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Randomised recruitment in estimating genital human papillomavirus prevalence - Authors' reply

The Lancet. Global health 2024年第1期12卷 e31页

作者： Laia Bruni Ginesa Albero Jane Rowley Melanie Taylor Nathalie Broutet Cancer Epidemiology Research Program Catalan Institute of Oncology-IDIBELL L'Hospitalet de Llobregat Barcelona 08908 Spain Centro de Investigación Biomédica en Red: Epidemiología y Salud Pública (CIBERESP CB06/02/0073) Madrid Spain. Electronic address: lbruni@***. Centro de Investigación Biomédica en Red: Epidemiología y Salud Pública (CIBERESP CB06/02/0073) Madrid Spain. Department of Global HIV Hepatitis and Sexually Transmitted Infections Programmes World Health Organization Geneva Switzerland. Department of Global HIV Hepatitis and Sexually Transmitted Infections Programmes World Health Organization Geneva Switzerland Division of STD Prevention Centers for Disease Control and Prevention Atlanta GA USA. Department of Sexual and Reproductive Health and Research World Health Organization Geneva Switzerland.

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Potential complications of monkeypox

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The Lancet. Neurology 2022年第10期21卷 872页

作者： B Jeanne Billioux Oliver Tshiani Mbaya James Sejvar Avindra Nath National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda MA 20892 USA. Institut National de Recherche Biomédicale Kinshasa Democratic Republic of Congo Clinical Monitoring Research Program Directorate Frederick National Laboratory for Cancer Research Frederick MD USA. National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda MA 20892 USA Centers for Disease Control and Prevention Atlanta GA USA. Electronic address: avindra.nath@nih.gov.

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Highly processed foods intake is positively associated with pro-inflammatory potential of diet: cross-sectional analysis from the Moli-sani Study

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Nutrition, Metabolism and Cardiovascular Diseases 2021年第11期31卷 3253-3253页

作者： C. Mignogna S. Costanzo E. Ruggiero N. Shivappa J.R. Hebert S. Esposito A. Di Castelnuovo M. Persichillo C. Cerletti M.B. Donati G. De Gaetano L. Iacoviello M. Bonaccio Dep. Medicine and Surgery Research Center in Epidemiology and Preventive Medicine EPIMED University of Insubria Varese Italy Dep. Epidemiology and Prevention IRCCS NEUROMED Pozzilli Italy Cancer Prevention and Control Program Dep. Epidemiology and Biostatistics Arnold School of Public Health University of South Carolina Columbia US Dep. Nutrition Connecting Health Innovations LLC Columbia US Mediterranea Cardiocentro Napoli Italy

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A Practice Change to Eliminate Prophylactic Antibiotics for Elective Percutaneous Nephrostomy Tube Exchanges in Low-Risk Outpatients: A Retrospective Review on Risk for Infection

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Journal of Radiology Nursing 2019年第4期38卷 241-249页

作者： Brick, Jamie Michele Dail, Robin B. Priode, Kimberly Wirth, Michael Yamada, Ricardo University of South Carolina College of Nursing Columbia SC United States Associate Dean for Faculty Affairs and Professor University of South Carolina College of Nursing Columbia SC United States Clinical Assistant Professor University of South Carolina College of Nursing Columbia SC United States Research Assistant Professor College of Nursing and Department of Epidemiology and Biostatistics Cancer Prevention and Control Program University of South Carolina Columbia SC United States Assistant Professor Vascular and Interventional Radiology Medical University of South Carolina Charleston SC United States

The purpose of this project was to determine if evidence-based practice change related to antibiotic administration criteria for outpatients receiving percutaneous nephrostomy tube exchanges implemented by a medical center's Vascular and Interventional Radiology department impacted hospital admission rates for infection in these patients. The 2017 practice change was based on 2010 guidelines from the Society of Interventional Radiology (SIR), stating that outpatients with a low risk of acquiring infection did not need to receive a perioperative antibiotic, as evidence has shown prophylactic therapy has no significant effect on infection rates for this population. Using a retrospective review design, 1 year of data before and after the practice change were collected and analyzed using the repeated measures generalized estimating equation (GEE) model with a binomial output by Liang & Zeger. Fisher's exact test was used to evaluate demographic variables by level of risk of infection. Data included 493 procedural events for 126 outpatients. The mean number of events per patient was 3.91 (SD: 4.15;median: 2;interquartile range: 3). Admission and infection criteria within thirty days of the event and infection risk factors were collected for each patient. Age, sex, and race were the variables that had a significant relationship with risk level of infection. Due to sample size, the GEE model could not be run using risk level (high/low) to predict admissions before or after the practice change. The relationship between the number of risk factors (0-5) and the odds of admission for infection was the same regardless of the practice change (before: odds ratio [OR] = 2.17, 95% confidence interval [CI] = 1.19-3.95;after: OR = 1.9, 95% CI = 1.12-3.22, p_interaction =. 67). For every increase in a patient's number of risk factors, the odds of developing an infection would be expected to increase by almost 90% (OR = 1.9, 95% CI = 1.27-2.84). Although it was not possible t

关键词： Antibiotic stewardship Infection Interventional radiology Percutaneous nephrostomy Practice change

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Sex-Specific Effects of Prenatal Exposure to Endocrine Disrupting Chemicals on Adverse Birth Outcomes: Results from the Korean Children's Environmental Health Study (Ko-Chens)

SSRN

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SSRN 2025年

作者： Oh, Jongmin Shah, Surabhi Lee, Kyung A. Park, Eunkyo Lee, Dong-Wook Hong, Yun-Chul Song, Sanghwan Kim, Sung Yeon Park, Huibyeol Ha, Eunhee Kim, Suejin Park, Choonghee Song, Sanghwan Lee, Jueun Park, Huibyeol Jo, JungHeum Jung, A-Ra Yu, Seung Do Kim, Hyun Jeong Jung, Soon-Won Hong, Sooyeon Seo, Heung Won Hwang, Namkyoung Kang, Tack Shin Jeong, Dong Jin Lee, Seungjune Kim, Hwan-Cheol Jeong, Kyoung Sook Kim, Byungmi Lee, Seulbi Kim, Hyesook Kook, Hoon Baek, Hee Jo Moon, Jai Dong Park, Won Ju Shin, Myung-Geun Ha, Mina Paik, Ki-Chung Kwon, Ho-Jang Lim, Myung-Ho Yoo, Seung Jin Bae, Sanghyuk Kim, Jin Kyung Bae, Jisuk Hong, Young-Seoub Kim, Yu-Mi Son, Hyunjin Park, Mi-Hye Lim, Dae Hyun Kim, Jeong Hee Hong, Sung-Chul Lee, Keun Hwa Kim, Su-Young Kim, Woo Jin Na, Sunghun Lim, Myoung-Nam Yoo, Young Song, Dae Jin Lee, Jue Seong Yoon, Wonsuck Choe, Seung-Ah Kim, Seunghyun Choung, Ji Tae Kim, Sukyung Kim, Jihyun Ahn, Kangmo Hong, Yun-Chul Choi, Baek-Yong Ryoo, Seung-Woo Son, Seok-Yoon Lee, Ji-Hyeon Lee, Dong-Wook Woo, KuckHyeun Yoon, Seong Yong Hur, Jongil Choi, Kyung-Hwa Park, Myung-Sook Lee, Seung-Hwa Chu, Yeonhee Kim, Jung-Ah Kim, Yangho Lee, Jiho Sim, Chang Sun Kim, A. Ram Oh, Inbo Department of Environmental Medicine School of Medicine Ewha Womans University Seoul Korea Republic of College of Medicine Ewha Womans University Seoul Korea Republic of Department of Human Systems Medicine College of Medicine Seoul National University Seoul Korea Republic of Department of Obstetrics and Gynecology Ewha Womans University College of Medicine Seoul Korea Republic of Department of Occupational and Environmental Medicine Inha University Hospital Inha University Incheon Korea Republic of Institute of Environmental Medicine Medical Research Center Seoul National University Korea Republic of Environmental Health Research Division National Institute of Environmental Research Incheon Korea Republic of Graduate Program in System Health Science and Engineering Ewha Womans University Ewha Medical Research Institute College of Medicine Seoul Korea Republic of Environmental Health Research Division Department of Environmental Health Research National Institute of Environmental Research Ministry of Environment Incheon Korea Republic of Environmental Health Policy Division Office of Environmental Health Ministry of Environment Sejong Korea Republic of Department of Occupational and Environmental Medicine Inha University School of Medicine Incheon Korea Republic of Department of Occupational and Environmental Medicine Wonju Severance Christian Hospital Wonju College of Medicine Yonsei University Wonju Korea Republic of Division of Cancer Prevention National Cancer Control Institute National Cancer Center Goyang Korea Republic of Department of Big Data Strategy National Health Insurance Service Wonju Korea Republic of Department of Food and Nutrition Wonkwang University Iksan Korea Republic of Environmental Health Center for Childhood Leukemia and Cancer Department of Pediatrics Chonnam National University Hwasun Hospital Hwasun Korea Republic of Environmental Health Center for Childhood Leukemia and Cancer Department of Occupational and

Objectives Although previous epidemiological studies have reported the effects of fetal exposure to phthalates and phenols on birth outcomes, evidence is limited. The objective of this study was to investigate whether prenatal exposure to endocrine-disrupting chemicals [EDCs;phthalates and bisphenol A (BPA)] is associated with birth outcomes and whether there are sex-specific *** We used data from the Korean CHildren’s ENvironmental health Study (Ko-CHENS) cohort. Exposure to phthalates and BPA was measured by urine tests, and the information on outcomes and confounders was obtained from delivery records, biomarker assessment, and a self-reported questionnaire. We performed multivariate logistic regression to estimate the association between exposure to individual EDCs and each birth outcome. Additionally, to evaluate the effects of EDC mixture exposure, we performed weighted quantile sum regression analysis. Subgroup analysis stratified by maternal age and sex at birth was performed to examine potential differences in *** This study included 2,176 mother-child pairs from the Ko-CHENS. We observed a significant association between the risk of PTB and exposure to BPA during early pregnancy and mono-carboxyoctyl phthalate (MCOP) during late pregnancy, with odds ratios of 1.23 (95% CI: 1.01, 1.49) and 1.29 (95% CI: 1.03, 1.62), respectively. Additionally, there was a positive association between exposure to MCOP during early pregnancy and the risk of LBW (OR: 1.39, 95% CI: 1.03, 1.89). For male infants, exposure to MCOP during early pregnancy was associated with the risk of LBW (OR: 2.44, 95% CI: 1.43, 4.15), and exposure to MCOP during late pregnancy was associated with the risk of PTB (OR 1.45, 95% CI: 1.05, 2.02).Conclusions This study presents quantitative evidence for the association between prenatal exposure to EDCs, especially BPA and MCOP, and PTB/LBW. Moreover, the effect was particularly pronounced for older mothers (≥35 years) an

关键词： Obstetrics

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Reply to V Gianfredi et al

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Advances in nutrition (Bethesda, Md.) 2022年第2期13卷 685-686页

作者： Wolfgang Marx Nicola Veronese Jaimon Kelly Sam Collins Gina L Trakman Alexandra Wade Melissa Lane Hajara Aslam Adrienne O'Neil James R Hebert Lauren Blekkenhorst Michael Berk Felice Jacka From Deakin University The Institute for Mental and Physical Health and Clinical Translation (IMPACT) Food & Mood Centre School of Medicine Barwon Health Geelong Victoria Australia. Electronic address: wolf.marx@deakin.edu.au. Aging Branch Neuroscience Institute National Research Council Padova Italy. Centre of Applied Health Economics Griffith University Brisbane Queensland Australia Menzies Health Institute Queensland Griffith University Gold Coast Queensland Australia. From Deakin University The Institute for Mental and Physical Health and Clinical Translation (IMPACT) Food & Mood Centre School of Medicine Barwon Health Geelong Victoria Australia. Department of Dietetics Nutrition and Sport La Trobe University Melbourne Victoria Australia. Alliance for Research in Exercise Nutrition and Activity Allied Health and Human Performance University of South Australia Adelaide South Australia Australia. Melbourne School of Population & Global Health University of Melbourne Melbourne Victoria Australia. Department of Epidemiology and Biostatistics and Cancer Prevention and Control Program Arnold School of Public Health University of South Carolina Columbia SC USA Department of Nutrition Connecting Health Innovations LLC Columbia SC USA. School of Medical and Health Sciences Edith Cowan University Joondalup Western Australia Australia Medical School The University of Western Australia Perth Western Australia Australia. Black Dog Institute Sydney New South Wales Australia James Cook University Townsville Queensland Australia Centre for Adolescent Health Murdoch Children's Research Institute Melbourne Victoria Australia.

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880Dietary inflammatory index and the risk of adult depression symptoms

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International Journal of Epidemiology 2021年第SUPPLEMENT_1期50卷

作者： Shakya, Prem Melaku, Yohannes Adama Page, Amanda J Adams, Robert J Shivappa, Nitin Hébert, James R Gill, Tiffany K Vagal Afferent Research Group University of Adelaide Adelaide Australia Nutrition Diabetes and Metabolism Lifelong Health South Australian Health and Medical Research Institute (SAHMRI) Adelaide Australia Adelaide Institute for Sleep Health (AISH) Flinders University Bedford Park Australia Adelaide Medical School University of Adelaide Adelaide Australia Cancer Prevention and Control Program University of South Carolina Columbia USA Department of Epidemiology and Biostatistics Arnold School of Public Health University of South Carolina Columbia USA

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Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021

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The Lancet 2023年第10397期402卷 203-234页

作者： Ong, Kanyin Liane Stafford, Lauryn K. McLaughlin, Susan A. Boyko, Edward J. Vollset, Stein Emil Smith, Amanda E. Dalton, Bronte E. Duprey, Joe Cruz, Jessica A. Hagins, Hailey Lindstedt, Paulina A. Aali, Amirali Abate, Yohannes Habtegiorgis Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Zeinab Abbasi-Kangevari, Mohsen ElHafeez, Samar Abd Abd-Rabu, Rami Abdulah, Deldar Morad Abdullah, Abu Yousuf Md Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abu-Gharbieh, Eman Abu-Zaid, Ahmed Adane, Tigist Demssew Adane, Denberu Eshetie Addo, Isaac Yeboah Adegboye, Oyelola A. Adekanmbi, Victor Adepoju, Abiola Victor Adnani, Qorinah Estiningtyas Sakilah Afolabi, Rotimi Felix Agarwal, Gina Aghdam, Zahra Babaei Agudelo-Botero, Marcela Arriagada, Constanza Elizabeth Aguilera Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Danish Ahmad, Rizwan Ahmad, Sajjad Ahmad, Aqeel Ahmadi, Ali Ahmadi, Keivan Ahmed, Ali Ahmed, Luai A. Ahmed, Syed Anees Ajami, Marjan Akinyemi, Rufus Olusola Al Hamad, Hanadi Al Hasan, Syed Mahfuz AL-Ahdal, Tareq Mohammed Ali Alalwan, Tariq A. Al-Aly, Ziyad AlBataineh, Mohammad T. Alcalde-Rabanal, Jacqueline Elizabeth Alemi, Sharifullah Ali, Hassam Alinia, Tahereh Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Amare, Firehiwot Ameyaw, Edward Kwabena Amiri, Sohrab Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Anjana, Ranjit Mohan Ansar, Adnan Ansari, Golnoosh Ansari-Moghaddam, Alireza Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Demelash Arifin, Hidayat Arkew, Mesay Armocida, Benedetta Arnlov, Johan Artamonov, Anton A. Arulappan, Judie Aruleba, Raphael Taiwo Arumugam, Ashokan Aryan, Zahra Asemu, Mulu Tiruneh Asghari-Jafarabadi, Mohammad Askari, Elaheh Asmelash, Daniel Astell-Burt, Thomas Athar, Mohammad Athari, Seyyed Shamsadin Atout, Maha Moh'd Wahbi Avila-Burgos, Leticia Awaisu, Ahmed Azadnajafabad, Sina Darshan, B.B. Babamohamadi, Hassan Badar, Muhammad Badawi, Alaa Badiye, Ashish D. Baghcheghi, Nayereh Baghe Institute for Health Metrics and Evaluation School of Medicine General Medicine Service Department of Veterans Affairs Seattle WA United States Department of Health Metrics Sciences School of Medicine Faculty of Medicine France Department of Clinical Governance and Quality Improvement Aleta Wondo Hospital Aleta Wondo Ethiopia Department of Nursing Woldia University Woldia Ethiopia Department of Nursing Department of Orthopedic Surgery Orthopaedic Surgery Social Determinants of Health Research Center Non-communicable Diseases Research Center Epidemiology Department Evidence-Based Practice Center Community and Maternity Nursing Unit University of Duhok Duhok Iraq School of Planning Faculty of Environment Department of Public Health Sciences Penn State College of Medicine Pennsylvania State University Hershey PA United States Biocomplexity Institute Virginia Tech Blacksburg VA United States College of Medicine Department of Public Health Laboratory Technology Sciences Department Department of Family and Community Health University of Health and Allied Sciences Ho Ghana Research Center for Immunodeficiencies Department of Biosciences and Nutrition Karolinska University Hospital Huddinge Sweden Clinical Sciences Department Department of Surgery Department of Surgery Department of Obstetrics & Gynecology College of Graduate Health Sciences University of Tennessee Memphis TN United States Department of Obstetrics & Gynecology Department of Clinical and Psychosocial Epidemiology Department of Anesthesia and Critical Care Centre for Social Research in Health Quality and Systems Performance Unit Cancer Institute NSW Sydney NSW Australia Department of Public Health and Tropical Medicine HIV and Infectious Diseases Department Jhpiego Abuja Nigeria Adolescent Research and Care Department Adolescent Friendly Research Initiative and Care Ado Ekiti Nigeria Department of Epidemiology Department of Epidemiology and Medical Statistics Department of Family Medicine McMaster University

Background: Diabetes is one of the leading causes of death and disability worldwide, and affects people regardless of country, age group, or sex. Using the most recent evidentiary and analytical framework from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD), we produced location-specific, age-specific, and sex-specific estimates of diabetes prevalence and burden from 1990 to 2021, the proportion of type 1 and type 2 diabetes in 2021, the proportion of the type 2 diabetes burden attributable to selected risk factors, and projections of diabetes prevalence through 2050. Methods: Estimates of diabetes prevalence and burden were computed in 204 countries and territories, across 25 age groups, for males and females separately and combined;these estimates comprised lost years of healthy life, measured in disability-adjusted life-years (DALYs;defined as the sum of years of life lost [YLLs] and years lived with disability [YLDs]). We used the Cause of Death Ensemble model (CODEm) approach to estimate deaths due to diabetes, incorporating 25 666 location-years of data from vital registration and verbal autopsy reports in separate total (including both type 1 and type 2 diabetes) and type-specific models. Other forms of diabetes, including gestational and monogenic diabetes, were not explicitly modelled. Total and type 1 diabetes prevalence was estimated by use of a Bayesian meta-regression modelling tool, DisMod-MR 2.1, to analyse 1527 location-years of data from the scientific literature, survey microdata, and insurance claims;type 2 diabetes estimates were computed by subtracting type 1 diabetes from total estimates. Mortality and prevalence estimates, along with standard life expectancy and disability weights, were used to calculate YLLs, YLDs, and DALYs. When appropriate, we extrapolated estimates to a hypothetical population with a standardised age structure to allow comparison in populations with different age structures. We used the comparative r

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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Nature communications 2025年第1期16卷 4852页

作者： Maria Zanti Denise G O'Mahony Michael T Parsons Leila Dorling Joe Dennis Nicholas J Boddicker Wenan Chen Chunling Hu Marc Naven Kristia Yiangou Thomas U Ahearn Christine B Ambrosone Irene L Andrulis Antonis C Antoniou Paul L Auer Caroline Baynes Clara Bodelon Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Kristen D Brantley Nicola J Camp Archie Campbell Jose E Castelao Melissa H Cessna Jenny Chang-Claude Fei Chen Georgia Chenevix-Trench Don M Conroy Kamila Czene Arcangela De Nicolo Susan M Domchek Thilo Dörk Alison M Dunning A Heather Eliassen D Gareth Evans Peter A Fasching Jonine D Figueroa Henrik Flyger Manuela Gago-Dominguez Montserrat García-Closas Gord Glendon Anna González-Neira Felix Grassmann Andreas Hadjisavvas Christopher A Haiman Ute Hamann Steven N Hart Mikael B A Hartman Weang-Kee Ho James M Hodge Reiner Hoppe Sacha J Howell Anna Jakubowska Elza K Khusnutdinova Yon-Dschun Ko Peter Kraft Vessela N Kristensen James V Lacey Jingmei Li Geok Hoon Lim Sara Lindström Artitaya Lophatananon Craig Luccarini Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L Milne Kenneth Muir Katherine L Nathanson Rocio Nuñez-Torres Nadia Obi Janet E Olson Julie R Palmer Mihalis I Panayiotidis Alpa V Patel Paul D P Pharoah Eric C Polley Muhammad U Rashid Kathryn J Ruddy Emmanouil Saloustros Elinor J Sawyer Marjanka K Schmidt Melissa C Southey Veronique Kiak-Mien Tan Soo Hwang Teo Lauren R Teras Diana Torres Amy Trentham-Dietz Thérèse Truong Celine M Vachon Qin Wang Jeffrey N Weitzel Siddhartha Yadav Song Yao Gary R Zirpoli Melissa S Cline Peter Devilee Sean V Tavtigian David E Goldgar Fergus J Couch Douglas F Easton Amanda B Spurdle Kyriaki Michailidou Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus. Department of Medical Genetics Oslo University Hospital Oslo Norway. Population Health Program QIMR Berghofer Medical Research Institute Brisbane Queensland Australia. Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK. Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN USA. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA. Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA. Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY USA. Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada. Department of Molecular Genetics University of Toronto Toronto Ontario Canada. Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI USA. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK. Department of Population Science American Cancer Society Atlanta GA USA. Radiation Oncology Research Unit Hannover Medical School Hannover Germany. Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark. Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark. Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA. Department of Internal Medicine and Huntsman Cancer Institute University of Utah Salt Lake City UT USA. Centre for Genomic and Experimental Medicine Institute of Genetics & Cancer The University of Ed

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data of BRCA1 and BRCA2 from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast cancer Association Consortium, the cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207 BRCA1 and BRCA2 variants, with 6909 being coding, covering 23.4% of BRCA1 and BRCA2 VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants; exhibiting 99.1% sensitivity and 95.3% specificity for BRCA1 and 93.3% sensitivity and 86.6% specificity for BRCA2. This approach provides case-control evidence for 787 unclassified variants; these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification.

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Tuberculosis infection and lung adenocarcinoma: Mendelian randomization and pathway analysis of genome-wide association study data from never-smoking Asian women

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Genomics 2020年第2期112卷 1223-1232页

作者： Jason Y Y Wong Han Zhang Chao A Hsiung Kouya Shiraishi Kai Yu Keitaro Matsuo Maria Pik Wong Yun-Chul Hong Jiucun Wang Wei Jie Seow Zhaoming Wang Minsun Song Hee Nam Kim I-Shou Chang Nilanjan Chatterjee Wei Hu Chen Wu Tetsuya Mitsudomi Wei Zheng Jin Hee Kim Adeline Seow Neil E Caporaso Min-Ho Shin Lap Ping Chung She-Juan An Ping Wang Yang Yang Hong Zheng Yasushi Yatabe Xu-Chao Zhang Young Tae Kim Qiuyin Cai Zhihua Yin Young-Chul Kim Bryan A Bassig Jiang Chang James Chung Man Ho Bu-Tian Ji Yataro Daigo Hidemi Ito Yukihide Momozawa Kyota Ashikawa Yoichiro Kamatani Takayuki Honda H Dean Hosgood Hiromi Sakamoto Hideo Kunitoh Koji Tsuta Shun-Ichi Watanabe Michiaki Kubo Yohei Miyagi Haruhiko Nakayama Shingo Matsumoto Masahiro Tsuboi Koichi Goto Jianxin Shi Lei Song Xing Hua Atsushi Takahashi Akiteru Goto Yoshihiro Minamiya Kimihiro Shimizu Kazumi Tanaka Fusheng Wei Fumihiko Matsuda Jian Su Yeul Hong Kim In-Jae Oh Fengju Song Wu-Chou Su Yu-Min Chen Gee-Chen Chang Kuan-Yu Chen Ming-Shyan Huang Li-Hsin Chien Yong-Bing Xiang Jae Yong Park Sun-Seog Kweon Chien-Jen Chen Kyoung-Mu Lee Batel Blechter Haixin Li Yu-Tang Gao Biyun Qian Daru Lu Jianjun Liu Hyo-Sung Jeon Chin-Fu Hsiao Jae Sook Sung Ying-Huang Tsai Yoo Jin Jung Huan Guo Zhibin Hu Wen-Chang Wang Charles C Chung Laurie Burdett Meredith Yeager Amy Hutchinson Sonja I Berndt Wei Wu Herbert Pang Yuqing Li Jin Eun Choi Kyong Hwa Park Sook Whan Sung Li Liu C H Kang Meng Zhu Chung-Hsing Chen Tsung-Ying Yang Jun Xu Peng Guan Wen Tan Chih-Liang Wang Michael Hsin Ko-Yung Sit James Ho Ying Chen Yi Young Choi Jen-Yu Hung Jun Suk Kim Ho Il Yoon Chien-Chung Lin In Kyu Park Ping Xu Yuzhuo Wang Qincheng He Reury-Perng Perng Chih-Yi Chen Roel Vermeulen Junjie Wu Wei-Yen Lim Kun-Chieh Chen Yao-Jen Li Jihua Li Hongyan Chen Chong-Jen Yu Li Jin Tzu-Yu Chen Shih-Sheng Jiang Jie Liu Taiki Yamaji Belynda Hicks Kathleen Wyatt Shengchao A Li Juncheng Dai Hongxia Ma Guangfu Jin Bao Song Zhehai Wang Sensen Cheng Xuelian Li Yangwu Ren Ping Cui Motoki Iwasaki Taichi Shimazu Shoichiro Tsugane Junjie Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA. Electronic address: jason.wong@nih.gov. Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA. Institute of Population Health Sciences National Health Research Institutes Zhunan Taiwan. Division of Genome Biology National Cancer Center Research Institute Tokyo Japan. Division of Cancer Epidemiology and Prevention Aichi Cancer Center Research Institute Nagoya Japan Department of Cancer Epidemiology Nagoya University Graduate School of Medicine Nagoya Japan. Department of Pathology Queen Mary Hospital The University of Hong Kong Hong Kong. Department of Preventive Medicine Seoul National University College of Medicine Seoul Republic of Korea. Ministry of Education Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai China State Key Laboratory of Genetic Engineering School of Life Sciences Fudan University Shanghai China. Saw Swee Hock School of Public Health National University of Singapore Singapore. Cancer Genomics Research Laboratory Leidos Biomedical Research Inc Gaithersburg MD USA Department of Computational Biology St. Jude Children's Research Hospital Memphis TN USA. Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA Department of Statistics Sookmyung Women's University Seoul Republic of Korea. Department of Preventive Medicine Chonnam National University Medical School Gwangju Republic of Korea. National Institute of Cancer Research National Health Research Institutes Zhunan Taiwan. Bloomberg School of Public Health Johns Hopkins University Baltimore MD USA. Department of Etiology & Carcinogenesis and State Key Laboratory of Molecular Oncology Cancer Institute and Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China. Division of Thoracic Surgery Kinki University School of Medicine Sayama Japan. Division of

We investigated whether genetic susceptibility to tuberculosis (TB) influences lung adenocarcinoma development among never-smokers using TB genome-wide association study (GWAS) results within the Female Lung cancer Consortium in Asia. Pathway analysis with the adaptive rank truncated product method was used to assess the association between a TB-related gene-set and lung adenocarcinoma using GWAS data from 5512 lung adenocarcinoma cases and 6277 controls. The gene-set consisted of 31 genes containing known/suggestive associations with genetic variants from previous TB-GWAS. Subsequently, we followed-up with Mendelian Randomization to evaluate the association between TB and lung adenocarcinoma using three genome-wide significant variants from previous TB-GWAS in East Asians. The TB-related gene-set was associated with lung adenocarcinoma (p = 0.016). Additionally, the Mendelian Randomization showed an association between TB and lung adenocarcinoma (OR = 1.31, 95% CI: 1.03, 1.66, p = 0.027). Our findings support TB as a causal risk factor for lung cancer development among never-smoking Asian women.

关键词： Lung adenocarcinoma Lung cancer Mendelian randomization Pathway analysis Tuberculosis

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