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Machine Learning for Personalised Risk Assessment of HIV, Syphilis, Gonorrhoea, and Chlamydia: A Systematic Review and Meta-analysis

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International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2025年 157卷 107922页

作者： Phyu M Latt Nyi N Soe Christopher K Fairley Eric P F Chow Cheryl C Johnson Purvi Shah Ismail Maatouk Lei Zhang Jason J Ong Artificial Intelligence and Modelling in Epidemiology Program Melbourne Sexual Health Centre Alfred Health Melbourne Australia School of Translational Medicine Faculty of Medicine Nursing and Health Sciences Monash University Melbourne Australia. Electronic address: phyu.latt@monash.edu. School of Translational Medicine Faculty of Medicine Nursing and Health Sciences Monash University Melbourne Australia. School of Translational Medicine Faculty of Medicine Nursing and Health Sciences Monash University Melbourne Australia Melbourne Sexual Health Centre Alfred Health Melbourne Australia. Melbourne Sexual Health Centre Alfred Health Melbourne Australia Centre for Epidemiology and Biostatistics Melbourne School of Population and Global Health The University of Melbourne Melbourne Australia. Global HIV Hepatitis and STIs Programmes World Health Organization Geneva Switzerland. Global HIV Hepatitis and STIs Programmes World Health Organization Geneva Switzerland Regional Support Team Asia Pacific UNAIDS Thailand. Clinical Medical Research Centre Children's Hospital of Nanjing Medical University Nanjing Jiangsu Province China. Department of Clinical Research London School of Hygiene and Tropical Medicine London United Kingdom.

BACKGROUND:Machine learning (ML) shows promise for sexually transmitted infection (STI) risk prediction, but systematic evidence of its effectiveness remains fragmented. METHODS:We systematically searched six electronic databases, three preprint archives, and conference proceedings (January 2010-April 2024). Studies reporting quantitative performance metrics for supervised ML-based STI risk prediction models were included. We used a bivariate random-effects model to estimate pooled sensitivity, specificity, and area under the curve (AUC). The risk of bias was assessed using the PROBAST tool. We conducted sequential analyses of studies with complete and reconstructed confusion matrices. Subgroup analyses and meta-regression explored potential sources of heterogeneity. RESULTS:Among 3,877 records screened, 25 studies comprising 45 unique models met inclusion criteria. For HIV, analysis of studies with complete confusion matrices (7 studies, 9 contingency tables) demonstrated summary AUC of 0.91 (95%CI:0.88-0.93), pooled sensitivity 0.84 (0.76-0.90), and specificity 0.84 (0.70-0.93). Substantial heterogeneity persisted across subgroups (I²>98%). For other STIs, individual studies reported AUCs ranging from 0.75-0.87 for syphilis (n=5), 0.73-1.00 for gonorrhoea (n=6), and 0.67-1.00 for chlamydia (n=6). DISCUSSION:While ML models show promising performance, particularly for HIV, significant heterogeneity complicates interpretation. Future research should prioritise external validation, standardised guidelines, and multi-centred robust implementation studies to evaluate clinical impact.

关键词： Chlamydia Gonorrhoea HIV Machine learning Risk assessment Syphilis Systematic review meta-analysis

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Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder

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Molecular psychiatry 2023年第12期28卷 5251-5261页

作者： Azmeraw T Amare Anbupalam Thalamuthu Klaus Oliver Schubert Janice M Fullerton Muktar Ahmed Simon Hartmann Sergi Papiol Urs Heilbronner Franziska Degenhardt Fasil Tekola-Ayele Liping Hou Yi-Hsiang Hsu Tatyana Shekhtman Mazda Adli Nirmala Akula Kazufumi Akiyama Raffaella Ardau Bárbara Arias Jean-Michel Aubry Roland Hasler Hélène Richard-Lepouriel Nader Perroud Lena Backlund Abesh Kumar Bhattacharjee Frank Bellivier Antonio Benabarre Susanne Bengesser Joanna M Biernacka Armin Birner Cynthia Marie-Claire Pablo Cervantes Hsi-Chung Chen Caterina Chillotti Sven Cichon Cristiana Cruceanu Piotr M Czerski Nina Dalkner Maria Del Zompo J Raymond DePaulo Bruno Étain Stephane Jamain Peter Falkai Andreas J Forstner Louise Frisen Mark A Frye Sébastien Gard Julie S Garnham Fernando S Goes Maria Grigoroiu-Serbanescu Andreas J Fallgatter Sophia Stegmaier Thomas Ethofer Silvia Biere Kristiyana Petrova Ceylan Schuster Kristina Adorjan Monika Budde Maria Heilbronner Janos L Kalman Mojtaba Oraki Kohshour Daniela Reich-Erkelenz Sabrina K Schaupp Eva C Schulte Fanny Senner Thomas Vogl Ion-George Anghelescu Volker Arolt Udo Dannlowski Detlef Dietrich Christian Figge Markus Jäger Fabian U Lang Georg Juckel Carsten Konrad Jens Reimer Max Schmauß Andrea Schmitt Carsten Spitzer Martin von Hagen Jens Wiltfang Jörg Zimmermann Till F M Andlauer Andre Fischer Felix Bermpohl Philipp Ritter Silke Matura Anna Gryaznova Irina Falkenberg Cüneyt Yildiz Tilo Kircher Julia Schmidt Marius Koch Kathrin Gade Sarah Trost Ida S Haussleiter Martin Lambert Anja C Rohenkohl Vivien Kraft Paul Grof Ryota Hashimoto Joanna Hauser Stefan Herms Per Hoffmann Esther Jiménez Jean-Pierre Kahn Layla Kassem Po-Hsiu Kuo Tadafumi Kato John Kelsoe Sarah Kittel-Schneider Ewa Ferensztajn-Rochowiak Barbara König Ichiro Kusumi Gonzalo Laje Mikael Landén Catharina Lavebratt Marion Leboyer Susan G Leckband Alfonso Tortorella Mirko Manchia Lina Martinsson Michael J McCarthy Susan McElroy Francesc Colom Vincent Millischer Marina Mitjans Francis M Mondimore Palmiero Monteleone Caroline Discipline of Psychiatry School of Medicine University of Adelaide Adelaide SA Australia. azmeraw.amare@adelaide.edu.au. Centre for Healthy Brain Ageing (CHeBA) Discipline of Psychiatry and Mental Health UNSW Medicine & Health University of New South Wales Sydney Australia. Discipline of Psychiatry School of Medicine University of Adelaide Adelaide SA Australia. Northern Adelaide Local Health Network Mental Health Services Adelaide SA Australia. Neuroscience Research Australia Sydney NSW Australia. School of Medical Sciences University of New South Wales Sydney NSW Australia. Institute of Psychiatric Phenomics and Genomics (IPPG) University Hospital LMU Munich Munich Germany. Department of Psychiatry and Psychotherapy University Hospital Ludwig-Maximilian-University Munich Munich Germany. Institute of Human Genetics University of Bonn School of Medicine & University Hospital Bonn Bonn Germany. Department of Child and Adolescent Psychiatry Psychosomatics and Psychotherapy LVR Klinikum Essen University of Duisburg-Essen Rheinische Kliniken Essen Germany. Epidemiology Branch Division of Population Health Research Division of Intramural Research Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD USA. Intramural Research Program National Institute of Mental Health National Institutes of Health US Department of Health & Human Services Bethesda MD USA. HSL Institute for Aging Research Harvard Medical School Boston MA USA. Program for Quantitative Genomics Harvard School of Public Health Boston MA USA. Department of Psychiatry University of California San Diego San Diego CA USA. Department of Psychiatry and Psychotherapy Charité - Universitätsmedizin Berlin Campus Charité Mitte Berlin Germany. Department of Biological Psychiatry and Neuroscience Dokkyo Medical University School of Medicine Mibu Tochigi Japan. Unit of Clinical Pharmacology Hospital University Agency of Caglia

Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental health disorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li) in patients with BD. To gain further insights into lithium's possible molecular mechanism of action, we performed a genome-wide gene-based analysis. Using polygenic score modeling, via methods incorporating Bayesian regression and continuous shrinkage priors, Li was developed in the International Consortium of Lithium Genetics cohort (ConLiGen: N = 2367) and replicated in the combined PsyCourse (N = 89) and BipoLife (N = 102) studies. The associations of Li and lithium treatment response - defined in a continuous ALDA scale and a categorical outcome (good response vs. poor response) were tested using regression models, each adjusted for the covariates: age, sex, and the first four genetic principal components. Statistical significance was determined at P < 0.05. Li was positively associated with lithium treatment response in the ConLiGen cohort, in both the categorical (P = 9.8 × 10, R = 1.9%) and continuous (P = 6.4 × 10, R = 2.6%) outcomes. Compared to bipolar patients in the 1 decile of the risk distribution, individuals in the 10 decile had 3.47-fold (95%CI: 2.22-5.47) higher odds of responding favorably to lithium. The results were replicated in the independent cohorts for the categorical treatment outcome (P = 3.9 × 10, R = 0.9%), but not for the continuous outcome (P = 0.13). Gene-based analyses revealed 36 candidate genes that are enriched in biological pathways controlled by glutamate and acetylcholine. Li may be useful in the development of pharmacog

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The equity group: Supporting Cochrane's social responsibility of improving health equity

Cochrane evidence synthesis and methods

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Cochrane evidence synthesis and methods 2023年第3期1卷 e12012页

作者： Roses Parker Jennifer Petkovic Jordi Pardo Pardo Andrea Darzi Omar Dewidar Joanne Khabsa Elizabeth Kristjansson Tamara Lotfi Olivia Magwood Lawrence Mbuagbaw Kevin Pottie Alison Riddle Ammar Saad Eve Tomlinson Peter Tugwell Vivian Welch The Cochrane Collaboration London UK. Bruyère Research Institute and University of Ottawa Ottawa Ontario Canada. Department of Medicine Faculty of Medicine University of Ottawa Ottawa Ontario Canada. Ottawa Hospital Research Institute Ottawa Methods Centre Ottawa Ontario Canada. Department of Health Research Methods Evidence and Impact McMaster University Hamilton Ontario Canada. Department of Anesthesia Faculty of Health Sciences McMaster University Hamilton Ontario Canada. Michael G. DeGroote National Pain Center McMaster University Hamilton Ontario Canada. Clinical Research Institute American University of Beirut Medical Center Beirut Lebanon. School of Psychology Faculty of Social Sciences University of Ottawa Ottawa Ontario Canada. Bruyère Research Institute Ottawa Ontario Canada. The Interdisciplinary School of Health Sciences University of Ottawa Ottawa Ontario Canada. Department of Pediatrics McMaster University Hamilton Ontario Canada. Biostatistics Unit Father Sean O'Sullivan Research Centre St Joseph's Healthcare Hamilton Ontario Canada. Centre for Development of Best Practices in Health (CDBPH) Yaoundé Central Hospital Yaoundé Cameroon. Department of Global Health Division of Epidemiology and Biostatistics Stellenbosch University Cape Town South Africa. Departments of Family Medicine Epidemiology and Biostatistics Western University London Ontario Canada. School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada. Population Health Sciences Bristol Medical School University of Bristol Bristol UK. Clinical Epidemiology Program Ottawa Hospital Research Institute Ottawa Ontario Canada. WHO Collaborating Centre for Knowledge Translation and Health Technology Assessment in Health Equity Bruyère Research Institute Ottawa Ontario Canada.

Introduction:health equity is a moral and ethical imperative for clinicians, researchers, policymakers, and all who use health research. Both Cochrane and the Campbell Collaboration have focused on health equity for many years. Methods:The new Equity Group will continue and expand this work by designing a program of projects aiming to (1) promote equity in the evidence base, (2) ensure equitable processes for stakeholder engagement, (3) produce high-priority, equity-focused evidence syntheses, (4) build capacity for equity design, analysis, and reporting, and (5) promote equity in implementation tools. Results:We will build on our current network of collaborators and create a group structure striving to recruit across the PROGRESS-Plus characteristics. Conclusion:We invite readers to join our cause and contribute wherever they are able. Together, we can help Cochrane achieve its social responsibility of improving health equity at a planetary level.

关键词： PROGRESS‐Plus diversity and inclusion evidence synthesis health equity social determinants of health stakeholder engagement systematic reviews

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THU636 Prevalence Of Metabolic Syndrome In A Sample Of Hispanic Patients With Polycystic Ovary Syndrome

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Journal of the Endocrine Society 2023年第SUPPLEMENT_1期7卷

作者： Isabel C Arroyo Loida Gonzalez-Rodriguez Beatriz Diaz Rios Yanni Rivera-Rodriguez Adriana Garcia-Irizarry Hilary Cabrera-Martinez Lorena Gonzalez-sepulveda Cynthia Perez-Cardona Josefina Romaguera Ricardo Azziz Endocrinology Diabetes and Metabolism Division Medicine Department-University of Puerto Rico School of Medicine San Juan PR USA University of Puerto Rico - Rio Piedras Campus San Juan PR USA MD Program – University of Puerto Rico School of Medicine San Juan PR USA Biostatistics Epidemiology and Research Design Core Hispanic Alliance for Clinical and Translational Research – University of Puerto Rico Medical Sciences Campus San Juan PR USA Department of Biostatistics and Epidemiology Graduate School of Public Health – University of Puerto Rico Medical Sciences Campus San Juan PR USA Department of Obstetrics and Gynecology – University of Puerto Rico School of Medicine San Juan PR USA Heersink School of Medicine University of Alabama at Birmingham Birmingham AL USA

Disclosure: I.C. Arroyo: None. L. Gonzalez-Rodriguez: None. B. Diaz Rios: None. Y. Rivera-Rodriguez: None. A. Garcia-Irizarry: None. H. Cabrera-Martinez: None. L. Gonzalez-sepulveda: None. C. Perez-Cardona: None. J. Romaguera: None. R. Azziz, MD, MBA, MPH: Advisory Board Member; Self; Arora Forge. Consulting Fee; Self; Rani Therapeutics, Spruce Biosciences, Fortress Biotech, Core Access Surgical Technologies. Grant Recipient; Self; Ferring Pharmaceuticals. Stock Owner; Self; Martin Imaging.

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Corrigendum to "Long-term impact of immediate versus deferred antiretroviral therapy on kidney health in people with HIV." Kidney International 2024;106:136-144

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Kidney international 2024年第6期106卷 1196页

作者： Annegret Pelchen-Matthews Amanda Mocroft Lene Ryom Michael J Ross Shweta Sharma Steven Coca Amit Achhra Elaine Cornell Russell Tracy Andrew Phillips Marta Montero Alonso Giota Toulomi Brian K Agan Nicholas Medland Christina M Wyatt Centre for Clinical Research Epidemiology Modelling and Evaluation (CREME) Institute for Global Health University College London London UK. Centre for Clinical Research Epidemiology Modelling and Evaluation (CREME) Institute for Global Health University College London London UK CHIP Rigshospitalet University of Copenhagen Copenhagen Denmark. CHIP Rigshospitalet University of Copenhagen Copenhagen Denmark Department of Infectious Diseases 144 Hvidovre University Hospital Copenhagen Denmark. Department of Medicine Division of Nephrology Albert Einstein College of Medicine Bronx New York USA. Division of Biostatistics School of Public Health University of Minnesota Minneapolis Minnesota USA. Department of Medicine Division of Nephrology Icahn School of Medicine at Mount Sinai New York New York USA. Department of Medicine Division of Infectious Diseases Yale School of Medicine New Haven Connecticut USA. Department of Pathology and Laboratory Medicine University of Vermont Burlington Vermont USA. Infectious Diseases Unit Hospital Universitario y Politécnico La Fe Valencia Spain. Department of Hygiene Epidemiology & Medical Statistics Medical School National and Kapodistrian University of Athens Athens Greece. Infectious Disease Clinical Research Program Department of Preventive Medicine and Biostatistics Uniformed Services University of the Health Sciences Bethesda Maryland USA The Henry M. Jackson Foundation for the Advancement of Military Medicine Inc. Bethesda Maryland USA. Kirby Institute University of New South Wales Sydney Australia. Department of Medicine Division of Nephrology Duke Clinical Research Institute Duke University School of Medicine Durham North Carolina USA. Electronic address: christina.wyatt@duke.edu.

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Global, regional, and national incidence of six major immune-mediated inflammatory diseases: findings from the global burden of disease study 2019

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eclinicalMedicine 2023年 64卷 102193-102193页

作者： Wu, Dongze Jin, Yingzhao Xing, Yuhan Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Mohsen Abbasi-Kangevari, Zeinab Abd-Allah, Foad Abdelmasseh, Michael Abdollahifar, Mohammad-Amin Abdulah, Deldar Morad Abedi, Aidin Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abuabara, Katrina Abyadeh, Morteza Addo, Isaac Yeboah Adeniji, Kayode Nelson Adepoju, Abiola Victor Adesina, Miracle Ayomikun Adnani, Qorinah Estiningtyas Sakilah Afarideh, Mohsen Aghamiri, Shahin Agodi, Antonella Agrawal, Anurag Arriagada, Constanza Elizabeth Aguilera Ahmad, Aqeel Ahmad, Danish Ahmad, Sohail Ahmadi, Ali Ahmed, Ayman Aithala, Janardhana P. Ajadi, Abdullateef Abiodun Ajami, Marjan Akbarzadeh-Khiavi, Mostafa Alahdab, Fares AlBataineh, Mohammad T. Alemi, Sharifullah Al-Gheethi, Adel Ali Saeed Ali, Liaqat Alif, Sheikh Mohammad Almazan, Joseph Uy Almustanyir, Sami Alqahtani, Jaber S. Alqasmi, Ibrahim Altaf, Ihsan Ullah Khan Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Al-Worafi, Yaser Mohammed Aly, Hany Amani, Reza Amu, Hubert Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Ansar, Adnan Ansariniya, Hossein Anyasodor, Anayochukwu Edward Arabloo, Jalal Arefnezhad, Reza Arulappan, Judie Asghari-Jafarabadi, Mohammad Ashraf, Tahira Atata, Jamila Abdulhamid Athari, Seyyed Shamsadin Atlaw, Daniel Atout, Maha Moh'd Wahbi Aujayeb, Avinash Awan, Asma Tahir Ayatollahi, Haleh Azadnajafabad, Sina Azzam, Ahmed Y. Badawi, Alaa Badiye, Ashish D. Bagherieh, Sara Baig, Atif Amin Bantie, Berihun Bantie Barchitta, Martina Bardhan, Mainak Barker-Collo, Suzanne Lyn Barone-Adesi, Francesco Batra, Kavita Bayileyegn, Nebiyou Simegnew Behnoush, Amir Hossein Belgaumi, Uzma Iqbal Bemanalizadeh, Maryam Bensenor, Isabela M. Beyene, Kebede A. Bhagavathula, Akshaya Srikanth Bhardwaj, Pankaj Bhaskar, Sonu Bhat, Ajay Nagesh Bitaraf, Saeid Bitra, Veera R. Boloor, Archith Bora, Kaustubh Botelho, João Silva Buchbinder, Rachelle Calina, Daniela Cámera, Luis Alberto Carvalho, Andre F. Chan, Jeffrey Shi Kai Chattu, Vijay Kumar Abebe, Endeshaw Chekol Department of Rheumatology and Immunology Sichuan Provincial People's Hospital School of Medicine University of Electronic Science and Technology of China China Department of Medicine & Therapeutics The Chinese University of Hong Kong Hong Kong Department of Paediatrics The Chinese University of Hong Kong Hong Kong School of Pharmacy The Chinese University of Hong Kong Hong Kong Jockey Club School of Public Health and Primary Care The Chinese University of Hong Kong Hong Kong Department of Nursing Woldia University Woldia Ethiopia Department of Orthopedic Surgery Harvard University Boston MA United States Postgraduate Medical Education Harvard University Boston MA United States Maternal Fetal Care Center Harvard University Boston MA United States Department of Health Policy and Oral Epidemiology Harvard University Boston MA United States Division of General Internal Medicine Harvard University Boston MA United States Department of Orthopaedic Surgery Shahid Beheshti University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Biotechnology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Epidemiology Shahid Beheshti University of Medical Sciences Tehran Iran National Nutrition and Food Technology Research Institute Shahid Beheshti University of Medical Sciences Tehran Iran Department of Immunology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Neurology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Medical Genetics Shahid Beheshti University of Medical Sciences Tehran Iran Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences Tehran Iran Cancer Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Health Economics and Statistics Shahid Beheshti University of Medical Sciences Tehran Iran Functional Neuro

Background: The causes for immune-mediated inflammatory diseases (IMIDs) are diverse and the incidence trends of IMIDs from specific causes are rarely studied. The study aims to investigate the pattern and trend of IMIDs from 1990 to 2019. Methods: We collected detailed information on six major causes of IMIDs, including asthma, inflammatory bowel disease, multiple sclerosis, rheumatoid arthritis, psoriasis, and atopic dermatitis, between 1990 and 2019, derived from the Global Burden of Disease study in 2019. The average annual percent change (AAPC) in number of incidents and age standardized incidence rate (ASR) on IMIDs, by sex, age, region, and causes, were calculated to quantify the temporal trends. Findings: In 2019, rheumatoid arthritis, atopic dermatitis, asthma, multiple sclerosis, psoriasis, inflammatory bowel disease accounted 1.59%, 36.17%, 54.71%, 0.09%, 6.84%, 0.60% of overall new IMIDs cases, respectively. The ASR of IMIDs showed substantial regional and global variation with the highest in High SDI region, High-income North America, and United States of America. Throughout human lifespan, the age distribution of incident cases from six IMIDs was quite different. Globally, incident cases of IMIDs increased with an AAPC of 0.68 and the ASR decreased with an AAPC of −0.34 from 1990 to 2019. The incident cases increased across six IMIDs, the ASR of rheumatoid arthritis increased (0.21, 95% CI 0.18, 0.25), while the ASR of asthma (AAPC = −0.41), inflammatory bowel disease (AAPC = −0.72), multiple sclerosis (AAPC = −0.26), psoriasis (AAPC = −0.77), and atopic dermatitis (AAPC = −0.15) decreased. The ASR of overall and six individual IMID increased with SDI at regional and global level. Countries with higher ASR in 1990 experienced a more rapid decrease in ASR. Interpretation: The incidence patterns of IMIDs varied considerably across the world. Innovative prevention and integrative management strategy are urgently needed to mitigate the increasing ASR of rh

关键词： Global burden of disease study Immune-mediated inflammatory disease Incidence Trend

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan Mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

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The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

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POS0206-HPR POSTPARTUM DEPRESSION AMONG REPRODUCTIVE-AGE WOMEN WITH AND WITHOUT RHEUMATIC DISEASE: A POPULATION-BASED MATCHED COHORT STUDY

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Annals of the Rheumatic Diseases 2023年 82卷 329-329页

作者： D. Shridharmurthy K. Lapane A. Nunes J. Baek M. Weisman J. Kay S.H. Liu UMass Chan Medical School Division of Epidemiology Department of Population and Quantitative Health Sciences Worcester United States of America UMass Chan Medical School Clinical and Population Health Research Program Graduate School of Biomedical Sciences Worcester United States of America UMass Chan Medical School Division of Biostatistics and Health Services Research Department of Population and Quantitative Health Sciences Worcester United States of America Stanford University Division of Immunology and Rheumatology School of Medicine Palo Alto United States of America UMass Chan Medical School Division of Rheumatology Department of Medicine Worcester United States of America UMass Memorial Medical Center - Memorial Campus Division of Rheumatology Worcester United States of America

Background Postpartum depression is a psychiatric illness that occurs after the birth of a child and affects 12.5% of women in the United States (1) and 17.2% of women globally [2]. Women of reproductive age with rheumatic diseases (RD) are at increased risk of clinical depression [3]. However, research examining postpartum depression in women with RD is scarce. Objectives We examined postpartum depression among women with axial spondyloarthritis (axSpA), rheumatoid arthritis (RA), or psoriatic arthritis (PsA) compared to a matched population without RD in the United States. Methods A retrospective analysis using data from the 2013-2018 IBM MarketScan Commercial Claims and Encounters Database was conducted. Pregnant women with axSpA, RA, or PsA were identified, and the date of delivery was used as the index date. We restricted the sample to women ≤ 55 years with continuous enrollment ≥ 6 months before date of last menstrual period and throughout pregnancy (baseline period). Each patient was matched with four individuals without RD on: 1) maternal age at delivery; 2) prior history of depression; and 2) duration of depression before delivery. The outcome of interest was a diagnosis of depression within one year of the index date. Cox frailty proportional hazards models adjusting for sociodemographic and clinical characteristics in the baseline period were used to estimate the crude and adjusted hazard ratios and 95% confidence interval (CI) of incident postpartum depression among women with axSpA, RA, or PsA (axSpA/RA/PsA group) compared to the matched non-RD comparison group. Results Overall, 2,667 women with axSpA, RA, or PsA and 10,668 patients without any RD were included. The average age at baseline was 33 years (SD: 5.0), and nearly two in five women were older than 35 years. The median follow-up time in days was 256 (Interquartile range (IQR): 553) and 265 (IQR: 564) for the axSpA/RA/PsA and matched non-RD comparison groups. Development of postpartum depression

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I’am hiQ – A Novel Accuracy Index for Imputed Genotypes

Research Square

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research Square 2021年

作者： Rosenberger, Albert Tozzi, Viola Hung, Rayjean J. Christiani, David C. Caporaso, Neil E. Liu, Geoffrey Bojesen, Stig E. Le Marchand, Loic Albanes, Demetrios Aldrich, Melinda C. Tardon, Adonina Fernández-Tardón, Guillermo Rennert, Gad Field, John K. Davies, Mike Liloglou, Triantafillos Kiemeney, Lambertus A. Lazarus, Philip Haugen, Aage Zienolddiny, Shanbeh Lam, Stephen Schabath, Matthew B. Andrew, Angeline S. Duell, Eric J. Arnold, Susanne M. Brunnsstöm, Hans Melander, Olle Goodman, Gary E. Chen, Chu Doherty, Jennifer A. Teare, Marion Dawn Cox, Angela Woll, Penella J. Risch, Angela Muley, Thomas R. Johansson, Mikael Brennan, Paul Landi, Maria Teresa Shete, Sanjay S. Amos, Christopher I. Bickeböller, Heike Department of Genetic Epidemiology University Medical Center Georg-August-University Göttingen Göttingen Germany Lunenfeld-Tanenbaum Research Institute Sinai Health System University of Toronto TorontoON Canada Department of Environmental Health Harvard T.H. Chan School of Public Health Massachusetts General Hospital Harvard Medical School BostonMA United States Division of Cancer Epidemiology and Genetics National Cancer Institute US National Institutes of Health BethesdaMD United States Medical Oncology and Medical Biophysics Princess Margaret Cancer Centre TorontoON Canada Medicine and Epidemiology Dalla Lana School of Public Health University of Toronto TorontoON Canada Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Copenhagen Denmark Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen Denmark Epidemiology Program University of Hawaii Cancer Center HonoluluHI United States Department of Thoracic Surgery Division of Epidemiology Vanderbilt University Medical Center NashvilleTN United States University of Oviedo ISPA and CIBERESP Faculty of Medicine Oviedo Spain Clalit National Cancer Control Center at Carmel Medical Center Technion Faculty of Medicine Haifa Israel Roy Castle Lung Cancer Research Programme The University of Liverpool Department of Molecular and Clinical Cancer Medicine Liverpool United Kingdom Departments of Health Evidence and Urology Radboud University Medical Center Nijmegen Netherlands Department of Pharmaceutical Sciences College of Pharmacy Washington State University SpokaneWA United States National Institute of Occupational Health Oslo Norway British Columbia Cancer Agency VancouverBC Canada Department of Cancer Epidemiology H. Lee Moffitt Cancer Center and Research Institute TampaFL United States Department of Epidemiology Geisel School of Medicine Dartmou

Background: Imputation of untyped markers is a standard tool in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However, high accuracy with which genotypes are imputed is fundamental. Several accuracy measures have been proposed and some are implemented in imputation software, unfortunately diversely across platforms. In the present paper we introduce I’am hiQ, an independent pair of accuracy measures that can be applied to dosage files, the output of all imputation software. I’am (imputation accuracy measure) quantifies the average amount of individual-specific versus population-specific genotype information in a linear manner. hiQ (heterogeneity in quantities of dosages) addresses the inter-individual heterogeneity between dosages of a marker across the sample at hand. Results: Applying both measures to a large case-control sample of the International Lung Cancer Consortium (ILCCO), comprising 27,065 individuals, we found meaningful thresholds for I’am and hiQ suitable to classify markers of poor accuracy. We demonstrate how Manhattan-like plots and moving averages of I’am and hiQ can be useful to identify regions enriched with less accurate imputed markers, whereas these regions would by missed when applying the accuracy measure info (implemented in IMPUTE2). Conclusion: We recommend using I’am hiQ additional to other accuracy scores for variant filtering before stepping into the analysis of imputed GWAS data. © 2021, CC BY.

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