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Correction to: Indications for fertility preservation not included in the 2017 Japan Society of Clinical Oncology Guideline for Fertility Preservation in Pediatric, Adolescent, and Young Adult Patients treated with gonadal toxicity, including benign diseases

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International journal of clinical oncology 2022年第4期27卷 825-826页

作者： Masanori Ono Kimikazu Matsumoto Narikazu Boku Nobuharu Fujii Yumi Tsuchida Tatsuro Furui Miyuki Harada Yoshinobu Kanda Akira Kawai Mitsuru Miyachi Atsuko Murashima Robert Nakayama Hiroyuki Nishiyama Chikako Shimizu Kazuhiko Sugiyama Yasushi Takai Keishi Fujio Ken-Ichirou Morishige Yutaka Osuga Nao Suzuki Department of Obstetrics and Gynecology Tokyo Medical University 6-7-1 Nishi-Shinjuku Shinjuku-ku Tokyo 160-0023 Japan. masanori@tokyo-med.ac.jp. Children's Cancer Center National Center for Child Health and Development 2-10-1 Okura Setagaya-ku Tokyo 157-8535 Japan. Division of Gastrointestinal Medical Oncology National Cancer Center Hospital 5-1-1 Tsukiji Chuo-ku Tokyo 104-0045 Japan. Division of Blood Transfusion Okayama University Hospital 2-5-1 Shikata-cho Kita-ku Okayama-shi Okayama 700-8558 Japan. Department of Allergy and Rheumatology Graduate School of Medicine The University of Tokyo 7-3-1 Hongo Bunkyo-ku Tokyo 113-0033 Japan. Department of Obstetrics and Gynecology Gifu University Graduate School of Medicine 1-1 Yanagido Gifu-shi Gifu 501-1194 Japan. Department of Obstetrics and Gynecology Graduate School of Medicine The University of Tokyo 7-3-1 Hongo Bunkyo-ku Tokyo 113-0033 Japan. Division of Hematology Department of Medicine Jichi Medical University 3311-1 Yakushiji Shimotsuke-shi Tochigi 329-0498 Japan. Department of Musculoskeletal Oncology and Rehabilitation Medicine National Cancer Center Hospital 5-1-1 Tsukiji Chuo-ku Tokyo 104-0045 Japan. Department of Pediatrics Kyoto Prefectural University of Medicine 465 Kajii-cho Kawaramachi-Hirokoji Kamigyo-ku Kyoto-shi Kyoto 602-8566 Japan. Division of Maternal Medicine Center for Maternal-Fetal Neonatal and Reproductive Medicine National Center for Child Health and Development 2-10-1 Okura Setagaya-ku Tokyo 157-8535 Japan. Department of Orthopedic Surgery Keio University School of Medicine 35 Shinanomachi Shinjuku-ku Tokyo 160-8582 Japan. Department of Urology Faculty of Medicine and Graduate School of Comprehensive Human Science University of Tsukuba 1-1-1 Tennodai Tsukuba-shi Ibaraki 305-8577 Japan. Department of Oncology National Center for Global Health and Medicine Hospital 1-21-1 Toyama Shinjuku-ku Tokyo 162-8655 Japan. Department of Clinical Oncology and

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Publisher Correction: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

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Nature genetics 2024年第10期56卷 2281页

作者： Qingbo S Wang Takanori Hasegawa Ho Namkoong Ryunosuke Saiki Ryuya Edahiro Kyuto Sonehara Hiromu Tanaka Shuhei Azekawa Shotaro Chubachi Yugo Takahashi Saori Sakaue Shinichi Namba Kenichi Yamamoto Yuichi Shiraishi Kenichi Chiba Hiroko Tanaka Hideki Makishima Yasuhito Nannya Zicong Zhang Rika Tsujikawa Ryuji Koike Tomomi Takano Makoto Ishii Akinori Kimura Fumitaka Inoue Takanori Kanai Koichi Fukunaga Seishi Ogawa Seiya Imoto Satoru Miyano Yukinori Okada Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. qingbow@m.u-tokyo.ac.jp. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. qingbow@m.u-tokyo.ac.jp. M&D Data Science Center Tokyo Medical and Dental University Tokyo Japan. Department of Infectious Diseases Keio University School of Medicine Tokyo Japan. hounamugun@keio.jp. Department of Pathology and Tumor Biology Kyoto University Kyoto Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Department of Respiratory Medicine and Clinical Immunology Osaka University Graduate School of Medicine Suita Japan. Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. Division of Pulmonary Medicine Department of Medicine Keio University School of Medicine Tokyo Japan. Faculty of Medicine Osaka University Suita Japan. Center for Data Sciences Brigham and Women's Hospital Harvard Medical School Boston MA USA. Divisions of Genetics and Rheumatology Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA. Laboratory of Children's Health and Genetics Division of Health Science Osaka University Graduate School of Medicine Suita Japan. Department of Pediatrics Osaka University Graduate School of Medicine Suita Japan. Division of Genome Analysis Platform Development National Cancer Center Research Institute Tokyo Japan. Institute for the Advanced Study of Human Biology (WPI-ASHBi) Kyoto University Kyoto Japan. Health Science Research and Development Center (HeRD) Tokyo Medical and Dental University Tokyo Japan. Laboratory of Veterinary Infectious Disease Department of Veterinary Medicine Kitasato University Tokyo Japan. Department of Respiratory Medicine Nagoya University Graduate School of Medicine Nagoya Japan. In

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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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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (vol 53, pg 65, 2021)

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NATURE GENETICS 2021年第3期53卷 413-413页

作者： Conti, David V. Darst, Burcu F. Moss, Lilit C. Saunders, Edward J. Sheng, Xin Chou, Alisha Schumacher, Fredrick R. Al Olama, Ali Amin Benlloch, Sara Dadaev, Tokhir Brook, Mark N. Sahimi, Ali Hoffmann, Thomas J. Takahashi, Atushi Matsuda, Koichi Momozawa, Yukihide Fujita, Masashi Muir, Kenneth Lophatananon, Artitaya Wan, Peggy Le Marchand, Loic Wilkens, Lynne R. Stevens, Victoria L. Gapstur, Susan M. Carter, Brian D. Schleutker, Johanna Tammela, Teuvo L. J. Sipeky, Csilla Auvinen, Anssi Giles, Graham G. Southey, Melissa C. MacInnis, Robert J. Cybulski, Cezary Wokolorczyk, Dominika Lubinski, Jan Neal, David E. Donovan, Jenny L. Hamdy, Freddie C. Martin, Richard M. Nordestgaard, Borge G. Nielsen, Sune F. Weischer, Maren Bojesen, Stig E. Roder, Martin Andreas Iversen, Peter Batra, Jyotsna Chambers, Suzanne Moya, Leire Horvath, Lisa Clements, Judith A. Tilley, Wayne Risbridger, Gail P. Gronberg, Henrik Aly, Markus Szulkin, Robert Eklund, Martin Nordstrom, Tobias Pashayan, Nora Dunning, Alison M. Ghoussaini, Maya Travis, Ruth C. Key, Tim J. Riboli, Elio Park, Jong Y. Sellers, Thomas A. Lin, Hui-Yi Albanes, Demetrius Weinstein, Stephanie J. Mucci, Lorelei A. Giovannucci, Edward Lindstrom, Sara Kraft, Peter Hunter, David J. Penney, Kathryn L. Turman, Constance Tangen, Catherine M. Goodman, Phyllis J. Thompson, Ian M., Jr. Hamilton, Robert J. Fleshner, Neil E. Finelli, Antonio Parent, Marie-Elise Stanford, Janet L. Ostrander, Elaine A. Geybels, Milan S. Koutros, Stella Freeman, Laura E. Beane Stampfer, Meir Wolk, Alicja Hakansson, Niclas Andriole, Gerald L. Hoover, Robert N. Machiela, Mitchell J. Sorensen, Karina Dalsgaard Borre, Michael Blot, William J. Zheng, Wei Yeboah, Edward D. Mensah, James E. Lu, Yong-Jie Zhang, Hong-Wei Feng, Ninghan Mao, Xueying Wu, Yudong Zhao, Shan-Chao Sun, Zan Thibodeau, Stephen N. McDonnell, Shannon K. Schaid, Daniel J. West, Catharine M. L. Burnet, Neil Barnett, Gill Maier, Christiane Schnoeller, Thomas Luedeke, Manuel Kibel, Adam S. Drake, Bettina F. Cussenot, Olivier Cancel-Tassin, Gerald Center for Genetic Epidemiology Department of Preventive Medicine Keck School of Medicine University of Southern California/Norris Comprehensive Cancer Center Los Angeles CA USA The Institute of Cancer Research London UK Department of Population and Quantitative Health Sciences Case Western Reserve University Cleveland OH USA Seidman Cancer Center University Hospitals Cleveland OH USA Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Strangeways Research Laboratory Cambridge UK Stroke Research Group Department of Clinical Neurosciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics University of California San Francisco CA USA Institute for Human Genetics University of California San Francisco CA USA Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan Department of Genomic Medicine National Cerebral and Cardiovascular Center Research Institute Suita Japan Laboratory of Clinical Genome Sequencing Department of Computational Biology and Medical Sciences Graduate School of Frontier Sciences The University of Tokyo Tokyo Japan Biobank Tokyo Japan Laboratory for Genotyping Development RIKEN Center of Integrative Medical Sciences Yokohama Japan Laboratory for Cancer Genomics RIKEN Center of Integrative Medical Sciences Yokohama Japan Division of Population Health Health Services Research and Primary Care School of Health Sciences Faculty of Biology Medicine and Health University of Manchester Manchester UK Warwick Medical School University of Warwick Coventry UK Epidemiology Program University of Hawaii Cancer Center Honolulu HI USA Behavioral and Epidemiology Research Group Research Program American Cancer Society Atlanta GA USA Institute of Biomedicine University of Turku Turku Finland Department of Medical Genetics Genomics Laboratory Division Turku University Hospital Turku Finland Department of Urolog

Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction.

关键词： Epidemiology Genome-wide association studies Personalized medicine Prostate cancer

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024)

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AMERICAN JOURNAL OF human GENETICS 2024年第4期11卷 805-805页

作者： Paul, Maimuna S. Michener, Sydney L. Pan, Hongling Chan, Hiuling Pfliger, Jessica M. Rosenfeld, Jill A. Lerma, Vanesa C. Tran, Alyssa Longley, Megan A. Lewis, Richard A. Weisz-Hubshman, Monika Bekheirnia, Mir Reza Bekheirnia, Nasim Massingham, Lauren Zech, Michael Wagner, Matias Engels, Hartmut Cremer, Kirsten Mangold, Elisabeth Peters, Sophia Trautmann, Jessica Perne, Claudia Mester, Jessica L. Sacoto, Maria J. Guillen Person, Richard McDonnell, Pamela P. Cohen, Stacey R. Lusk, Laina Cohen, Ana S. A. Le Pichon, Jean-Baptiste Pastinen, Tomi Zhou, Dihong Engleman, Kendra Racine, Caroline Faivre, Laurence Moutton, Sebastien Denomme-Pichon, Anne-Sophie Koh, Hyun Yong Poduri, Annapurna Bolton, Jeffrey Knopp, Cordula Suh, Dong Sun Julia Maier, Andrea Toosi, Mehran Beiraghi Karimiani, Ehsan Ghayoor Maroofian, Reza Schaefer, Gerald Bradley Ramakumaran, Vijayalakshmi Vasudevan, Pradeep Banos-Pinero, Benito Pagnamenta, Alistair T. Prasad, Chitra Osmond, Matthew Schuhmann, Sarah Vasileiou, Georgia Russ-Hall, Sophie Scheffer, Ingrid E. Carvill, Gemma L. Mefford, Heather Bacino, Carlos A. Lee, Brendan H. Chao, Hsiao-Tuan Department of Pediatrics Section of Neurology and Developmental Neuroscience Baylor College of Medicine Houston TX USA Jan and Dan Duncan Neurological Research Institute Texas Children’s Hospital Houston TX USA Cain Pediatric Neurology Research Foundation Laboratories Jan and Dan Duncan Neurological Research Institute Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Augustana College Rock Island IL USA Summer Undergraduate Research Training (SMART) Program Baylor College of Medicine Houston TX USA Graduate Program in Electrical and Computer Engineering Rice University Houston TX USA Department of Psychology University of Houston Houston TX USA Department of Ophthalmology Baylor College of Medicine Houston TX USA Renal Genetics Clinic Baylor College of Medicine Houston TX USA Rhode Island Hospital and Hasbro Children’s Hospital Providence RI USA Institute of Neurogenomics Helmholtz Zentrum München Munich Germany Institute of Human Genetics School of Medicine Technical University Munich Germany Institute for Advanced Study Technical University of Munich Garching Germany Division of Pediatric Neurology Developmental Neurology and Social Pediatrics Dr. von Hauner Children’s Hospital Munich Germany Institute of Human Genetics School of Medicine University Hospital Bonn University of Bonn Bonn Germany GeneDx Gaithersburg MD USA Epilepsy NeuroGenetics Initiative (ENGIN) Division of Neurology Children’s Hospital of Philadelphia Philadelphia PA USA Department of Neurology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Children’s Mercy Kansas City Genomic Medicine Center The University of Missouri-Kansas City (UMKC) School of Medicine Kansas City MO USA Department of Pediatrics Children’s Mercy Kansas City Kansas City MO USA Children’s Mercy Research Institute Kansas City MO USA Children’s Mercy Hospital Kansas City MO USA University Hospital Dijon Franc

PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly. The protein structure and function are evolutionarily well conserved, but human diseases related to PPFIA3 dysfunction are not yet reported in OMIM. Here, we report 20 individuals with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy with reduced penetrance. Seventeen unique PPFIA3 variants were detected in 18 families. To determine the pathogenicity of PPFIA3 variants in vivo, we generated transgenic fruit flies producing either human wild-type (WT) PPFIA3 or five missense variants using GAL4-UAS targeted gene expression systems. In the fly overexpression assays, we found that the PPFIA3 variants in the region encoding the N-terminal coiled-coil domain exhibited stronger phenotypes compared to those affecting the C-terminal region. In the loss-of-function fly assay, we show that the homozygous loss of fly Liprin-α leads to embryonic lethality. This lethality is partially rescued by the expression of human PPFIA3 WT, suggesting human PPFIA3 function is partially conserved in the fly. However, two of the tested variants failed to rescue the lethality at the larval stage and one variant failed to rescue lethality at the adult stage. Altogether, the human and fruit fly data reveal that the rare PPFIA3 variants are dominant-negative loss-of-function alleles that perturb multiple developmental processes and synapse formation.

关键词： neurodevelopmental disorder synaptic protein active zone protein Mendelian phenotypes fruit flies

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Mapping geographical inequalities in childhood diarrhoeal morbidity and mortality in low-income and middle-income countries, 2000-17: analysis for the Global Burden of Disease Study 2017 (vol 395, pg 1779, 2020)

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LANCET 2020年第10239期395卷 1762-1762页

作者： Reiner, R. C., Jr. Hay, S., I Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Global Health School of Medicine University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States College of Health and Medical Sciences Haramaya University Harar Ethiopia Department of Epidemiology and Biostatistics Haramaya University Harar Ethiopia Department of Medical Laboratory Sciences Haramaya University Harar Ethiopia School of Nursing and Midwifery Haramaya University Harar Ethiopia School of Pharmacy Haramaya University Harar Ethiopia School of Public Health Haramaya University Harar Ethiopia Haramaya University Harar Ethiopia Advanced Diagnostic and Interventional Radiology Research Center Tehran University of Medical Sciences Tehran Iran Cancer Biology Research Center Tehran University of Medical Sciences Tehran Iran Cancer Research Institute Tehran University of Medical Sciences Tehran Iran Department of Economics and Management Sciences for Health Tehran University of Medical Sciences Tehran Iran Department of Environmental Health Engineering Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Department of Health Management and Economics Tehran University of Medical Sciences Tehran Iran Department of Microbiology Tehran University of Medical Sciences Tehran Iran Department of Pharmacology Tehran University of Medical Sciences Tehran Iran Digestive Diseases Research Institute Tehran University of Medical Sciences Tehran Iran Endocrinology and Metabolism Research Center Tehran University of Medical Sciences Tehran Iran Hematology-Oncology and Stem Cell Transplantation Research Center Tehran University of Medical Sciences Tehran Iran Iran National Institute of Health Research Tehran University of Medical Sciences Tehran Iran Metabolomics and

Summary Background Across low-income and middle-income countries (LMICs), one in ten deaths in children younger than 5 years is attributable to diarrhoea. The substantial between-country variation in both diarrhoea incidence and mortality is attributable to interventions that protect children, prevent infection, and treat disease. Identifying subnational regions with the highest burden and mapping associated risk factors can aid in reducing preventable childhood *** We used Bayesian model-based geostatistics and a geolocated dataset comprising 15 072 746 children younger than 5 years from 466 surveys in 94 LMICs, in combination with findings of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017, to estimate posterior distributions of diarrhoea prevalence, incidence, and mortality from 2000 to 2017. From these data, we estimated the burden of diarrhoea at varying subnational levels (termed units) by spatially aggregating draws, and we investigated the drivers of subnational patterns by creating aggregated risk factor *** The greatest declines in diarrhoeal mortality were seen in south and southeast Asia and South America, where 54·0% (95% uncertainty interval [UI] 38·1-65·8), 17·4% (7·7-28·4), and 59·5% (34·2-86·9) of units, respectively, recorded decreases in deaths from diarrhoea greater than 10%. Although children in much of Africa remain at high risk of death due to diarrhoea, regions with the most deaths were outside Africa, with the highest mortality units located in Pakistan. Indonesia showed the greatest within-country geographical inequality; some regions had mortality rates nearly four times the average country rate. Reductions in mortality were correlated to improvements in water, sanitation, and hygiene (WASH) or reductions in child growth failure (CGF). Similarly, most high-risk areas had poor WASH, high CGF, or low oral rehydration therapy *** By co-analysing geospatial trends in d

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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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Stroke genetics informs drug discovery and risk prediction across ancestries (vol 611, pg 115, 2022)

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NATURE 2022年第7938期612卷 E7-E7页

作者： Mishra, Aniket Malik, Rainer Hachiya, Tsuyoshi Jurgenson, Tuuli Namba, Shinichi Posner, Daniel C. Kamanu, Frederick K. Koido, Masaru Le Grand, Quentin Shi, Mingyang He, Yunye Georgakis, Marios K. Caro, Ilana Krebs, Kristi Liaw, Yi-Ching Vaura, Felix C. Lin, Kuang Winsvold, Bendik Slagsvold Srinivasasainagendra, Vinodh Parodi, Livia Bae, Hee-Joon Chauhan, Ganesh Chong, Michael R. Tomppo, Liisa Akinyemi, Rufus Roshchupkin, Gennady V. Habib, Naomi Jee, Yon Ho Thomassen, Jesper Qvist Abedi, Vida Carcel-Marquez, Jara Nygaard, Marianne Leonard, Hampton L. Yang, Chaojie Yonova-Doing, Ekaterina Knol, Maria J. Lewis, Adam J. Judy, Renae L. Ago, Tetsuro Amouyel, Philippe Armstrong, Nicole D. Bakker, Mark K. Bartz, Traci M. Bennett, David A. Bis, Joshua C. Bordes, Constance Borte, Sigrid Cain, Anael Ridker, Paul M. Cho, Kelly Chen, Zhengming Cruchaga, Carlos Cole, John W. de Jager, Phil L. de Cid, Rafael Endres, Matthias Ferreira, Leslie E. Geerlings, Mirjam I. Gasca, Natalie C. Gudnason, Vilmundur Hata, Jun He, Jing Heath, Alicia K. Ho, Yuk-Lam Havulinna, Aki S. Hopewell, Jemma C. Hyacinth, I. Hyacinth Inouye, Michael Jacob, Mina A. Jeon, Christina E. Jern, Christina Kamouchi, Masahiro Keene, Keith L. Kitazono, Takanari Kittner, Steven J. Konuma, Takahiro Kumar, Amit Lacaze, Paul Launer, Lenore J. Lee, Keon-Joo Lepik, Kaido Li, Jiang Li, Liming Manichaikul, Ani Markus, Hugh S. Marston, Nicholas A. Meitinger, Thomas Mitchell, Braxton D. Montellano, Felipe A. Morisaki, Takayuki Mosley, Thomas H. Nalls, Mike A. Nordestgaard, Borge G. O'Donnell, Martin J. Okada, Yukinori Onland-Moret, N. Charlotte Ovbiagele, Bruce Peters, Annette Psaty, Bruce M. Rich, Stephen S. Rosand, Jonathan Sabatine, Marc S. Sacco, Ralph L. Saleheen, Danish Sandset, Else Charlotte Salomaa, Veikko Sargurupremraj, Muralidharan Sasaki, Makoto Satizabal, Claudia L. Schmidt, Carsten O. Shimizu, Atsushi Smith, Nicholas L. Sloane, Kelly L. Sutoh, Yoichi Sun, Yan V. Tanno, Kozo Tiedt, Steffen Tatlisumak, Turgut Torres-Aguila, Nuria P. Tiwari, Hemant K. Tregouet, Bordeaux Population Health Research Center University of Bordeaux Inserm UMR 1219 Bordeaux France Department of Public Health Bordeaux University Hospital Bordeaux France Department of Neurology Memory Clinic Bordeaux University Hospital Bordeaux France Department of Neurology Institute for Neurodegenerative Diseases CHU de Bordeaux Bordeaux France Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of Harvard and the Massachusetts Institute of Technology Cambridge MA USA Munich Cluster for Systems Neurology Munich Germany German Center for Neurodegenerative Diseases (DZNE) Munich Germany Iwate Tohoku Medical Megabank Organization Iwate Medical University Iwate Japan Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Institute of Mathematics and Statistics University of Tartu Tartu Estonia Department of Computational Biology University of Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland University Center for Primary Care and Public Health Lausanne Switzerland Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan Department of Genome Informatics Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan Integrated Frontier Research for Medical Science Division Institute for Open and Transdisciplinary Research Initiatives Osaka University Suita Japan Center for Infectious Disease Education and Research (CiDER) Osaka University Suita Japan Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA TIMI S

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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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The molecular basis of music-induced neuroplasticity in humans: a systematic review

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Neuroscience and biobehavioral reviews 2025年 175卷 106219页

作者： U Kirthana Kunikullaya PranjicMarija Pranjić Alison Rigby Pallas-FerrerIrene Pallás-Ferrer Harshini Anand Radhika Kunnavil Artur C Jaschke Department of Medicine (Huddinge) Karolinska Institutet ME Endokrinologi Karolinska University Hospital Huddinge Huddinge Sweden. Electronic address: kirthana.rguhs@***. Division of Developmental Medicine Boston Children's Hospital Harvard Medical School Boston MA United States. Electronic address: marija.pranjic@childrens.harvard.edu. Neurosciences Graduate Program University of California San Diego School of Medicine La Jolla CA United States Center for Human Development University of California San Diego La Jolla CA United States Center for Multimodal Imaging and Genetics University of California San Diego School of Medicine La Jolla CA United States. Electronic address: arigby@health.ucsd.edu. Department of Psychiatry University of Cambridge UK. Electronic address: ip417@medschl.cam.ac.uk. National Institute of Advanced Studies Indian Institute of Science Campus Bengaluru - 560 012 India. Electronic address: harshini.neuro@***. National Institute of Unani Medicine (Under Ministry of AYUSH Govt. of India) Bangalore 560091. Electronic address: radhik121@***. Department of Psychiatry University of Cambridge UK ArtEZ University of the Arts Enschede University Medical Centre Groningen and University of Cambridge. Electronic address: A.jaschke@artez.nl.

Neuroscientific research on music-based activities has grown rapidly, shedding light on the health benefits of music across various domains. However, the molecular mechanisms by which music influences neuroplasticity in humans remain largely unexplored. This review aimed to synthesize and critically appraise existing research on molecular neuroplasticity in humans, with a specific focus on the effects of receptive and active music-based interventions (MBIs) and musical training. Following the PRISMA guidelines, a systematic search was conducted across four databases (MEDLINE, Embase, PsycINFO, and Scopus), for articles published between 2000 and December 2023. From an initial return of 3239 records, 15 studies met the inclusion criteria and were synthesized into three categories of music experiences: (1) receptive MBIs, (2) active MBIs, and (3) musical training. Both active and receptive MBIs were found to enhance neuroplasticity. Specifically, music listening was associated with relaxation and improved immune function, marked by the upregulation of genes related to neuroprotection and synaptic plasticity, while active MBIs consistently enhanced peripheral neurotrophic factors in both healthy and patient populations. Among musicians, neurogenetic alterations linked to music perception and production, neurogenesis, and neurotransmission were identified, with multiple studies highlighting the roles of BDNF, SNCA, and GATA2 genes. Collectively, both MBIs and musical training induce neuroplastic changes by modulating neurogenetics, enhancing neurotrophins, altering hormonal levels, and reducing stress in humans. These findings highlight the need for further research to elucidate the molecular mechanisms underlying music's effects on the human brain, which could have implications for advancing therapeutic interventions for neuropsychological disorders.

关键词： molecular plasticity music music therapy music-based intervention neuroplasticity

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