Article
Immunology
Seyma Katrinli, Yuanchao Zheng, Aarti Gautam, Rasha Hammamieh, Ruoting Yang, Suresh Venkateswaran, Varun Kilaru, Adriana Lori, Rebecca Hinrichs, Abigail Powers, Charles F. Gillespie, Aliza P. Wingo, Vasiliki Michopoulos, Tanja Jovanovic, Erika J. Wolf, Regina E. McGlinchey, William P. Milberg, Mark W. Miller, Subra Kugathasan, Marti Jett, Mark W. Logue, Kerry J. Ressler, Alicia K. Smith
Summary: The study identified two differentially methylated regions associated with PTSD, one in the gene body of HLA-DPB1 and one in the promoter of SPATC1L. These regions also showed associations with nearby sequence variations and the expression of their respective genes.
BRAIN BEHAVIOR AND IMMUNITY
(2021)
Article
Environmental Sciences
Yuan Chun Ding, Susan Hurley, June-Soo Park, Linda Steele, Michele Rakoff, Yun Zhu, Jinying Zhao, Mark LaBarge, Leslie Bernstein, Shiuan Chen, Peggy Reynolds, Susan L. Neuhausen
Summary: The study revealed associations between PBDE levels and DNA methylation, with these methylation changes being significantly associated with breast cancer risk.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Oncology
Ida K. Karlsson, Malin Ericsson, Yunzhang Wang, Juulia Jylhava, Sara Hagg, Anna K. Dahl Aslan, Chandra A. Reynolds, Nancy L. Pedersen
Summary: The study found associations between leukocyte DNA methylation and level of cognitive abilities but not with change in cognitive abilities. These associations were significantly attenuated in within-pair analyses, indicating they are influenced in part by genetic factors.
CLINICAL EPIGENETICS
(2021)
Article
Genetics & Heredity
Kai Wang, Shujie Wang, Xiang Ji, Dong Chen, Qi Shen, Yang Yu, Pingxian Wu, Xuewei Li, Guoqing Tang
Summary: This study aimed to identify CpG sites associated with DNA methylation levels and meat quality traits in Yorkshire pigs. Genome-wide methylation levels were measured using RRBS, and linear mixed-effect models were used to examine associations. Eight CpG sites were associated with drip loss, two CpG sites with yellowness, and five CpG sites with lightness. No significant associations were found with pH levels or meat redness. This study provides new insights into the epigenetic molecular mechanisms of meat quality traits in pigs.
FRONTIERS IN GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
Yan Gao, Huifang Pang, Bowang Chen, ChaoQun Wu, Yanping Wang, Libo Hou, Siming Wang, Dianjianyi Sun, Xin Zheng
Summary: This study identified novel CpGs associated with CVD development and revealed their additional predictive power in the risk of CVD for high-risk subjects.
BMC CARDIOVASCULAR DISORDERS
(2021)
Review
Chemistry, Multidisciplinary
Siyu Wei, Junxian Tao, Jing Xu, Xingyu Chen, Zhaoyang Wang, Nan Zhang, Lijiao Zuo, Zhe Jia, Haiyan Chen, Hongmei Sun, Yubo Yan, Mingming Zhang, Hongchao Lv, Fanwu Kong, Lian Duan, Ye Ma, Mingzhi Liao, Liangde Xu, Rennan Feng, Guiyou Liu, Yongshuai Jiang
Summary: EWAS has been utilized for a decade to analyze DNA methylation variation in complex diseases, and has gradually become a hot topic of current studies. The progress of EWAS research, contributions to clinical applications, achievements in typical diseases, challenges encountered, and bold predictions for future development are all discussed.
Article
Environmental Sciences
Ainash Childebayeva, Jaclyn M. Goodrich, Nathan Chesterman, Fabiola Leon-Velarde, Maria Rivera-Ch, Melisa Kiyamu, Tom D. Brutsaert, Abigail W. Bigham, Dana C. Dolinoy
Summary: The study found that individuals in Cerro de Pasco had higher levels of Pb compared to those in Lima, with males having higher levels than females. Pb was positively associated with hemoglobin, and in Cerro de Pasco, blood Pb decreased with distance from the mine. Associations were identified between Pb and specific genes related to neurological function through differential methylation analysis.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Engineering, Environmental
Xiyang Cai, Kaixuan Li, Xia Meng, Qinglin Song, Su Shi, Wenran Li, Yue Niu, Li Jin, Haidong Kan, Sijia Wang
Summary: This study is the first epigenome-wide association study on ozone exposure conducted in a large-scale Han Chinese cohort. The study identified DNA methylation changes on CpGs and regions, as well as related gene functions and pathways.
JOURNAL OF HAZARDOUS MATERIALS
(2024)
Article
Oncology
Anne K. Bozack, Sheryl L. Rifas-Shiman, Brent A. Coull, Andrea A. Baccarelli, Robert O. Wright, Chitra Amarasiriwardena, Diane R. Gold, Emily Oken, Marie-France Hivert, Andres Cardenas
Summary: This study examined the association between prenatal metal exposure and DNA methylation, revealing significant correlations between certain metals and methylation levels of specific genes in cord blood, with these associations attenuating in blood collected in mid-childhood. Additionally, differences in methylation responses to metals were observed in infants of different genders.
CLINICAL EPIGENETICS
(2021)
Review
Biochemical Research Methods
Junyan Song, Pei-Fen Kuan
Summary: This study conducted a systematic assessment of computational deconvolution methods and their role in estimating cell type proportions. The proposed framework, methylDeConv, integrates multiple deconvolution methods and allows for the construction of an extended reference library with cell-type-specific CpG selection. The study found that deconvolution based on the extended reference library is critical for accurate cell proportion estimation in non-blood tissues.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Health Care Sciences & Services
Lea Zillich, Eric Poisel, Fabian Streit, Josef Frank, Gabriel R. Fries, Jerome C. Foo, Marion M. Friske, Lea Sirignano, Anita C. Hansson, Markus M. Noethen, Stephanie H. Witt, Consuelo Walss-Bass, Rainer Spanagel, Marcella Rietschel
Summary: This study reveals the associations between tobacco smoking and DNA methylation in the brain, and identifies differentially methylated regions enriched with functions related to neuronal development, inflammatory signaling, and immune cell migration.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biochemical Research Methods
William R. P. Denault, Astanand Jugessur
Summary: This study introduces a fast functional wavelet (FFW) method, which estimates the significance of associations through simulations rather than permutations, significantly improving computational speed and demonstrating good performance in controlling errors and detecting differentially methylated regions.
BMC BIOINFORMATICS
(2021)
Article
Endocrinology & Metabolism
Nicole Lafontaine, Purdey J. Campbell, Juan E. Castillo-Fernandez, Shelby Mullin, Ee Mun Lim, Phillip Kendrew, Michelle Lewer, Suzanne J. Brown, Rae-Chi Huang, Phillip E. Melton, Trevor A. Mori, Lawrence J. Beilin, Frank Dudbridge, Tim D. Spector, Margaret J. Wright, Nicholas G. Martin, Allan F. McRae, Vijay Panicker, Gu Zhu, John P. Walsh, Jordana T. Bell, Scott G. Wilson
Summary: This study identified associations between blood-based DNAm and both fT3 and TSH, shedding light on the mechanisms underlying thyroid hormone action and/or pituitary-thyroid axis function.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Urology & Nephrology
Junyu Chen, Qin Hui, Zeyuan Wang, Francis P. Wilson, Kaku So-Armah, Matthew S. Freiberg, Amy C. Justice, Ke Xu, Wei Zhao, Farah Ammous, Jennifer A. Smith, Sharon L. R. Kardia, Marta Gwinn, Vincent C. Marconi, Yan V. Sun
Summary: People with HIV of African ancestry experience faster decline in kidney function and progression to end-stage renal disease. DNA methylation is associated with kidney function, but its relationship with PWH of African ancestry is unclear. This study identified specific DNA methylation sites related to kidney function, and these results were replicated in different populations, suggesting a common pathway for renal disease progression.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Peter Kreitmaier, Young-Chan Park, Diane Swift, Arthur Gilly, J. Mark Wilkinson, Eleftheria Zeggini
Summary: This study examines the DNA methylation profiles of infrapatellar fat pad and blood samples from osteoarthritis patients, revealing widespread epigenetic differences. The researchers produce the first genome-wide methylation quantitative trait locus map and provide insights into the molecular mechanisms of osteoarthritis.
HUMAN MOLECULAR GENETICS
(2023)
Editorial Material
Public, Environmental & Occupational Health
Jonas Bovijn, Jenny C. Censin, Cecilia M. Lindgren, Michael V. Holmes
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Endocrinology & Metabolism
Yoonjung Yoonie Joo, Ky'Era Actkins, Jennifer A. Pacheco, Anna O. Basile, Robert Carroll, David R. Crosslin, Felix Day, Joshua C. Denny, Digna R. Velez Edwards, Hakon Hakonarson, John B. Harley, Scott J. Hebbring, Kevin Ho, Gail P. Jarvik, Michelle Jones, Tugce Karaderi, Frank D. Mentch, Cindy Meun, Bahram Namjou, Sarah Pendergrass, Marylyn D. Ritchie, Ian B. Stanaway, Margrit Urbanek, Theresa L. Walunas, Maureen Smith, Rex L. Chisholm, Abel N. Kho, Lea Davis, M. Geoffrey Hayes
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2020)
Article
Endocrinology & Metabolism
Hanieh Yaghootkar, Yiying Zhang, Cassandra N. Spracklen, Tugce Karaderi, Lam Opal Huang, Jonathan Bradfield, Claudia Schurmann, Rebecca S. Fine, Michael H. Preuss, Zoltan Kutalik, Laura B. L. Wittemans, Yingchang Lu, Sophia Metz, Sara M. Willems, Ruifang Li-Gao, Niels Grarup, Shuai Wang, Sophie Molnos, America A. Sandoval-Zarate, Mike A. Nalls, Leslie A. Lange, Jeffrey Haesser, Xiuqing Guo, Leo-Pekka Lyytikainen, Mary F. Feitosa, Colleen M. Sitlani, Cristina Venturini, Anubha Mahajan, Tim Kacprowski, Carol A. Wang, Daniel I. Chasman, Najaf Amin, Linda Broer, Neil Robertson, Kristin L. Young, Matthew Allison, Paul L. Auer, Matthias Bluher, Judith B. Borja, Jette Bork-Jensen, German D. Carrasquilla, Paraskevi Christofidou, Ayse Demirkan, Claudia A. Doege, Melissa E. Garcia, Mariaelisa Graff, Kaiying Guo, Hakon Hakonarson, Jaeyoung Hong, Yii-Der Ida Chen, Rebecca Jackson, Hermina Jakupovic, Pekka Jousilahti, Anne E. Justice, Mika Kahonen, Jorge R. Kizer, Jennifer Kriebel, Charles A. LeDuc, Jin Li, Lars Lind, Jian'an Luan, David A. Mackey, Massimo Mangino, Satu Mannisto, Jayne F. Martin Carli, Carolina Medina-Gomez, Dennis O. Mook-Kanamori, Andrew P. Morris, Renee de Mutsert, Matthias Nauck, Ivana Prokic, Craig E. Pennell, Arund D. Pradhan, Bruce M. Psaty, Olli T. Raitakari, Robert A. Scott, Tea Skaaby, Konstantin Strauch, Kent D. Taylor, Alexander Teumer, Andre G. Uitterlinden, Ying Wu, Jie Yao, Mark Walker, Kari E. North, Peter Kovacs, M. Arfan Ikram, Cornelia M. van Duijn, Paul M. Ridker, Stephen Lye, Georg Homuth, Erik Ingelsson, Tim D. Spector, Barbara McKnight, Michael A. Province, Terho Lehtimaki, Linda S. Adair, Jerome I. Rotter, Alexander P. Reiner, James G. Wilson, Tamara B. Harris, Samuli Ripatti, Harald Grallert, James B. Meigs, Veikko Salomaa, Torben Hansen, Ko Willems van Dijk, Nicholas J. Wareham, Struan F. A. Grant, Claudia Langenberg, Timothy M. Frayling, Cecilia M. Lindgren, Karen L. Mohlke, Rudolph L. Leibel, Ruth J. F. Loos, Tuomas O. Kilpelainen
Article
Psychology, Biological
Gabriel Cuellar-Partida, Joyce Y. Tung, Nicholas Eriksson, Eva Albrecht, Fazil Aliev, Ole A. Andreassen, Ines Barroso, Jacques S. Beckmann, Marco P. Boks, Dorret I. Boomsma, Heather A. Boyd, Monique M. B. Breteler, Harry Campbell, Daniel I. Chasman, Lynn F. Cherkas, Gail Davies, Eco J. C. de Geus, Ian J. Deary, Panos Deloukas, Danielle M. Dick, David L. Duffy, Johan G. Eriksson, Tonu Esko, Bjarke Feenstra, Frank Geller, Christian Gieger, Ina Giegling, Scott D. Gordon, Jiali Han, Thomas F. Hansen, Annette M. Hartmann, Caroline Hayward, Kauko Heikkila, Andrew A. Hicks, Joel N. Hirschhorn, Jouke-Jan Hottenga, Jennifer E. Huffman, Liang-Dar Hwang, M. Arfan Ikram, Jaakko Kaprio, John P. Kemp, Kay-Tee Khaw, Norman Klopp, Bettina Konte, Zoltan Kutalik, Jari Lahti, Xin Li, Ruth J. F. Loos, Michelle Luciano, Sigurdur H. Magnusson, Massimo Mangino, Pedro Marques-Vidal, Nicholas G. Martin, Wendy L. McArdle, Mark I. McCarthy, Carolina Medina-Gomez, Mads Melbye, Scott A. Melville, Andres Metspalu, Lili Milani, Vincent Mooser, Mari Nelis, Dale R. Nyholt, Kevin S. O'Connell, Roel A. Ophoff, Cameron Palmer, Aarno Palotie, Teemu Palviainen, Guillaume Pare, Lavinia Paternoster, Leena Peltonen, Brenda W. J. H. Penninx, Ozren Polasek, Peter P. Pramstaller, Inga Prokopenko, Katri Raikkonen, Samuli Ripatti, Fernando Rivadeneira, Igor Rudan, Dan Rujescu, Johannes H. Smit, George Davey Smith, Jordan W. Smoller, Nicole Soranzo, Tim D. Spector, Beate St Pourcain, John M. Starr, Hreinn Stefansson, Stacy Steinberg, Maris Teder-Laving, Gudmar Thorleifsson, Kari Stefansson, Nicholas J. Timpson, Andre G. Uitterlinden, Cornelia M. van Duijn, Frank J. A. van Rooij, Jaqueline M. Vink, Peter Vollenweider, Eero Vuoksimaa, Gerard Waeber, Nicholas J. Wareham, Nicole Warrington, Dawn Waterworth, Thomas Werge, H. -Erich Wichmann, Elisabeth Widen, Gonneke Willemsen, Alan F. Wright, Margaret J. Wright, Mousheng Xu, Jing Hua Zhao, Peter Kraft, David A. Hinds, Cecilia M. Lindgren, Reedik Magi, Benjamin M. Neale, David M. Evans, Sarah E. Medland
Summary: A genome-wide association study of 1.7 million individuals identified 41 genetic variants associated with left-handedness and 7 associated with ambidexterity. The genetic correlation between the traits was low, thereby implying different aetiologies.
NATURE HUMAN BEHAVIOUR
(2021)
Article
Endocrinology & Metabolism
Tricia M. Peters, Michael V. Holmes, J. Brent Richards, Tom Palmer, Vincenzo Forgetta, Cecilia M. Lindgren, Folkert W. Asselbergs, Christopher P. Nelson, Nilesh J. Samani, Mark I. McCarthy, Anubha Mahajan, George Davey Smith, Mark Woodward, Linda M. O'Keeffe, Sanne A. E. Peters
Summary: The study found that genetic risk of type 2 diabetes affects the odds of coronary heart disease (CHD) similarly in both women and men, indicating no sex differential in the causal effect of diabetes on CHD risk. This suggests that prevention and management of type 2 diabetes for CHD risk reduction should be prioritized equally in both sexes.
Article
Multidisciplinary Sciences
Vasiliki Lagou, Reedik Maegi, Jouke- Jan Hottenga, Harald Grallert, John R. B. Perry, Nabila Bouatia-Naji, Letizia Marullo, Denis Rybin, Rick Jansen, Josine L. Min, Antigone S. Dimas, Anna Ulrich, Liudmila Zudina, Jesper R. Gadin, Longda Jiang, Alessia Faggian, Amelie Bonnefond, Joao Fadista, Maria G. Stathopoulou, Aaron Isaacs, Sara M. Willems, Pau Navarro, Toshiko Tanaka, Anne U. Jackson, May E. Montasser, Jeff R. O'Connell, Lawrence F. Bielak, Rebecca J. Webster, Richa Saxena, Jeanette M. Stafford, Beate St Pourcain, Nicholas J. Timpson, Perttu Salo, So-Youn Shin, Najaf Amin, Albert V. Smith, Guo Li, Niek Verweij, Anuj Goel, Ian Ford, Paul C. D. Johnson, Toby Johnson, Karen Kapur, Gudmar Thorleifsson, Rona J. Strawbridge, Laura J. Rasmussen-Torvik, Tonu Esko, Evelin Mihailov, Tove Fall, Ross M. Fraser, Anubha Mahajan, Stavroula Kanoni, Vilmantas Giedraitis, Marcus E. Kleber, Guenther Silbernagel, Julia Meyer, Martina Mueller-Nurasyid, Andrea Ganna, Antti-Pekka Sarin, Loic Yengo, Dmitry Shungin, Jian'an Luan, Momoko Horikoshi, Ping An, Serena Sanna, Yvonne Boettcher, N. William Rayner, Ilja M. Nolte, Tatijana Zemunik, Erik van Iperen, Peter Kovacs, Nicholas D. Hastie, Sarah H. Wild, Stela McLachlan, Susan Campbell, Ozren Polasek, Olga Carlson, Josephine Egan, Wieland Kiess, Gonneke Willemsen, Johanna Kuusisto, Markku Laakso, Maria Dimitriou, Andrew A. Hicks, Rainer Rauramaa, Stefania Bandinelli, Barbara Thorand, Yongmei Liu, Iva Miljkovic, Lars Lind, Alex Doney, Markus Perola, Aroon Hingorani, Mika Kivimaki, Meena Kumari, Amanda J. Bennett, Christopher J. Groves, Christian Herder, Heikki A. Koistinen, Leena Kinnunen, Ulf de Faire, Stephan J. L. Bakker, Matti Uusitupa, Colin N. A. Palmer, J. Wouter Jukema, Naveed Sattar, Anneli Pouta, Harold Snieder, Eric Boerwinkle, James S. Pankow, Patrik K. Magnusson, Ulrika Krus, Chiara Scapoli, Eco J. C. N. de Geus, Matthias Blueher, Bruce H. R. Wolffenbuttel, Michael A. Province, Goncalo R. Abecasis, James B. Meigs, G. Kees Hovingh, Jaana Lindstroem, James F. Wilson, Alan F. Wright, George V. Dedoussis, Stefan R. Bornstein, Peter E. H. Schwarz, Anke Toenjes, Bernhard R. Winkelmann, Bernhard O. Boehm, Winfried Maerz, Andres Metspalu, Jackie F. Price, Panos Deloukas, Antje Koerner, Timo A. Lakka, Sirkka M. Keinanen-Kiukaanniemi, Timo E. Saaristo, Richard N. Bergman, Jaakko Tuomilehto, Nicholas J. Wareham, Claudia Langenberg, Satu Maennistoe, Paul W. Franks, Caroline Hayward, Veronique Vitart, Jaakko Kaprio, Sophie Visvikis-Siest, Beverley Balkau, David Altshuler, Igor Rudan, Michael Stumvoll, Harry Campbell, Cornelia M. van Duijn, Christian Gieger, Thomas Illig, Luigi Ferrucci, Nancy L. Pedersen, Peter P. Pramstaller, Michael Boehnke, Timothy M. Frayling, Alan R. Shuldiner, Patricia A. Peyser, Sharon L. R. Kardia, Lyle J. Palmer, Brenda W. Penninx, Pierre Meneton, Tamara B. Harris, Gerjan Navis, Pim van der Harst, George Davey Smith, Nita G. Forouhi, Ruth J. F. Loos, Veikko Salomaa, Nicole Soranzo, Dorret I. Boomsma, Leif Groop, Tiinamaija Tuomi, Albert Hofman, Patricia B. Munroe, Vilmundur Gudnason, David S. Siscovick, Hugh Watkins, Cecile Lecoeur, Peter Vollenweider, Anders Franco-Cereceda, Per Eriksson, Marjo-Riitta Jarvelin, Kari Stefansson, Anders Hamsten, George Nicholson, Fredrik Karpe, Emmanouil T. Dermitzakis, Cecilia M. Lindgren, Mark I. McCarthy, Philippe Froguel, Marika A. Kaakinen, Valeriya Lyssenko, Richard M. Watanabe, Erik Ingelsson, Jose C. Florez, Josee Dupuis, Ines Barroso, Andrew P. Morris, Inga Prokopenko
Summary: Sex differences play a role in genetic effects on fasting glucose and insulin levels, with a sex dimorphism in allelic effects on fasting insulin and sex-homogeneous effects on fasting glucose. In addition, there are stronger genetic correlations between fasting insulin and waist-to-hip ratio/anorexia nervosa in women, and waist-to-hip ratio is causally related to insulin resistance in women but not in men. These findings highlight the importance of understanding metabolic and glycemic health sex dimorphism in exploring genetic effects in related phenotypes between women and men.
NATURE COMMUNICATIONS
(2021)
Article
Immunology
Tugce Karaderi, Halin Bareke, Imge Kunter, Adil Seytanoglu, Ilgin Cagnan, Deniz Balci, Burc Barin, Mevhibe B. Hocaoglu, Nilufer Rahmioglu, Esra Asilmaz, Bahar Taneri
FRONTIERS IN IMMUNOLOGY
(2020)
Article
Cell Biology
Nasa Sinnott-Armstrong, Isabel S. Sousa, Samantha Laber, Elizabeth Rendina-Ruedy, Simon E. Nitter Dankel, Teresa Ferreira, Gunnar Mellgren, David Karasik, Manuel Rivas, Jonathan Pritchard, Anyonya R. Guntur, Roger D. Cox, Cecilia M. Lindgren, Hans Hauner, Richard Sallari, Clifford J. Rosen, Yi-Hsiang Hsu, Eric S. Lander, Douglas P. Kiel, Melina Claussnitzer
Summary: The study identified a bivariate risk locus at 3q21 and prioritized a causal variant in the adenylate cyclase 5 intron, which affects lipid metabolism in bone and diabetes-relevant cells. The findings were validated through manipulation of regulator SREBP1, target gene ADCY5, and variant rs56371916, suggesting a novel link between fatty acid oxidation and osteoblast differentiation. This work represents a framework for uncovering biological mechanisms affecting pleiotropic traits through systematic functional dissection of GWAS loci.
Article
Public, Environmental & Occupational Health
Burc Barin, Banu Elcin Yoldascan, Fatma Savaskan, Goncagul Ozbalikci, Tugce Karaderi, Huseyin Cakal
Summary: The study found that individuals with severe or critical COVID-19 disease and/or comorbidities are more heavily impacted both physiologically and mentally, with higher IgG titers and negative psychological experiences. More than half of the COVID-19 cases experienced negative psychological experiences, including discrimination and verbal harassment.
FRONTIERS IN PUBLIC HEALTH
(2021)
Article
Medicine, General & Internal
Samvida S. Venkatesh, Teresa Ferreira, Stefania Benonisdottir, Nilufer Rahmioglu, Christian M. Becker, Ingrid Granne, Krina T. Zondervan, Michael V. Holmes, Cecilia M. Lindgren, Laura B. L. Wittemans
Summary: This study analyzed data on obesity and reproductive diseases in women of European ancestry and found that obesity is associated with increased risks of various reproductive disorders, including uterine fibroids, polycystic ovary syndrome, heavy menstrual bleeding, and pre-eclampsia. The study also identified associations between obesity, metabolic hormones, and reproductive diseases, and found that the relationship between obesity and reproductive disorders is influenced by genetic factors.
Article
Health Care Sciences & Services
Catherine Bjerre Collin, Tom Gebhardt, Martin Golebiewski, Tugce Karaderi, Maximilian Hillemanns, Faiz Muhammad Khan, Ali Salehzadeh-Yazdi, Marc Kirschner, Sylvia Krobitsch, Lars Kuepfer
Summary: The future development of personalized medicine depends on data exchange and analysis, and computational modeling plays a key role. However, there are challenges to implementing these models clinically, which require clear guidelines. This article discusses computational models in personalized medicine and provides relevant challenges, as well as implementation recommendations.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Multidisciplinary Sciences
Loic Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, Anders U. Eliasen, Yunxuan Jiang, Sridharan Raghavan, Jenkai Miao, Joshua D. Arias, Sarah E. Graham, Ronen E. Mukamel, Cassandra N. Spracklen, Xianyong Yin, Shyh-Huei Chen, Teresa Ferreira, Heather H. Highland, Yingjie Ji, Tugce Karaderi, Kuang Lin, Kreete Lull, Deborah E. Malden, Carolina Medina-Gomez, Moara Machado, Amy Moore, Sina Rueger, Xueling Sim, Scott Vrieze, Tarunveer S. Ahluwalia, Masato Akiyama, Matthew A. Allison, Marcus Alvarez, Mette K. Andersen, Alireza Ani, Vivek Appadurai, Liubov Arbeeva, Seema Bhaskar, Lawrence F. Bielak, Sailalitha Bollepalli, Lori L. Bonnycastle, Jette Bork-Jensen, Jonathan P. Bradfield, Yuki Bradford, Peter S. Braund, Jennifer A. Brody, Kristoffer S. Burgdorf, Brian E. Cade, Hui Cai, Qiuyin Cai, Archie Campbell, Marisa Canadas-Garre, Eulalia Catamo, Jin-Fang Chai, Xiaoran Chai, Li-Ching Chang, Yi-Cheng Chang, Chien-Hsiun Chen, Alessandra Chesi, Seung Hoan Choi, Ren-Hua Chung, Massimiliano Cocca, Maria Pina Concas, Christian Couture, Gabriel Cuellar-Partida, Rebecca Danning, E. Warwick Daw, Frauke Degenhard, Graciela E. Delgado, Alessandro Delitala, Ayse Demirkan, Xuan Deng, Poornima Devineni, Alexander Dietl, Maria Dimitriou, Latchezar Dimitrov, Rajkumar Dorajoo, Arif B. Ekici, Jorgen E. Engmann, Zammy Fairhurst-Hunter, Aliki-Eleni Farmaki, Jessica D. Faul, Juan-Carlos Fernandez-Lopez, Lukas Forer, Margherita Francescatto, Sandra Freitag-Wolf, Christian Fuchsberger, Tessel E. Galesloot, Yan Gao, Zishan Gao, Frank Geller, Olga Giannakopoulou, Franco Giulianini, Anette P. Gjesing, Anuj Goel, Scott D. Gordon, Mathias Gorski, Jakob Grove, Xiuqing Guo, Stefan Gustafsson, Jeffrey Haessler, Thomas F. Hansen, Aki S. Havulinna, Simon J. Haworth, Jing He, Nancy Heard-Costa, Prashantha Hebbar, George Hindy, Yuk-Lam A. Ho, Edith Hofer, Elizabeth Holliday, Katrin Horn, Whitney E. Hornsby, Jouke-Jan Hottenga, Hongyan Huang, Jie Huang, Alicia Huerta-Chagoya, Jennifer E. Huffman, Yi-Jen Hung, Shaofeng Huo, Mi Yeong Hwang, Hiroyuki Iha, Daisuke D. Ikeda, Masato Isono, Anne U. Jackson, Susanne Jager, Iris E. Jansen, Ingegerd Johansson, Jost B. Jonas, Anna Jonsson, Torben Jorgensen, Ioanna-Panagiota Kalafati, Masahiro Kanai, Stavroula Kanoni, Line L. Karhus, Anuradhani Kasturiratne, Tomohiro Katsuya, Takahisa Kawaguchi, Rachel L. Kember, Katherine A. Kentistou, Han-Na Kim, Young Jin Kim, Marcus E. Kleber, Maria J. Knol, Azra Kurbasic, Marie Lauzon, Phuong Le, Rodney Lea, Jong-Young Lee, Hampton L. Leonard, Shengchao A. Li, Xiaohui Li, Xiaoyin Li, Jingjing Liang, Honghuang Lin, Shih-Yi Lin, Jun Liu, Xueping Liu, Ken Sin Lo, Jirong Long, Laura Lores-Motta, Jian'an Luan, Valeriya Lyssenko, Leo-Pekka Lyytikainen, Anubha Mahajan, Vasiliki Mamakou, Massimo Mangino, Ani Manichaikul, Jonathan Marten, Manuel Mattheisen, Laven Mavarani, Aaron F. McDaid, Karina Meidtner, Tori L. Melendez, Josep M. Mercader, Yuri Milaneschi, Jason E. Miller, Iona Y. Millwood, Pashupati P. Mishra, Ruth E. Mitchell, Line T. Mollehave, Anna Morgan, Soeren Mucha, Matthias Munz, Masahiro Nakatochi, Christopher P. Nelson, Maria Nethander, Chu Won Nho, Aneta A. Nielsen, Ilja M. Nolte, Suraj S. Nongmaithem, Raymond Noordam, Ioanna Ntalla, Teresa Nutile, Anita Pandit, Paraskevi Christofidou, Katri Parna, Marc Pauper, Eva R. B. Petersen, Liselotte Petersen, Niina Pitkanen, Ozren Polasek, Alaitz Poveda, Michael H. Preuss, Saiju Pyarajan, Laura M. Raffield, Hiromi Rakugi, Julia Ramirez, Asif Rasheed, Dennis Raven, Nigel W. Rayner, Carlos Riveros, Rebecca Rohde, Daniela Ruggiero, Sanni E. Ruotsalainen, Kathleen A. Ryan, Maria Sabater-Lleal, Richa Saxena, Markus Scholz, Anoop Sendamarai, Botong Shen, Jingchunzi Shi, Jae Hun Shin, Carlo Sidore, Colleen M. Sitlani, Roderic K. C. Slieker, Roelof A. J. Smit, Albert Smith, Jennifer A. Smith, Laura J. Smyth, Lorrain E. Southam, Valgerdur Steinthorsdottir, Liang Sun, Fumihiko Takeuchi, Divyasripriyanka Tallapragada, Kent D. Taylor, Bamidele O. Tayo, Catherine Tcheandjieu, Natalie Terzikhan, Paola Tesolin, Alexander Teumer, Elizabeth Theusch, Deborah J. Thompson, Gudmar Thorleifsson, Paul R. H. J. Timmers, Stella Trompet, Constance Turman, Simona Vaccargiu, Sander W. van der Laan, Peter J. van der Most, Jan B. van Klinken, Jessica van Setten, Shefali S. Verma, Niek Verweij, Yogasudha Veturi, Carol A. Wang, Chaolong Wang, Lihua Wang, Zhe Wang, Helen R. Warren, Wen Bin Wei, Ananda R. Wickremasinghe, Matthias Wielscher, Kerri L. Wiggins, Bendik S. Winsvold, Andrew Wong, Yang Wu, Matthias Wuttke, Rui Xia, Tian Xie, Ken Yamamoto, Jingyun Yang, Jie Yao, Hannah Young, Noha A. Yousri, Lei Yu, Lingyao Zeng, Weihua Zhang, Xinyuan Zhang, Jing-Hua Zhao, Wei Zhao, Wei Zhou, Martina E. Zimmermann, Magdalena Zoledziewska, Linda S. Adair, Hieab H. H. Adams, Carlos A. Aguilar-Salinas, Fahd Al-Mulla, Donna K. Arnett, Folkert W. Asselbergs, Bjorn Olav Asvold, John Attia, Bernhard Banas, Stefania Bandinelli, David A. Bennett, Tobias Bergler, Dwaipayan Bharadwaj, Ginevra Biino, Hans Bisgaard, Eric Boerwinkle, Carsten A. Boger, Klaus Bonnelykke, Dorret Boomsma, Anders D. Borglum, Judith B. Borja, Claude Bouchard, Donald W. Bowden, Ivan Brandslund, Ben Brumpton, Julie E. Buring, Mark J. Caulfield, John C. Chambers, Giriraj R. Chandak, Stephen J. Chanock, Nish Chaturvedi, Yii-Der Ida Chen, Zhengming Chen, Ching-Yu Cheng, Ingrid E. Christophersen, Marina Ciullo, John W. Cole, Francis S. Collins, Richard S. Cooper, Miguel Cruz, Francesco Cucca, L. Adrienne Cupples, Michael J. Cutler, Scott M. Damrauer, Thomas M. Dantoft, Gert J. de Borst, Lisette C. P. G. M. de Groot, Philip L. De Jager, Dominique P. de Kleijn, H. Janaka de Silva, George Dedoussis, Anneke den Hollander, Shufa Du, Douglas F. Easton, Petra J. M. Elders, A. Heather Eliassen, Patrick T. Ellinor, Solve Elmstahl, Jeanette Erdmann, Michele K. Evans, Diane Fatkin, Bjarke Feenstra, Mary F. Feitosa, Luigi Ferrucci, Ian Ford, Myriam Fornage, Andre Franke, Paul W. Franks, Barry Freedman, Paolo Gasparini, Christian Gieger, Giorgia Girotto, Michael E. Goddard, Yvonne M. Golightly, Clicerio Gonzalez-Villalpando, Penny Gordon-Larsen, Harald Grallert, Struan F. A. Grant, Niels Grarup, Lyn Griffiths, Vilmundur Gudnason, Christopher Haiman, Hakon Hakonarson, Torben Hansen, Catharina A. Hartman, Andrew T. Hattersley, Caroline Hayward, Susan R. Heckbert, Chew-Kiat Heng, Christian Hengstenberg, Alex W. Hewitt, Haretsugu Hishigaki, Carel B. Hoyng, Paul L. Huang, Wei Huang, Steven C. Hunt, Kristian Hveem, Elina Hypponen, William G. Iacono, Sahoko Ichihara, M. Arfan Ikram, Carmen R. Isasi, Rebecca D. Jackson, Marjo-Riitta Jarvelin, Zi-Bing Jin, Karl-Heinz Jockel, Peter K. Joshi, Pekka Jousilahti, J. Wouter Jukema, Mika Kahonen, Yoichiro Kamatani, Kui Dong Kang, Jaakko Kaprio, Sharon L. R. Kardia, Fredrik Karpe, Norihiro Kato, Frank Kee, Thorsten Kessler, Amit Khera, Chiea Chuen Khor, Lambertus A. L. M. Kiemeney, Bong-Jo Kim, Eung Kweon Kim, Hyung-Lae Kim, Paulus Kirchhof, Mika Kivimaki, Woon-Puay Koh, Heikki A. Koistinen, Genovefa D. Kolovou, Jaspal S. Kooner, Charles Kooperberg, Anna Kottgen, Peter Kovacs, Adriaan Kraaijeveld, Peter Kraft, Ronald M. Krauss, Meena Kumari, Zoltan Kutalik, Markku Laakso, Leslie A. Lange, Claudia Langenberg, Lenore J. Launer, Loic Le Marchand, Hyejin Lee, Nanette R. Lee, Terho Lehtimaki, Huaixing Li, Liming Li, Wolfgang Lieb, Xu Lin, Lars Lind, Allan Linneberg, Ching-Ti Liu, Jianjun Liu, Markus Loeffler, Barry London, Steven A. Lubitz, Stephen J. Lye, David A. Mackey, Reedik Magi, Patrik K. E. Magnusson, Gregory M. Marcus, Pedro Marques Vidal, Nicholas G. Martin, Winfried Marz, Fumihiko Matsuda, Robert W. McGarrah, Matt McGue, Amy Jayne McKnight, Sarah E. Medland, Dan Mellstrom, Andres Metspalu, Braxton D. Mitchell, Paul Mitchell, Dennis O. Mook-Kanamori, Andrew D. Morris, Lorelei A. Mucci, Patricia B. Munroe, Mike A. Nalls, Saman Nazarian, Amanda E. Nelson, Matt J. Neville, Christopher Newton-Cheh, Christopher S. Nielsen, Markus M. Nothen, Claes Ohlsson, Albertine J. Oldehinkel, Lorena Orozco, Katja Pahkala, Paivi Pajukanta, Colin N. A. Palmer, Esteban J. Parra, Cristian Pattaro, Oluf Pedersen, Craig E. Pennell, Brenda W. J. H. Penninx, Louis Perusse, Annette Peters, Patricia A. Peyser, David J. Porteous, Danielle Posthuma, Chris Power, Peter P. Pramstaller, Michael A. Province, Qibin Qi, Jia Qu, Daniel J. Rader, Olli T. Raitakari, Sarju Ralhan, Loukianos S. Rallidis, Dabeeru C. Rao, Susan Redline, Dermot F. Reilly, Alexander P. Reiner, Sang Youl Rhee, Paul M. Ridker, Michiel Rienstra, Samuli Ripatti, Marylyn D. Ritchie, Dan M. Roden, Frits R. Rosendaal, Jerome Rotter, Igor Rudan, Femke Rutters, Charumathi Sabanayagam, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Dharambir K. Sanghera, Naveed Sattar, Borge Schmidt, Helena Schmidt, Reinhold Schmidt, Matthias B. Schulze, Heribert Schunkert, Laura J. Scott, Rodney J. Scott, Peter Sever, Eric J. Shiroma, M. Benjamin Shoemaker, Xiao-Ou Shu, Eleanor M. Simonsick, Mario Sims, Jai Rup Singh, Andrew B. Singleton, Moritz F. Sinner, J. Gustav Smith, Harold Snieder, Tim D. Spector, Meir J. Stampfer, Klaus J. Stark, David P. Strachan, Leen M. t' Hart, Yasuharu Tabara, Hua Tang, Jean-Claude Tardif, Thangavel A. Thanaraj, Nicholas J. Timpson, Anke Tonjes, Angelo Tremblay, Tiinamaija Tuomi, Jaakko Tuomilehto, Maria-Teresa Tusie-Luna, Andre G. Uitterlinden, Rob M. van Dam, Pim van der Harst, Nathalie Van der Velde, Cornelia M. van Duijn, Natasja M. van Schoor, Veronique Vitart, Uwe Volker, Peter Vollenweider, Henry Volzke, Niels H. Wacher-Rodarte, Mark Walker, Ya Xing Wang, Nicholas J. Wareham, Richard M. Watanabe, Hugh Watkins, David R. Weir, Thomas M. Werge, Elisabeth Widen, Lynne R. Wilkens, Gonneke Willemsen, Walter C. Willett, James F. Wilson, Tien-Yin Wong, Jeong-Taek Woo, Alan F. Wright, Jer-Yuarn Wu, Huichun Xu, Chittaranjan S. Yajnik, Mitsuhiro Yokota, Jian-Min Yuan, Eleftheria Zeggini, Babette S. Zemel, Wei Zheng, Xiaofeng Zhu, Joseph M. Zmuda, Alan B. Zonderman, John-Anker Zwart, Daniel Chasman, Yoon Shin Cho, Iris M. Heid, Mark McCarthy, Maggie C. Y. Ng, Christopher J. O'Donnell, Fernando Rivadeneira, Unnur Thorsteinsdottir, Yan Sun, E. Shyong Tai, Michael Boehnke, Panos Deloukas, Anne E. Justice, Cecilia M. Lindgren, Ruth J. F. Loos, Karen L. Mohlke, Kari E. North, Kari Stefansson, Robin G. Walters, Thomas W. Winkler, Kristin L. Young, Po-Ru Loh, Jian Yang, Tonu Esko, Themistocles L. Assimes, Adam Auton, Goncalo R. Abecasis, Cristen J. Willer, Adam E. Locke, Sonja Berndt, Guillaume Lettre, Timothy M. Frayling, Yukinori Okada, Andrew R. Wood, Peter M. Visscher, Joel N. Hirschhorn
Summary: A large genome-wide association study of more than 5 million individuals reveals that 12,111 independent SNPs account for nearly all the heritability of height attributable to common genetic variants. These SNPs are clustered within non-overlapping genomic segments and the phenotypic variance explained varies across populations.
Article
Multidisciplinary Sciences
Andrew A. Brown, Juan A. Fernandez-Tajes, Mun-gwan W. Hong, Caroline A. Brorsson, Robert W. Koivula, David Davtian, Theo Dupuis, Ambra M. Sartori, Theodora-Dafni Michalettou, Ian H. Forgie, Jonathan Adam, Kristine Allin, Robert Caiazzo, Henna Cederberg, Federico N. De Masi, Petra J. M. Elders, Giuseppe Giordano, Mark Haid, Torben Hansen, Tue H. Hansen, Andrew T. Hattersley, Alison G. Heggie, Cedric Howald, Angus G. Jones, Tarja Kokkola, Markku Laakso, Anubha Mahajan, Andrea Mari, Timothy J. McDonald, Donna McEvoy, Miranda Mourby, Petra B. Musholt, Birgitte Nilsson, Francois Pattou, Deborah Penet, Violeta Raverdy, Martin Ridderstrale, Luciana Romano, Femke Rutters, Sapna Sharma, Harriet D. Teare, Leen 't Hart, Konstantinos D. Tsirigos, Jagadish Vangipurapu, Henrik Vestergaard, Soren Brunak, Paul Franks, Gary Frost, Harald I. Grallert, Bernd Jablonka, Mark McCarthy, Imre Pavo, Oluf Pedersen, Hartmut Ruetten, Mark Walker, Jerzy Adamski, Jochen M. Schwenk, Ewan R. Pearson, Emmanouil T. Dermitzakis, Ana Vinuela, Kofi Adragni, Rosa Lundbye L. A. Allesoe, Anna Artati, Manimozhiyan Arumugam, Naeimeh Atabaki-Pasdar, Tania Baltauss, Karina Banasik, Anna L. Barnett, Patrick Baum, Jimmy D. Bell, Joline B. Beulens, Susanna Bianzano, Roberto Bizzotto, Amelie Bonnefond, Louise Cabrelli, Matilda Dale, Adem Y. Dawed, Nathalie de Preville, Koen F. Dekkers, Harshal A. Deshmukh, Christiane Dings, Louise Donnelly, Avirup Dutta, Beate Ehrhardt, Line Engelbrechtsen, Rebeca Eriksen, Yong Fan, Jorge Ferrer, Hugo Fitipaldi, Annemette Forman, Andreas Fritsche, Philippe Froguel, Johann Gassenhuber, Stephen Gough, Ulrike Graefe-Mody, Rolf Grempler, Lenka Groeneveld, Leif Groop, Valborg Gudmundsdottir, Ramneek Gupta, Anita M. H. Hennige, Anita V. Hill, Reinhard W. Holl, Michelle Hudson, Ulrik Plesner Jacobsen, Christopher Jennison, Joachim Johansen, Anna Jonsson, Tugce Karaderi, Jane Kaye, Gwen Kennedy, Maria Klintenberg, Teemu Kuulasmaa, Thorsten Lehr, Heather Loftus, Agnete Troen T. Lundgaard, Gianluca Mazzoni, Nicky McRobert, Ian McVittie, Rachel Nice, Claudia Nicolay, Giel N. Nijpels, Colin K. Palmer, Helle H. Pedersen, Mandy H. Perry, Hugo Pomares-Millan, Cornelia P. Prehn, Anna Ramisch, Simon Rasmussen, Neil Robertson, Marianne Rodriquez, Peter Sackett, Nina Scherer, Nisha Shah, Iryna Sihinevich, Roderick C. Slieker, Nadja B. Sondertoft, Birgit Steckel-Hamann, Melissa K. Thomas, Cecilia Engel E. Thomas, Elizabeth Louise L. Thomas, Barbara Thorand, Claire E. Thorne, Joachim Tillner, Andrea Tura, Mathias Uhlen, Nienke van Leeuwen, Sabine van Oort, Helene Verkindt, Josef Vogt, Peter W. Wad Sackett, Agata Wesolowska-Andersen, Brandon Whitcher, Margaret W. White
Summary: This study integrates local and distal genetic associations with multi-omics datasets to provide a roadmap for understanding the underlying mechanisms of GWAS variants on complex traits.
NATURE COMMUNICATIONS
(2023)