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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (vol 51, pg 659, 2019)

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NATURE GENETICS 2019年第6期51卷 1068-1068页

作者： Huckins, Laura M. Dobbyn, Amanda Ruderfer, Douglas M. Hoffman, Gabriel Wang, Weiqing Pardinas, Antonio F. Rajagopal, Veera M. Als, Thomas D. Nguyen, Hoang T. Girdhar, Kiran Boocock, James Roussos, Panos Fromer, Menachem Kramer, Robin Domenici, Enrico Gamazon, Eric R. Purcell, Shaun Demontis, Ditte Borglum, Anders D. Walters, James T. R. O'Donovan, Michael C. Sullivan, Patrick Owen, Michael J. Devlin, Bernie Sieberts, Solveig K. Cox, Nancy J. Im, Hae Kyung Sklar, Pamela Stahl, Eli A. Pamela Sklar Division of Psychiatric Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA Vanderbilt University Medical Center Nashville TN USA MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff UK Department of Biomedicine Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Denmark Center for Integrative Sequencing Aarhus University Aarhus Denmark Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA Human Brain Collection Core National Institute of Mental Health Bethesda MD USA Laboratory of Neurogenomic Biomarkers Centre for Integrative Biology (CIBIO) University of Trento Trento Italy Clare Hall University of Cambridge Cambridge UK University of North Carolina at Chapel Hill Chapel Hill NC USA Karolinska Institutet Stockholm Sweden Department of Psychiatry University of Pittsburgh Pittsburgh PA USA Systems Biology Sage Bionetworks Seattle WA USA Section of Genetic Medicine Department of Medicine University of Chicago Chicago IL USA Integrated Technology Research Laboratories Pharmaceutical Research Division Takeda Pharmaceutical Company Limited Fujisawa Japan Neuropsychiatry Section Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Neuropsychiatric Signaling Program Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Psychiatry JJ Peters Virginia Medical Center Bronx NY USA Department of Neuroscience Icahn School of Medicine at Mount Sinai New York New York NY USA Friedman Brain Institute

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.

关键词： Gene expression genome-wide association studies Schizophrenia Transcriptomics

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Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women

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Human molecular genetics 2016年第3期25卷 620-9页

作者： Zhaoming Wang Wei Jie Seow Kouya Shiraishi Chao A Hsiung Keitaro Matsuo Jie Liu Kexin Chen Taiki Yamji Yang Yang I-Shou Chang Chen Wu Yun-Chul Hong Laurie Burdett Kathleen Wyatt Charles C Chung Shengchao A Li Meredith Yeager Amy Hutchinson Wei Hu Neil Caporaso Maria T Landi Nilanjan Chatterjee Minsun Song Joseph F Fraumeni Takashi Kohno Jun Yokota Hideo Kunitoh Kyota Ashikawa Yukihide Momozawa Yataro Daigo Tetsuya Mitsudomi Yasushi Yatabe Toyoaki Hida Zhibin Hu Juncheng Dai Hongxia Ma Guangfu Jin Bao Song Zhehai Wang Sensen Cheng Zhihua Yin Xuelian Li Yangwu Ren Peng Guan Jiang Chang Wen Tan Chien-Jen Chen Gee-Chen Chang Ying-Huang Tsai Wu-Chou Su Kuan-Yu Chen Ming-Shyan Huang Yuh-Min Chen Hong Zheng Haixin Li Ping Cui Huan Guo Ping Xu Li Liu Motoki Iwasaki Taichi Shimazu Shoichiro Tsugane Junjie Zhu Gening Jiang Ke Fei Jae Yong Park Yeul Hong Kim Jae Sook Sung Kyong Hwa Park Young Tae Kim Yoo Jin Jung Chang Hyun Kang In Kyu Park Hee Nam Kim Hyo-Sung Jeon Jin Eun Choi Yi Young Choi Jin Hee Kim In-Jae Oh Young-Chul Kim Sook Whan Sung Jun Suk Kim Ho-Il Yoon Sun-Seog Kweon Min-Ho Shin Adeline Seow Ying Chen Wei-Yen Lim Jianjun Liu Maria Pik Wong Victor Ho Fun Lee Bryan A Bassig Margaret Tucker Sonja I Berndt Wong-Ho Chow Bu-Tian Ji Junwen Wang Jun Xu Alan Dart Loon Sihoe James C M Ho John K C Chan Jiu-Cun Wang Daru Lu Xueying Zhao Zhenhong Zhao Junjie Wu Hongyan Chen Li Jin Fusheng Wei Guoping Wu She-Juan An Xu-Chao Zhang Jian Su Yi-Long Wu Yu-Tang Gao Yong-Bing Xiang Xingzhou He Jihua Li Wei Zheng Xiao-Ou Shu Qiuyin Cai Robert Klein William Pao Charles Lawrence H Dean Hosgood Chin-Fu Hsiao Li-Hsin Chien Ying-Hsiang Chen Chung-Hsing Chen Wen-Chang Wang Chih-Yi Chen Chih-Liang Wang Chong-Jen Yu Hui-Ling Chen Yu-Chun Su Fang-Yu Tsai Yi-Song Chen Yao-Jen Li Tsung-Ying Yang Chien-Chung Lin Pan-Chyr Yang Tangchun Wu Dongxin Lin Baosen Zhou Jinming Yu Hongbing Shen Michiaki Kubo Stephen J Chanock Nathaniel Rothman Qing Lan Cancer Genomics Research Laboratory Leidos Biomedical Research Inc. Gaithersburg MD USA Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Rockville MD USA wangzha@mail.nih.gov. Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Rockville MD USA. Division of Genome Biology National Cancer Center Hospital Tokyo Japan. Institute of Population Health Sciences. Division of Molecular Medicine Aichi Cancer Center Research Institute Nagoya Japan. Department of Oncology Shandong Cancer Hospital and Institute Shandong Academy of Medical Sciences Jinan China. Department of Epidemiology and Biostatistics National Clinical Research Center for Cancer Tianjin Medical University Cancer Institute and Hospital Tianjin China. Epidemiology and Prevention Group Research Center for Cancer Prevention and Screening National Cancer Center Tokyo Japan. Shanghai Pulmonary Hospital Shanghai China. National Institute of Cancer Research National Health Research Institutes Zhunan Taiwan. 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. Department of Preventive Medicine. Cancer Genomics Research Laboratory Leidos Biomedical Research Inc. Gaithersburg MD USA Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Rockville MD USA. Cancer Genome Biology Group Institute of Predictive and Personalized Medicine of Cancer Barcelona Spain. Department of Medical Oncology Japanese Red Cross Medical Center Tokyo Japan. Laboratory for Genotyping Development RIKEN Center for Integrative Medical Sciences Yokohama Japan. Laboratory of Molecular Medicine Human Genome Center Institute of Medical Science University of Tokyo Tokyo Japan. Division of Thoracic Surgery Kinki University School of Medicine

genome-wide association studies (GWAS) of lung cancer in Asian never-smoking women have previously identified six susceptibility loci associated with lung cancer risk. To further discover new susceptibility loci, we imputed data from four GWAS of Asian non-smoking female lung cancer (6877 cases and 6277 controls) using the 1000 genomes Project (Phase 1 Release 3) data as the reference and genotyped additional samples (5878 cases and 7046 controls) for possible replication. In our meta-analysis, three new loci achieved genome-wide significance, marked by single nucleotide polymorphism (SNP) rs7741164 at 6p21.1 (per-allele odds ratio (OR) = 1.17; P = 5.8 × 10(-13)), rs72658409 at 9p21.3 (per-allele OR = 0.77; P = 1.41 × 10(-10)) and rs11610143 at 12q13.13 (per-allele OR = 0.89; P = 4.96 × 10(-9)). These findings identified new genetic susceptibility alleles for lung cancer in never-smoking women in Asia and merit follow-up to understand their biological underpinnings.

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Proceedings from the 9th annual conference on the science of dissemination and implementation: Washington, DC, USA. 14-15 December 2016

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Implement Sci 2017年第SUPPL 1期12卷 48-48页

作者： David Chambers Lisa Simpson Gila Neta Ulrica von Thiele Schwarz Antoinette Percy-Laurry Gregory A. Aarons Ross Brownson Amanda Vogel Shannon Wiltsey Stirman Kenneth Sherr Rachel Sturke Wynne E. Norton Allyson Varley Cynthia Vinson Lisa Klesges Suzanne Heurtin-Roberts M. Rashad Massoud Leighann Kimble Arne Beck Claire Neely Jennifer Boggs Carmel Nichols Wen Wan Erin Staab Neda Laiteerapong Nathalie Moise Ravi Shah Susan Essock Margaret Handley Amy Jones Jay Carruthers Karina Davidson Lauren Peccoralo Lloyd Sederer Todd Molfenter Ashley Scudder Sarah Taber-Thomas Kristen Schaffner Amy Herschell Eva Woodward Jeffery Pitcock Mona Ritchie JoAnn Kirchner Julia E. Moore Sobia Khan Shusmita Rashid Jamie Park Melissa Courvoisier Sharon Straus Daniel Blonigen Allison Rodriguez Luisa Manfredi Andrea Nevedal Joel Rosenthal David Smelson Christine Timko Nicole Stadnick Jennifer Regan Miya Barnett Anna Lau Lauren Brookman-Frazee Erick Guerrero Karissa Fenwick Yinfei Kong Gregory Aarons Rebecca Lengnick-Hall Benjamin Henwood Nina Sayer Craig Rosen Robert Orazem Brandy Smith Lindsey Zimmerman David Lounsbury Rachel Kimerling Jodie A. Trafton Steven Lindley Rahul Bhargava Hal Roberts Laura Gibson Gabriel J. Escobar Vincent Liu Benjamin Turk Arona Ragins Patricia Kipnis Ashley Ketterer Gruszkowski Michael W. Kennedy Emily Rentschler Drobek Lior Turgeman Aleksandra Sasha Milicevic Terrence L. Hubert Larissa Myaskovsky Youxu C. Tjader Robert J. Monte Kathryn G. Sapnas Edmond Ramly Diane R Lauver Christie M Bartels Shereef Elnahal Andrea Ippolito Hillary Peabody Carolyn Clancy Randall Cebul Thomas Love Douglas Einstadter Shari Bolen Brook Watts Vera Yakovchenko Angela Park William Lukesh Donald R. Miller David Thornton Mari-Lynn Drainoni Allen L. Gifford Shawna Smith Julia Kyle Mark S Bauer Daniel Eisenberg Celeste Liebrecht Michelle Barbaresso Amy Kilbourne Elyse Park Giselle Perez Jamie Ostroff Sarah Greene Michael Parchman Brian Austin Eric Larson Stefanie Ferreri Chris Shea Megan Smith Kea Turner Jennifer Bacci Kyle Bigham Geoffr Division of Cancer Control and Population Sciences National Cancer Institute Rockville MD 20850 USA AcademyHealth Washington DC 20009 USA Department of Learning Informatics Management and Ethics Karolinska Institutet Stockholm 17177 Sweden Department of Psychiatry University of California San Diego San Diego CA 92093 USA George Warren Brown School of Social Work Washington University in St. Louis St. Louis MO 63130 USA Center for Global Health National Cancer Institute Rockville MD 20850 USA Dissemination and Training Division VA National Center for PTSD Palo Alto CA 94305 USA Department of Global Health University of Washington Seattle WA 98105 USA Center for Global Health Studies Fogarty International Center National Institutes of Health Bethesda MD 20912 USA School of Public Health University of Alabama at Birmingham Birmingham AL 35243 USA School of Public Health University of Memphis Memphis TN 38152 USA USAID Applying Science to Strengthen and Improve Systems (ASSIST) Project Bethesda Maryland 20814 USA Institute for Health Research Kaiser Permanente Denver CO 80231 USA ICSI Institute for Clinical Systems Improvement Bloomington MN 55425 USA Medicine University of Chicago Chicago IL 60637 USA Medicine Columbia University Medical Center New York NY 10032 USA Psychiatry Columbia University New York NY 10032 USA General Internal Medicine Epidemiology and Biostatistics University of California San Francisco San Francisco CA 94110 USA New York State Office of Mental Health New York NY 10001 USA Medicine Icahn School of Medicine at Mount Sinai New York NY 10029 USA Center for Health Enhancement System Studies University of Wisconsin Madison WI 53706 USA Department of Psychiatry University of Pittsburgh Pittsburgh PA 15213 USA Psychology University at Buffalo Buffalo NY 14260 USA Department of Psychology West Virginia University Morgantown WV 26506 USA MIRECC VA North Little Rock AR 72114 USA QUERI for Team-Based Behavioral Health Centr

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Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

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BMC genomics 2016年第6期17 Suppl 6卷 487页

作者： Jerry W. Shay Noriko Homma Ruyun Zhou Muhammad Imran Naseer Adeel G. Chaudhary Mohammed Al-Qahtani Nobutaka Hirokawa Maryam Goudarzi Albert J. Fornace Saleh Baeesa Deema Hussain Mohammed Bangash Fahad Alghamdi Hans-Juergen Schulten Angel Carracedo Ishaq Khan Hanadi Qashqari Nawal Madkhali Mohamad Saka Kulvinder S. Saini Awatif Jamal Jaudah Al-Maghrabi Adel Abuzenadah Adeel Chaudhary Mohammed Al Qahtani Ghazi Damanhouri Heba Alkhatabi Anne Goodeve Laura Crookes Nikolas Niksic Nicholas Beauchamp Adel M. Abuzenadah Jim Vaught Bruce Budowle Mourad Assidi Abdelbaset Buhmeida Leena Merdad Sudhir Kumar Sayaka Miura Karen Gomez Mahmood Rasool Ahmed Rebai Sajjad Karim Hend F. Nour Eldin Heba Abusamra Elham M. Alhathli Nada Salem Mohammed H. Al-Qahtani Hossam Faheem Ashok Agarwa Eberhard Nieschlag Joachim Wistuba Oliver S. Damm Mohd A. Beg Taha A. Abdel-Meguid Hisham A. Mosli Osama S. Bajouh Serdar Coskun Muhammad Abu-Elmagd Ashraf Dallol Sahar Hakamy Wejdan Al-Qahtani Asia Al-Harbi Shireen Hussain Burak Ozkosem Rick DuBois Safia S. Messaoudi Maryam T. Dandana Touhami Mahjoub Wassim Y. Almawi S. Abdalla M. Nabil Al-Aama Asmaa Elzawahry Tsuyoshi Takahashi Sachiyo Mimaki Eisaku Furukawa Rie Nakatsuka Isao Kurosaka Takahiko Nishigaki Hiromi Nakamura Satoshi Serada Tetsuji Naka Seiichi Hirota Tatsuhiro Shibata Katsuya Tsuchihara Toshirou Nishida Mamoru Kato Sajid Mehmood Naeem Mahmood Ashraf Awais Asif Muhammad Bilal Malik Siddique Mehmood Aadil Hussain Qazi Mohammad Sajid Jamal Mughees Uddin Siddiqui Mohammad A. Alzohairy Mohammad A. Al Karaawi Taoufik Nedjadi Heba Al-Khattabi Adel Al-Ammari Ahmed Al-Sayyad Hédia Zitouni Nozha Raguema Marwa Ben Ali Wided Malah Raja Lfalah Wassim Almawi Mohammed Elanbari Andrey Ptitsyn Sana Mahjoub Rabeb El Ghali Bechir Achour Nidhal Ben Amor Brahim N’siri Hamid Morjani Esam Azhar Vera Chayeb Maryam Dendena Hedia Zitouni Khedija Zouari-Limayem Bassem Refaat Ahmed M. Ashshi Sarah A. Batwa Hazem Ramadan Amal Awad Ahmed Ateya Adel Galal Ahmed El-Shemi Ahmad Ashshi Mohammed Basalamah Youjin Na Cha University of Texas Southwestern Medical Center Dallas USA Department of Cell Biology and Anatomy Graduate School of Medicine the University of Tokyo Tokyo Japan Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia Department of Biochemistry and Molecular & Cellular Biology Lombardi Comprehensive Cancer Center Georgetown University Washington USA Department of Oncology Lombardi Comprehensive Cancer Center Georgetown University Washington USA Department of Radiation Medicine Lombardi Comprehensive Cancer Center Georgetown University Washington USA Center of Excellence in Genomic Medicine Research (CEGMR) King Abdulaziz University Jeddah Kingdom of Saudi Arabia King Fahd Medical Research Centre King Abdulaziz University Jeddah Saudi Arabia Centre of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia Sheffield Diagnostic Genetic Service Sheffield Children’s NHS Foundation Trust Western Bank Sheffield UK Center of Innovations in Personalized Medicine King Abdulaziz University Jeddah Saudi Arabia President ISBER Editor-in-Chief Biopreservation & Biobanking ᅟ USA Institute of Applied Genetics Department of Molecular and Medical Genetics University of North Texas Health Science Center Fort Worth USA Department of Dental Public Health Faculty of Dentistry King Abdulaziz University Jeddah Saudi Arabia Institute for Genomics and Evolutionary Medicine Temple University Philadelphia USA Center of Excellence in Genomic Medicine King Abdulaziz University Jeddah Kingdom of Saudi Arabia Laboratory of Molecular and Cellular Screening Processes (Bioinformatics Group) Centre of Biotechnology of Sfax Sfax Tunisia Fujitsu Technology Solutions International ᅟ ᅟ Case Western Reserve University School of Medicine and Lerner College of Medicine Cleveland Clinic Foundation Cleveland USA American Center for Reproductive Medicine Andrology Center Cleveland USA Center for Reproductive Medicine and

O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J. Fornace Jr. O4 A unique integrated system to discern pathogenesis of central nervous system tumors Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M. Abuzenadah O8 International biobanking in the era of precision medicine Jim Vaught O9 Biobank and biodata for clinical and forensic applications Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida O10 Tissue microarray technique: a powerful adjunct tool for molecular profiling of solid tumors Jaudah Al-Maghrabi O11 The CEGMR biobanking unit: achievements, challenges and future plans Abdelbaset Buhmeida, Mourad Assidi, Leena Merdad O12 Phylomedicine of tumors Sudhir Kumar, Sayaka Miura, Karen Gomez O13 Clinical implementation of pharmacogenomics for colorectal cancer treatment Angel Carracedo, Mahmood Rasool O14 From association to causality: translation of GWAS findings for genomic me

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Genetics in Medicine Open

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Genetics in Medicine Open 2024年 2卷 101873-101873页

作者： van der Sluijs, P.J. Gösgens, M. Dingemans, A.J.M. Striano, P. Riva, A. Mignot, C. Faudet, A. Vasileiou, G. Walther, M. Schrier Vergano, S.A. Alders, M. Alkuraya, F.S. Alorainy, I. Alsaif, H.S. Anderlid, B. Bache, I. van Beek, I. Blanluet, M. van Bon, B.W. Brunet, T. Brunner, H. Carriero, M.L. Charles, P. Chatron, N. Coccia, E. Dubourg, C. Earl, R.K. Eichler, E.E. Faivre, L. Foulds, N. Graziano, C. Guerrot, A.M. Hashem, M.O. Heide, S. Heron, D. Hickey, S.E. Hopman, S.M.J. Kattentidt-Mouravieva, A. Kerkhof, J. Klein Wassink-Ruiter, J.S. Kurtz-Nelson, E.C. Kušíková, K. Kvarnung, M. Lecoquierre, F. Leszinski, G.S. Loberti, L. Magoulas, P.L. Mari, F. Maystadt, I. Merla, G. Milunsky, J.M. Moortgat, S. Nicolas, G. Leary, M.O.’ Odent, S. Ozmore, J.R. Parbhoo, K. Pfundt, R. Piccione, M. Pinto, A.M. Popp, B. Putoux, A. Rehm, H.L. Reis, A. Renieri, A. Rosenfeld, J.A. Rossi, M. Salzano, E. Saugier-Veber, P. Seri, M. Severi, G. Sonmez, F.M. Strobl-Wildemann, G. Stuurman, K.E. Uctepe, E. Van Esch, H. Vitetta, G. de Vries, B.B.A. Wahl, D. Wang, T. Zacher, P. Heitink, K.R. Ropers, F.G. Steenbeek, D. Rybak, T. Santen, G.W.E. Department of Clinical Genetics Leiden University Medical Center Leiden Netherlands Department of Human Genetics Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen Netherlands Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genova Italy Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Service de génétique médicale APHP Pitié-Salpêtrière Paris France Département de Génétique Assistance publique - Hôpitaux de Paris Sorbonne Université Hôpital Pitié-Salpêtrière et Trousseau Paris France Institute of Human Genetics Universitätsklinikum Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg Erlangen 91054 Germany Centre for Rare Diseases Erlangen (ZSEER) Erlangen Germany Children's Hospital of The King's Daughters Norfolk VA United States Department of Pediatrics Eastern Virginia Medical School Norfolk VA United States Section Clinical Genetics Department of Human Genetics Amsterdam University Medical Centers Amsterdam Netherlands Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia Department of Radiology and Diagnostic Imaging King Khalid University Hospital and College of Medicine King Saud University Riyadh Saudi Arabia Centre of Excellence for Biomedicine Joint Centers of Excellence Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark Service de Génétique Oncologique Institut Curie Paris France Department of Human

Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. Methods: Data on patients aged 18+ years with ARID1B-related disorder were collected through an online questionnaire completed by clinicians and parents. Results: Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients’ photographs taken at different ages clustered consistently, separate from matched controls. Conclusion: The ARID1B spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with increasing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression. © 2024 The Authors

关键词： Adult ARID1B Coffin–Siris syndrome Developmental delay Intellectual disability

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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

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Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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Author Correction: Universal DNA methylation age across mammalian tissues

Nature aging

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Nature aging 2023年第11期3卷 1462页

作者： A T Lu Z Fei A Haghani T R Robeck J A Zoller C Z Li R Lowe Q Yan J Zhang H Vu J Ablaeva V A Acosta-Rodriguez D M Adams J Almunia A Aloysius R Ardehali A Arneson C S Baker G Banks K Belov N C Bennett P Black D T Blumstein E K Bors C E Breeze R T Brooke J L Brown G G Carter A Caulton J M Cavin L Chakrabarti I Chatzistamou H Chen K Cheng P Chiavellini O W Choi S M Clarke L N Cooper M L Cossette J Day J DeYoung S DiRocco C Dold E E Ehmke C K Emmons S Emmrich E Erbay C Erlacher-Reid C G Faulkes S H Ferguson C J Finno J E Flower J M Gaillard E Garde L Gerber V N Gladyshev V Gorbunova R G Goya M J Grant C B Green E N Hales M B Hanson D W Hart M Haulena K Herrick A N Hogan C J Hogg T A Hore T Huang J C Izpisua Belmonte A J Jasinska G Jones E Jourdain O Kashpur H Katcher E Katsumata V Kaza H Kiaris M S Kobor P Kordowitzki W R Koski M Krützen S B Kwon B Larison S G Lee M Lehmann J F Lemaitre A J Levine C Li X Li A R Lim D T S Lin D M Lindemann T J Little N Macoretta D Maddox C O Matkin J A Mattison M McClure J Mergl J J Meudt G A Montano K Mozhui J Munshi-South A Naderi M Nagy P Narayan P W Nathanielsz N B Nguyen C Niehrs J K O'Brien P O'Tierney Ginn D T Odom A G Ophir S Osborn E A Ostrander K M Parsons K C Paul M Pellegrini K J Peters A B Pedersen J L Petersen D W Pietersen G M Pinho J Plassais J R Poganik N A Prado P Reddy B Rey B R Ritz J Robbins M Rodriguez J Russell E Rydkina L L Sailer A B Salmon A Sanghavi K M Schachtschneider D Schmitt T Schmitt L Schomacher L B Schook K E Sears A W Seifert A Seluanov A B A Shafer D Shanmuganayagam A V Shindyapina M Simmons K Singh I Sinha J Slone R G Snell E Soltanmaohammadi M L Spangler M C Spriggs L Staggs N Stedman K J Steinman D T Stewart V J Sugrue B Szladovits J S Takahashi M Takasugi E C Teeling M J Thompson B Van Bonn S C Vernes D Villar H V Vinters M C Wallingford N Wang R K Wayne G S Wilkinson C K Williams R W Williams X W Yang M Yao B G Young B Zhang Z Zhang P Zhao Y Zhao W Zhou J Zimmermann J Ernst K Raj S Horvath Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA. Altos Labs San Diego Institute of Science San Diego CA USA. Department of Biostatistics Fielding School of Public Health University of California Los Angeles Los Angeles CA USA. Department of Statistics University of California Riverside Riverside CA USA. Zoological SeaWorld Parks and Entertainment Orlando FL USA. Altos Labs Cambridge Institute of Science Cambridge UK. Bioinformatics Interdepartmental Program University of California Los Angeles CA USA. Department of Biological Chemistry University of California Los Angeles Los Angeles CA USA. Department of Biology University of Rochester Rochester NY USA. Department of Neuroscience Peter O'Donnell Jr. Brain Institute University of Texas Southwestern Medical Center Dallas TX USA. Department of Biology University of Maryland College Park MD USA. Loro Parque Fundacion Puerto de la Cruz Spain. Department of Biology University of Kentucky Lexington KY USA. Division of Cardiology Department of Internal Medicine David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA. Marine Mammal Institute Oregon State University Newport OR USA. School of Science and Technology Clifton Campus Nottingham Trent University Nottingham UK. School of Life and Environmental Sciences the University of Sydney Sydney New South Wales Australia. Department of Zoology and Entomology University of Pretoria Hatfield South Africa. Busch Gardens Tampa Tampa FL USA. Department of Ecology and Evolutionary Biology University of California Los Angeles Los Angeles CA USA. Rocky Mountain Biological Laboratory Crested Butte CO USA. Altius Institute for Biomedical Sciences Seattle WA USA. Epigenetic Clock Development Foundation Los Angeles CA USA. Center for Species Survival Smithsonian Conservation Biology Institute Front Royal VA USA. Department of Evolution Eco

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Correction to: Evaluation of serological lateral flow assays for severe acute respiratory syndrome coronavirus-2

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BMC infectious diseases 2021年第1期21卷 628页

作者： Bianca A Trombetta Savannah E Kandigian Robert R Kitchen Korneel Grauwet Pia Kivisäkk Webb Glenn A Miller Charles G Jennings Sejal Jain Samara Miller Yikai Kuo Thadryan Sweeney Tal Gilboa Maia Norman Daimon P Simmons Christopher E Ramirez Melissa Bedard Catherine Fink Jina Ko Esmarline J De León Peralta Gerald Watts Emma Gomez-Rivas Vannessa Davis Rocky M Barilla Jianing Wang Pierre Cunin Samuel Bates Chevaun Morrison-Smith Benjamin Nicholson Edmond Wong Leena El-Mufti Michael Kann Anna Bolling Brooke Fortin Hayden Ventresca Wen Zhou Santiago Pardo Megan Kwock Aditi Hazra Leo Cheng Q Rushdy Ahmad James A Toombs Rebecca Larson Haley Pleskow Nell Meosky Luo Christina Samaha Unnati M Pandya Pushpamali De Silva Sally Zhou Zakary Ganhadeiro Sara Yohannes Rakiesha Gay Jacqueline Slavik Shibani S Mukerji Petr Jarolim David R Walt Becky C Carlyle Lauren L Ritterhouse Sara Suliman Department of Neurology Massachusetts General Hospital Harvard Medical School Charlestown Boston MA USA. Department of Medicine Harvard Medical School Boston MA USA. Mass General Brigham Innovation Boston MA USA. Cardiology Division Massachusetts General Hospital Charlestown MA USA. Department of Neurosurgery Brigham and Women's Hospital Harvard Medical School Boston MA USA. Department of Medical Oncology and Center for Cancer-Genome Discovery Dana-Farber Cancer Institute Boston MA USA. Department of Pathology Harvard Medical School Boston MA USA. Center for Regenerative Medicine Massachusetts General Hospital Boston MA USA. Harvard Stem Cell Institute Cambridge MA USA. Department of Psychiatry Massachusetts General Hospital Boston MA USA. Wyss Institute for Biologically Inspired Engineering Harvard University Boston MA USA. Department of Pathology Brigham and Women's Hospital Harvard Medical School Boston MA USA. Sackler School of Biomedical Sciences Tufts University School of Medicine Boston MA USA. Division of Rheumatology Inflammation and Immunity Brigham and Women's Hospital Boston MA USA. Medical Diagnostic Technology Evaluation LLC Carlisle MA USA. Center for Systems Biology Massachusetts General Hospital Boston MA USA. Department of Pathology Massachusetts General Hospital Boston MA USA. Wellman Center for Photomedicine Massachusetts General Research Institute Boston MA USA. Department of Dermatology Massachusetts General Hospital Boston MA USA. Evergrande Center for Immunologic Diseases Brigham and Women's Hospital Boston MA USA. Cardiovascular Division Department of Medicine Brigham and Women's Hospital Boston MA USA. Functional Genomics Laboratory Channing Division of Network Medicine Brigham and Women's Hospital Boston MA USA. Center for Cancer Research Massachusetts General Hospital Harvard Medical School Charlestown MA USA. Division of Nephrology and Endocrine Unit Department of Medicine Massachusetts

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genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population

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Nature communications 2023年第1期14卷 3043页

作者： Jianxin Shi Kouya Shiraishi Jiyeon Choi Keitaro Matsuo Tzu-Yu Chen Juncheng Dai Rayjean J Hung Kexin Chen Xiao-Ou Shu Young Tae Kim Maria Teresa Landi Dongxin Lin Wei Zheng Zhihua Yin Baosen Zhou Bao Song Jiucun Wang Wei Jie Seow Lei Song I-Shou Chang Wei Hu Li-Hsin Chien Qiuyin Cai Yun-Chul Hong Hee Nam Kim Yi-Long Wu Maria Pik Wong Brian Douglas Richardson Karen M Funderburk Shilan Li Tongwu Zhang Charles Breeze Zhaoming Wang Batel Blechter Bryan A Bassig Jin Hee Kim Demetrius Albanes Jason Y Y Wong Min-Ho Shin Lap Ping Chung Yang Yang She-Juan An Hong Zheng Yasushi Yatabe Xu-Chao Zhang Young-Chul Kim Neil E Caporaso Jiang Chang James Chung Man Ho Michiaki Kubo Yataro Daigo Minsun Song Yukihide Momozawa Yoichiro Kamatani Masashi Kobayashi Kenichi Okubo Takayuki Honda Dean H Hosgood Hideo Kunitoh Harsh Patel Shun-Ichi Watanabe Yohei Miyagi Haruhiko Nakayama Shingo Matsumoto Hidehito Horinouchi Masahiro Tsuboi Ryuji Hamamoto Koichi Goto Yuichiro Ohe Atsushi Takahashi Akiteru Goto Yoshihiro Minamiya Megumi Hara Yuichiro Nishida Kenji Takeuchi Kenji Wakai Koichi Matsuda Yoshinori Murakami Kimihiro Shimizu Hiroyuki Suzuki Motonobu Saito Yoichi Ohtaki Kazumi Tanaka Tangchun Wu Fusheng Wei Hongji Dai Mitchell J Machiela Jian Su Yeul Hong Kim In-Jae Oh Victor Ho Fun Lee Gee-Chen Chang Ying-Huang Tsai Kuan-Yu Chen Ming-Shyan Huang Wu-Chou Su Yuh-Min Chen Adeline Seow Jae Yong Park Sun-Seog Kweon Kun-Chieh Chen Yu-Tang Gao Biyun Qian Chen Wu Daru Lu Jianjun Liu Ann G Schwartz Richard Houlston Margaret R Spitz Ivan P Gorlov Xifeng Wu Ping Yang Stephen Lam Adonina Tardon Chu Chen Stig E Bojesen Mattias Johansson Angela Risch Heike Bickeböller Bu-Tian Ji H-Erich Wichmann David C Christiani Gadi Rennert Susanne Arnold Paul Brennan James McKay John K Field Sanjay S Shete Loic Le Marchand Geoffrey Liu Angeline Andrew Lambertus A Kiemeney Shan Zienolddiny-Narui Kjell Grankvist Mikael Johansson Angela Cox Fiona Taylor Jian-Min Yuan Philip Lazarus Matthew B Schabath Melinda C Aldrich Hyo-Sung Jeon Shih Sheng Jiang Jae Sook Sung C Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA. jianxin.shi@nih.gov. Division of Genome Biology National Cancer Research Institute Tokyo Japan. Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA. Division of Cancer Epidemiology and Prevention Aichi Cancer Center Research Institute Nagoya Japan. Institute of Population Health Sciences National Health Research Institutes Zhunan Taiwan. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Jiangsu Key Lab of Cancer Biomarkers Prevention and Treatment Collaborative Innovation Center for Cancer Medicine Nanjing Medical University Nanjing China. Prosserman Centre for Population Health Research Lunenfeld-Tanenbaum Research Institute Sinai Health Toronto ON Canada. Department of Epidemiology and Biostatistics National Clinical Research Center for Cancer Key Laboratory of Molecular Cancer Epidemiology of Tianjin Tianjin Medical University Cancer Institute and Hospital Tianjin Medical University Tianjin China. Division of Epidemiology Department of Medicine Vanderbilt University Medical Center and Vanderbilt-Ingram Cancer Center Nashville TN USA. Cancer Research Institute Seoul National University College of Medicine Seoul Republic of Korea. 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. Department of Epidemiology School of Public Health China Medical University Shenyang China. Department of Clinical Epidemiology and Center of Evidence Based Medicine The First Hospital of China Medical University Shenyang China. Department of Oncology Shandong Cancer Hospital and Institute Shandong Academy of Medical Sciences Jinan China. Ministry of Education Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai China. S

Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study of lung adenocarcinoma of East Asian ancestry (21,658 cases and 150,676 controls; 54.5% never-smokers) and identified 12 novel susceptibility variants, bringing the total number to 28 at 25 independent loci. Transcriptome-wide association analyses together with colocalization studies using a Taiwanese lung expression quantitative trait loci dataset (n = 115) identified novel candidate genes, including FADS1 at 11q12 and ELF5 at 11p13. In a multi-ancestry meta-analysis of East Asian and European studies, four loci were identified at 2p11, 4q32, 16q23, and 18q12. At the same time, most of our findings in East Asian populations showed no evidence of association in European populations. In our studies drawn from East Asian populations, a polygenic risk score based on the 25 loci had a stronger association in never-smokers vs. individuals with a history of smoking (P = 0.0058). These findings provide new insights into the etiology of lung adenocarcinoma in individuals from East Asian populations, which could be important in developing translational applications.

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