, Changzheng Yuan, Ju-Sheng Zheng, Susanna C. Larsson, Evropi Theodoratou, Xue Li
Summary: This study utilized phenome-wide Mendelian randomisation (MR-PheWAS) analysis and systematic review of MR studies to investigate the health effects of serum calcium. The findings suggest that high serum calcium is associated with increased or decreased risk of various diseases, with some associations being replicated in two-sample MR analysis.
Article
Virology
Ancha Baranova, Hongbao Cao, Shaolei Teng, Fuquan Zhang
Summary: Through genetic correlation analysis and Mendelian randomization analysis, this study identified several risk factors for COVID-19 hospitalization, including unhealthy lifestyle factors and health conditions. Additionally, protective factors such as higher education attainment, physical activity, and never smoking were also identified. These findings have important implications for risk stratification and prevention of severe outcomes in patients with COVID-19.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Geriatrics & Gerontology
Wenxiu Wang, Ninghao Huang, Zhenhuang Zhuang, Zimin Song, Yueying Li, Xue Dong, Wendi Xiao, Yimin Zhao, Jinzhu Jia, Zhonghua Liu, Lu Qi, Tao Huang
Summary: Telomere length has been found to be associated with various health outcomes. Through a large-scale Mendelian randomization study, it is suggested that genetically determined telomere length might have causal effects on respiratory diseases, digestive diseases, myocardial infarction, neoplasms, diseases of the genitourinary system, and essential hypertension.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Review
Genetics & Heredity
Shiying Liu, Dana C. Crawford
Summary: Phenome-wide association studies (PheWAS) have significantly advanced in the past decade, uncovering novel genotype-phenotype relationships. With advancements in methods and resources, the potential of PheWAS has been realized to a greater extent, but challenges remain in further understanding the complex genetic architecture underlying human diseases and traits.
TRENDS IN GENETICS
(2022)
Article
Gastroenterology & Hepatology
Winston Cai, Andrew Cagan, Zeling He, Ashwin N. Ananthakrishnan
Summary: Crohn's disease (CD) and ulcerative colitis (UC) are associated with significant healthcare costs. Factors such as intestinal obstruction, metabolic imbalance, and psychological comorbidity play key roles in determining total healthcare costs in patients with IBD.
DIGESTIVE DISEASES AND SCIENCES
(2021)
Article
Endocrinology & Metabolism
Daniel E. Coral, Juan Fernandez-Tajes, Neli Tsereteli, Hugo Pomares-Millan, Hugo Fitipaldi, Pascal M. Mutie, Naeimeh Atabaki-Pasdar, Sebastian Kalamajski, Alaitz Poveda, Tyne W. Miller-Fleming, Xue Zhong, Giuseppe N. Giordano, Ewan R. Pearson, Nancy J. Cox, Paul W. Franks
Summary: Coral et al. identify genetically determined discordance between obesity and type 2 diabetes, discovering genes that may provide protection against type 2 diabetes in obesity. The study shows two obesity profiles with highly concordant and discordant diabetogenic effects, and highlights key differences in various traits related to cardiovascular health, metabolism, and gut bacteria composition.
Review
Genetics & Heredity
Lijuan Wang, Xiaomeng Zhang, Xiangrui Meng, Fotios Koskeridis, Andrea Georgiou, Lili Yu, Harry Campbell, Evropi Theodoratou, Xue Li
Summary: Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review provides a comprehensive overview of PheWAS methodology, discussing its advantages and challenges, and offering potential implications for future studies. The majority of PheWAS studies included over 10,000 participants, defined phenotypes based on electronic medical records data, used genetic variants as predictors, and conducted replication analysis to validate findings.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Matthew T. Patrick, Redina Bardhi, Wei Zhou, James T. Elder, Johann E. Gudjonsson, Lam C. Tsoi
Summary: This study demonstrates the utility of the UK Biobank as a population assay for rare diseases. By constructing a consensus mapping between ICD-10 codes and ORPHA codes and performing genetic association analysis, the researchers identified and characterized 420 rare diseases affecting individuals in the UK Biobank. Significant genetic associations for specific diseases were also identified. The study also highlights the transferability of the mapping method to other databases.
Article
Clinical Neurology
Monika Baker, Clint C. Mason, Jacob Wilkes, David Sant, Matthew Sweney, Joshua L. Bonkowsky
Summary: This study compared long-term health and neurological outcomes in infantile spasms patients treated with ACTH or PRED. The results showed that both treatment methods had similar outcomes in terms of neurological and non-neurological results. However, the PRED-treated group had a higher incidence of abnormal neurodiagnostic tests.
FRONTIERS IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Shan-Shan Dong, Kun Zhang, Yan Guo, Jing-Miao Ding, Yu Rong, Jun-Cheng Feng, Shi Yao, Ruo-Han Hao, Feng Jiang, Jia-Bin Chen, Hao Wu, Xiao-Feng Chen, Tie-Lin Yang
Summary: The study identified potential causal effects of childhood obesity on 60 adult traits, but found that the detrimental effects on disease-related traits were no longer present after accounting for adult BMI. The associations between childhood BMI and increased risks of diseases in adulthood are likely attributed to individuals remaining obese in later life.
Article
Multidisciplinary Sciences
Chang Yoon Moon, Brian M. Schilder, Towfique Raj, Kuan-Lin Huang
Summary: This study found that host genetic variations associated with severe COVID-19 show genetic pleiotropy with multiple genes and traits, potentially informing disease etiology. Through various analyses, associations affecting immune responses were identified among other factors, indicating the complex interaction between genetic factors and severe COVID-19 outcomes.
Article
Psychology, Clinical
Yllza Xerxa, Leslie A. Rescorla, Lilly Shanahan, Henning Tiemeier, William E. Copeland
Summary: This study found that childhood loneliness is associated with anxiety and depressive disorders in young adults, suggesting that loneliness may have long-term effects on mental health. The study highlights the importance of early intervention to prevent loneliness and its consequences.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychology, Developmental
Sara Sammallahti, Elisa Holmlund-Suila, Runyu Zou, Saara Valkama, Jenni Rosendahl, Maria Enlund-Cerullo, Helena Hauta-Alus, Marius Lahti-Pulkkinen, Hanan El Marroun, Henning Tiemeier, Outi Makitie, Sture Andersson, Katri Raikkonen, Kati Heinonen
Summary: Higher maternal vitamin D concentration during pregnancy is associated with better child mental health, particularly in relation to negative affectivity, a trait indicating increased risk of psychopathology. The study found that higher maternal early/mid-pregnancy vitamin D levels were associated with lower negative affectivity in infants, while cord blood vitamin D levels showed less clear associations. These findings suggest that maternal vitamin D status during early- and mid-pregnancy may play a role in the behavioral development of offspring.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Article
Neurosciences
Shu Liu, Dirk J. A. Smit, Abdel Abdellaoui, Guido A. van Wingen, Karin J. H. Verweij
Summary: This study examines the association between genetic predispositions to mental health and cognitive traits and brain variations in structure and function. The findings show that certain traits are related to brain structure, while others are related to brain function. The study also reveals that genetic predispositions to certain disorders have stronger associations with brain structure, while others have stronger associations with brain function.
BIOLOGICAL PSYCHIATRY-COGNITIVE NEUROSCIENCE AND NEUROIMAGING
(2023)
Article
Cardiac & Cardiovascular Systems
Abigail Dove, Jie Guo, Anna Marseglia, Johan Fastbom, Davide Liborio Vetrano, Laura Fratiglioni, Nancy L. Pedersen, Weili Xu
Summary: This study aims to examine the association between cardiometabolic multimorbidity in mid- and late-life and dementia, and investigate the role of genetic background in this association. The results suggest that cardiometabolic multimorbidity, especially in mid-life, is associated with an increased risk of dementia. Genetic factors may contribute to this association.
EUROPEAN HEART JOURNAL
(2023)
Article
Clinical Neurology
Aniko Lovik, Juan Gonzalez-Hijon, Anna K. Kahler, Unnur A. Valdimarsdottr, Emma M. Frans, Patrik K. E. Magnusson, Nancy L. Pedersen, Per Hall, Kamila Czene, Patrick F. Sullivan, Fang Fang
Summary: The study aims to describe the mental health burden experienced in Sweden during the COVID-19 pandemic. The results show that a considerable proportion of the population had symptoms of depression, anxiety, and PTSD, with 43.4% having significant symptoms for at least one of the three outcomes. However, the prevalence of these symptoms in Sweden is lower than previously reported levels during the pandemic.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
Article
Psychology, Clinical
Wei-Chen Wang, Ming Ding, Susanne Strohmaier, Eva Schernhammer, Qi Sun, Jorge E. Chavarro, Henning Tiemeier
Summary: This study found an association between maternal healthy lifestyles and offspring depressive symptoms, which was mediated by offspring's healthy lifestyles.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychiatry
Koen Bolhuis, Lisa R. Steenkamp, Henning Tiemeier, Laura Blanken, Jean-Baptiste Pingault, Charlotte A. M. Cecil, Hanan El Marroun
Summary: This study found that there is an association between maternal childhood adversity and offspring childhood adversity, and offspring childhood adversity further mediates the relationship between maternal childhood adversity and offspring hallucinations and delusions.
SCHIZOPHRENIA BULLETIN
(2023)
Article
Neurosciences
Dirk J. A. Smit, Melissa Bakker, Abdel Abdellaoui, Alexander E. Hoetink, Nienke Vulink, Damiaan Denys
Summary: In this study, the genetic etiology of misophonia was investigated, revealing significant correlations between this symptom and tinnitus, major depression disorder, post-traumatic stress disorder, and generalized anxiety disorder, as well as personality traits consistent with anxiety and PTSD.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Psychiatry
Sandra Sanchez-Roige, Mariela Jennings, Hayley H. A. Thorpe, Jazlene Mallari, Lieke C. van der Werf, Sevim B. Bianchi, Yuye Huang, Calvin Lee, Travis T. Mallard, Samuel A. Barnes, Jin Yi Wu, Amanda M. Barkley-Levenson, Ely C. Boussaty, Cedric E. Snethlage, Danielle Schafer, Zeljana Babic, Boyer D. Winters, Katherine E. Watters, Thomas Biederer, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Daniella Coker, Gabriel Cuellar Partida, Devika Dhamija, Sayantan Das, Teresa Filshtein, Kipper Fletez-Brant, Will Freyman, Karl Heilbron, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Ethan M. Jewett, Yunxuan Jiang, Katelyn Kukar, Keng-Han Lin, Maya Lowe, Jey C. McCreight, Matthew H. McIntyre, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O'Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Janie F. Shelton, Jingchunzi Shi, Suyash Shringarpure, Vinh Tran, Joyce Y. Tung, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton, Alejandro Hernandez, Corinna Wong, Christophe Toukam Tchakoute, James Mackillop, David N. Stephens, Sarah L. Elson, Pierre Fontanillas, Jibran Y. Khokhar, Jared W. Young, Abraham A. Palmer
Summary: Impulsivity is a heritable trait associated with various forms of psychopathology, and the gene CADM2 is found to be implicated in it. Genome-wide association studies and mouse experiments have confirmed this finding. This study further explores the role of CADM2 in impulsivity and its link with other psychiatric and somatic traits.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Psychiatry
Bram W. C. Storosum, Cedrine Steinz, Sem E. E. Cohen, Taina Mattila, Wim van den Brink, Kit Roes, Lieuwe de Haan, Damiaan A. J. P. Denys, Jasper B. B. Zantvoord
Summary: This study analyzed the data of 3880 patients with schizophrenia and found that ethnicity does not moderate the response to antipsychotic medication.
Article
Psychiatry
A. Tsompanidis, L. Blanken, Z. A. Broere-Brown, B. B. van Rijn, S. Baron-Cohen, H. Tiemeier
Summary: Autism is more prevalent in males, and males on average score higher on measures of autistic traits. Placental function is significantly affected by the sex of the fetus. It is unclear if sex differences in placental function are associated with sex differences in the occurrence of autistic traits postnatally.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Psychiatry
Monique Kammeraat, Geeske van Rooijen, Lisette Kuijper, Julian D. Kiverstein, Damiaan A. J. P. Denys
Summary: Based on the study, the social demographic and psychiatric profiles of patients who requested and received euthanasia and assisted suicide (EAS) were found to be similar. Most of the patients requesting EAS were single females, living independently with a comorbid diagnosis of depression and a history of psychiatric treatment. Among the small group of patients who received EAS, the majority were also single women with depressive disorder. A subgroup of patients with somatic disorders, anxiety disorders, obsessive-compulsive disorders, and neurocognitive disorders were over-represented in the group of patients receiving EAS. Many patients who withdrew their requests for EAS benefited from discussions with end of life experts at EE. Health professionals can make a difference to this vulnerable patient group if they receive training on discussing end of life.
Article
Psychology, Clinical
Margot P. van de Weijer, Perline A. Demange, Dirk H. M. Pelt, Meike Bartels, Michel G. Nivard
Summary: This study examines the associations between educational duration and well-being, anxiety and mood disorders, and cardiovascular health. The results suggest that these associations are more likely due to confounding or bias rather than a true causal effect of education. The study emphasizes the importance of using multiple methods to enhance our understanding of the causal consequences of educational duration.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Neurosciences
Camiel M. van der Laan, Steve G. A. van de Weijer, Rene Pool, Jouke-Jan Hottenga, Toos C. E. M. van Beijsterveldt, Gonneke Willemsen, Meike Bartels, Michel G. Nivard, Dorret I. Boomsma
Summary: Family members resemble each other in their propensity for aggression, with approximately 50% of the variance in aggression explained by genetic influences. This study investigated the importance of PGSs and found significant direct effects on aggression for PGSs based on early-life aggression, educational attainment, and ADHD, though the explained variance was low. Further research on other PGSs related to aggression and related phenotypes is needed to determine the generalizability of these findings to overall genetic influences on aggression.
BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE
(2023)
Article
Philosophy
Maarten van Westen, Erik Rietveld, Annemarie van Hout, Damiaan Denys
Summary: Despite technological innovations, clinical expertise remains the cornerstone of psychiatry. Ethnography is a method that can capture the subjective and situation-specific nature of clinical expertise. The study aims to explore the role of clinical expertise in deep brain stimulation optimization for obsessive-compulsive disorder (OCD), and the findings highlight the mutually constitutive relationship between patterns of clinical practice and particular situations.
PHENOMENOLOGY AND THE COGNITIVE SCIENCES
(2023)