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Results: 29
Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.
Sjur Reppe, Yunpeng Wang, Wesley K Thompson, Linda K McEvoy, Andrew J Schork, Verena Zuber, Marissa LeBlanc, Francesco Bettella, Ian G Mills, Rahul S Desikan, Srdjan Djurovic, Kaare M Gautvik, Anders M Dale, Ole A Andreassen, GEFOS Consortium
Mar 11, 2019
Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but...
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.
Anna L Swan, Christine Schütt, Jan Rozman, Maria Del Mar Muñiz Moreno, Stefan Brandmaier, Michelle Simon, Stefanie Leuchtenberger, Mark Griffiths, Robert Brommage, Piia Keskivali-Bond, Harald Grallert, Thomas Werner, Raffaele Teperino, Lore Becker, Gregor Miller, Ala Moshiri, John R Seavitt, Derek D Cissell, Terrence F Meehan, Elif F Acar, Christopher J Lelliott, Ann M Flenniken, Marie-France Champy, Tania Sorg, Abdel Ayadi, Robert E Braun, Heather Cater, Mary E Dickinson, Paul Flicek, Juan Gallegos, Elena J Ghirardello, Jason D Heaney, Sylvie Jacquot, Connor Lally, John G Logan, Lydia Teboul, Jeremy Mason, Nadine Spielmann, Colin McKerlie, Stephen A Murray, Lauryl MJ Nutter, Kristian F Odfalk, Helen Parkinson, Jan Prochazka, Corey L Reynolds, Mohammed Selloum, Frantisek Spoutil, Karen L Svenson, Taylor S Vales, Sara E Wells, Jacqueline K White, Radislav Sedlacek, Wolfgang Wurst, KC Kent Lloyd, Peter I Croucher, Helmut Fuchs, Graham R Williams, JH Duncan Bassett, Valerie Gailus-Durner, Yann Herault, Ann-Marie Mallon, Steve DM Brown, Philipp Mayer-Kuckuk, Martin Hrabe de Angelis, IMPC Consortium
Feb 08, 2021
The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that is...
IMPC Consortium Osteoclasts Osteoblasts Animals Mice Transgenic Mice Osteoporosis Gene Expression Regulation Sex Characteristics Bone Density Genotype Phenotype Mutation Female Male Promoter Regions Genetic Genome-Wide Association Study Genetic Pleiotropy Transcriptome Protein Interaction Maps Gene Ontology
Antagonistic pleiotropy in mice carrying a CAG repeat expansion in the range causing Huntington's disease.
Antagonist pleiotropy, where a gene exerts a beneficial effect at early stages and a deleterious effect later on in an animal's life, may explain the evolutionary persistence of devastating genetic diseases such as Huntington's...
Structure and efflux mechanism of the yeast pleiotropic drug resistance transporter Pdr5.
Andrzej Harris, Manuel Wagner, Dijun Du, Stefanie Raschka, Lea-Marie Nentwig, Holger Gohlke, Sander HJ Smits, Ben F Luisi, Lutz Schmitt
Nov 05, 2021
A robust and efficient method for Mendelian randomization with hundreds of genetic variants.
Mendelian randomization (MR) is an epidemiological technique that uses genetic variants to distinguish correlation from causation in observational data. The reliability of a MR investigation depends on the validity of the...
Body Mass Index Cholesterol HDL Cholesterol LDL Coronary Disease Diabetes mellitus Type 2 Genetic Association Studies Genetic Pleiotropy Genetic Predisposition to Disease genetic variation Humans Mendelian Randomization Analysis Models Genetic molecular epidemiology Phenotype Reproducibility of Results Research Design Risk Factors Triglycerides
A cross-platform approach identifies genetic regulators of human metabolism and health.
Luca A Lotta, Maik Pietzner, Isobel D Stewart, Laura BL Wittemans, Chen Li, Roberto Bonelli, Johannes Raffler, Emma K Biggs, Clare Oliver-Williams, Victoria PW Auyeung, Jian'an Luan, Eleanor Wheeler, Ellie Paige, Praveen Surendran, Gregory A Michelotti, Robert A Scott, Stephen Burgess, Verena Zuber, Eleanor Sanderson, Albert Koulman, Fumiaki Imamura, Nita G Forouhi, Kay-Tee Khaw, MacTel Consortium, Julian L Griffin, Angela M Wood, Gabi Kastenmüller, John Danesh, Adam S Butterworth, Fiona M Gribble, Frank Reimann, Melanie Bahlo, Eric Fauman, Nicholas J Wareham, Claudia Langenberg
Jan 12, 2021
In cross-platform analyses of 174 metabolites, we identify 499 associations (P < 4.9 × 10-10) characterized by pleiotropy, allelic heterogeneity, large and nonlinear effects and enrichment for nonsynonymous variation. We...
Diabetes mellitus Type 2 Eye Diseases Gene Frequency Genetic Loci Genetic Pleiotropy Genome Human Glucagon-Like Peptide-2 Receptor Glycine HEALTH Humans Linear Models Mendelian Randomization Analysis metabolism metabolism Inborn Errors Metabolome Mutation Missense Phenotype Polymorphism Single Nucleotide Retinal Telangiectasis Sample Size Serine
An efficient and robust approach to Mendelian randomization with measured pleiotropic effects in a high-dimensional setting.
Valid estimation of a causal effect using instrumental variables requires that all of the instruments are independent of the outcome conditional on the risk factor of interest and any confounders. In Mendelian randomization...
Structure and efflux mechanism of the yeast pleiotropic drug resistance transporter Pdr5.
Andrzej Harris, Manuel Wagner, Dijun Du, Stefanie Raschka, Lea-Marie Nentwig, Holger Gohlke, Sander H J Smits, Ben F Luisi, Lutz Schmitt
Oct 08, 2021
Pdr5, a member of the extensive ABC transporter superfamily, is representative of a clinically relevant subgroup involved in pleiotropic drug resistance. Pdr5 and its homologues drive drug efflux through uncoupled hydrolysis of...
Vanadates Rhodamines ATP-Binding Cassette Transporters Saccharomyces cerevisiae Proteins Adenosine Triphosphate detergents Cryoelectron Microscopy Drug Resistance Fungal Catalytic Domain Protein Conformation Hydrolysis Mutation Genetic Pleiotropy Protein Domains
Published by: Nature Communications
Bayesian variable selection with a pleiotropic loss function in Mendelian randomization.
Mendelian randomization is the use of genetic variants as instruments to assess the existence of a causal relationship between a risk factor and an outcome. A Mendelian randomization analysis requires a set of genetic variants...
Mendelian randomization with invalid instruments
MR-Egger test Mendelian randomization invalid instruments Meta-Analysis pleiotropy small study bias Bias blood pressure Body Height Causality Coronary Artery Disease Genetic Pleiotropy genetic variation Humans Mendelian Randomization Analysis Meta-Analysis as Topic Models Biological Regression Analysis Respiration Risk Assessment Statistics as Topic
BMI as a Modifiable Risk Factor for Type 2 Diabetes
Laura J Corbin, Rebecca C Richmond, Kaitlin H Wade, Stephen Burgess, Jack Bowden, George Davey Smith, Nicholas J Timpson
Aug 17, 2016
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Stavroula Kanoni, Sarah E Graham, Yuxuan Wang, Ida Surakka, Shweta Ramdas, Xiang Zhu, Shoa L Clarke, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W Winkler, Adam E Locke, Eirini Marouli, Greg JM Zajac, Kuan-Han H Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M Brumpton, Humaira Rasheed, Aki S Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A Rosenthal, Todd Lingren, Qiping Feng, Iftikhar J Kullo, Akira Narita, Jun Takayama, Hilary C Martin, Karen A Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E Miller, Archie Campbell, Kuang Lin, Iona Y Millwood, Asif Rasheed, George Hindy, Jessica D Faul, Wei Zhao, David R Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R Brown, Weihua Zhang, Ketian Yu, Ellen M Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian'an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R Wood, Yingji Ji, Zishan Gao, Simon Haworth, Noha A Yousri, Ruth E Mitchell, Jin Fang Chai, Mette Aadahl, Anne A Bjerregaard, Jie Yao, Ani Manichaikul, Chii-Min Hwu, Yi-Jen Hung, Helen R Warren, Julia Ramirez, Jette Bork-Jensen, Line L Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T Møllehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E Galesloot, Jonathan P Bradfield, Sanni E Ruotsalainen, EWarwick Daw, Joseph M Zmuda, Jonathan S Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A Brody, Miguel Vazquez-Moreno, Mary F Feitosa, Mary K Wojczynski, Zhe Wang, Michael H Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W Benjamins, Jorgen Engmann, Noah L Tsao, Anurag Verma, Roderick C Slieker, Ken Sin Lo, Nuno R Zilhao, Phuong Le, Marcus E Kleber, Graciela E Delgado, Shaofeng Huo, Daisuke D Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Ayşe Demirkan, Hampton L Leonard, Jonathan Marten, Mirjam Frank, Börge Schmidt, Laura J Smyth, Marisa Cañadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kähönen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Suraj S Nongmaithem, Swati Bayyana, Heather M Stringham, Marguerite R Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul RHJ Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A Lange, Gauri Prasad, Laura Lorés-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C Warner, Ya Xing Wang, Wen B Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A Kentistou, Bernhard Banas, Giuseppe Giovanni Nardone, Karina Meidtner, Lawrence F Bielak, Jennifer A Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Maria Pina Concas, Simona Vaccargiu, Peter J van der Most, Niina Pitkänen, Brian E Cade, Sander W van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Amy R Bentley, Ayo P Doumatey, Adebowale A Adeyemo, Jong Young Lee, Eva Rb Petersen, Aneta A Nielsen, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W Rayner, Carol A Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikäinen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hidalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O Obura, Jessica van Setten, Xiaoyin Li, Jingjing Liang, Hua Tang, Natalie Terzikhan, Jae Hun Shin, Rebecca D Jackson, Alexander P Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Takahisa Kawaguchi, Joachim Thiery, Joshua C Bis, Lenore J Launer, Huaixing Li, Mike A Nalls, Olli T Raitakari, Sahoko Ichihara, Sarah H Wild, Christopher P Nelson, Harry Campbell, Susanne Jäger, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Dominique de Kleijn, Gert J de Borst, Eung Kweon Kim, Hieab HH Adams, M Arfan Ikram, Xiaofeng Zhu, Folkert W Asselbergs, Adriaan O Kraaijeveld, Joline WJ Beulens, Xiao-Ou Shu, Loukianos S Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W Hewitt, Mika Kähönen, Louis Pérusse, Claude Bouchard, Anke Tönjes, Yii-Der Ida Chen, Craig E Pennell, Trevor A Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellström, Yoon Shin Cho, HyeJin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M Heid, Klaus J Stark, Martina E Zimmermann, Henry Völzke, Georg Homuth, Michele K Evans, Alan B Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E Hoefer, Susan Redline, Katja Pahkala, Albertine J Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Sharon LR Kardia, Patricia A Peyser, Norihiro Kato, Matthias B Schulze, Giorgia Girotto, Carsten A Böger, Bettina Jung, Peter K Joshi, David A Bennett, Philip L De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J Caulfield, Patricia B Munroe, Xiuqing Guo, Marina Ciullo, Jost B Jonas, Nilesh J Samani, Jaakko Kaprio, Päivi Pajukanta, Teresa Tusié-Luna, Carlos A Aguilar-Salinas, Linda S Adair, Sonny Augustin Bechayda, H Janaka de Silva, Ananda R Wickremasinghe, Ronald M Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke Iden Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G Wilson, Lars Lind, Chew-Kiat Heng, Amanda E Nelson, Yvonne M Golightly, James F Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J Scott, DC Rao, Donna K Arnett, Steven C Hunt, Mark Walker, Heikki A Koistinen, Giriraj R Chandak, Josep M Mercader, Maria C Costanzo, Dongkeun Jang, Noël P Burtt, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, EShyong Tai, Rob M van Dam, Terho Lehtimäki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jöckel, Mark I McCarthy, Colin NA Palmer, Veronique Vitart, Caroline Hayward, Eleanor Simonsick, Cornelia M van Duijn, Zi-Bing Jin, Jia Qu, Haretsugu Hishigaki, Xu Lin, Winfried März, Vilmundur Gudnason, Jean-Claude Tardif, Guillaume Lettre, Leen M 't Hart, Petra JM Elders, Scott M Damrauer, Meena Kumari, Mika Kivimaki, Pim van der Harst, Tim D Spector, Ruth JF Loos, Michael A Province, Esteban J Parra, Miguel Cruz, Bruce M Psaty, Ivan Brandslund, Peter P Pramstaller, Charles N Rotimi, Kaare Christensen, Samuli Ripatti, Elisabeth Widén, Hakon Hakonarson, Struan FA Grant, Lambertus ALM Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W Franks, Allan Linneberg, J Wouter Jukema, Amit V Khera, Minna Männikkö, Marjo-Riitta Jarvelin, Zoltan Kutalik, Cucca Francesco, Dennis O Mook-Kanamori, Ko Willems van Dijk, Hugh Watkins, David P Strachan, Niels Grarup, Peter Sever, Neil Poulter, Lee-Ming Chuang, Jerome I Rotter, Thomas M Dantoft, Fredrik Karpe, Matt J Neville, Nicholas J Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Hengtong Li, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T Hattersley, Nancy L Pedersen, Patrik KE Magnusson, Dorret I Boomsma, Allegonda HM Willemsen, LAdrienne Cupples, Joyce BJ van Meurs, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J Wareham, Claudia Langenberg, Eleftheria Zeggini, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C Chambers, Jaspal S Kooner, Paul S de Vries, Alanna C Morrison, Scott Hazelhurst, Michèle Ramsay, Kari E North, Martha Daviglus, Peter Kraft, Nicholas G Martin, John B Whitfield, Shahid Abbas, Danish Saleheen, Robin G Walters, Michael V Holmes, Corri Black, Blair H Smith, Aris Baras, Anne E Justice, Julie E Buring, Paul M Ridker, Daniel I Chasman, Charles Kooperberg, Gen Tamiya, Masayuki Yamamoto, David A van Heel, Richard C Trembath, Wei-Qi Wei, Gail P Jarvik, Bahram Namjou, M Geoffrey Hayes, Marylyn D Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjørn Olav Åsvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Bong-Jo Kim, Unnur Thorsteinsdottir, Kari Stefansson, Jifeng Zhang, YEugene Chen, Yuk-Lam Ho, Julie A Lynch, Daniel J Rader, Philip S Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J O'Donnell, John M Gaziano, Peter WF Wilson, Timothy M Frayling, Joel N Hirschhorn, Sekar Kathiresan, Karen L Mohlke, Yan V Sun, Andrew P Morris, Michael Boehnke, Christopher D Brown, Pradeep Natarajan, Panos Deloukas, Cristen J Willer, Themistocles L Assimes, Gina M Peloso
Jan 27, 2023
BACKGROUND: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of...
Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy.
Artika P Nath, Scott C Ritchie, Nastasiya F Grinberg, Howard Ho-Fung Tang, Qin Qin Huang, Shu Mei Teo, Ari V Ahola-Olli, Peter Würtz, Aki S Havulinna, Kristiina Santalahti, Niina Pitkänen, Terho Lehtimäki, Mika Kähönen, Leo-Pekka Lyytikäinen, Emma Raitoharju, Ilkka Seppälä, Antti-Pekka Sarin, Samuli Ripatti, Aarno Palotie, Markus Perola, Jorma S Viikari, Sirpa Jalkanen, Mikael Maksimow, Marko Salmi, Chris Wallace, Olli T Raitakari, Veikko Salomaa, Gad Abraham, Johannes Kettunen, Michael Inouye
Oct 04, 2019
GWAS blood cell traits cardiometabolic diseases colocalisation analysis Cytokines eQTLs metabolites Multivariate Analysis protein QTLs Adolescent Adult Aged Biomarkers Blood Proteins Cardiovascular Diseases Child Cytokines Female Follow-Up Studies Gene Regulatory Networks Genetic Pleiotropy Genetic Predisposition to Disease Genome Human Genome-Wide Association Study Humans Longitudinal Studies Male Middle Aged Polymorphism Single Nucleotide Prognosis Prospective Studies Quantitative Trait Loci Young Adult
Profile-likelihood Bayesian model averaging for two-sample summary data Mendelian randomization in the presence of horizontal pleiotropy.
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
Jimmy Z Liu, Johannes Roksund Hov, Trine Folseraas, Eva Ellinghaus, Simon M Rushbrook, Nadezhda T Doncheva, Ole A Andreassen, Rinse K Weersma, Tobias J Weismüller, Bertus Eksteen, Pietro Invernizzi, Gideon M Hirschfield, Daniel Nils Gotthardt, Albert Pares, David Ellinghaus, Tejas Shah, Brian D Juran, Piotr Milkiewicz, Christian Rust, Christoph Schramm, Tobias Müller, Brijesh Srivastava, Georgios Dalekos, Markus M Nöthen, Stefan Herms, Juliane Winkelmann, Mitja Mitrovic, Felix Braun, Cyriel Y Ponsioen, Peter JP Croucher, Martina Sterneck, Andreas Teufel, Andrew L Mason, Janna Saarela, Virpi Leppa, Ruslan Dorfman, Domenico Alvaro, Annarosa Floreani, Suna Onengut-Gumuscu, Stephen S Rich, Wesley K Thompson, Andrew J Schork, Sigrid Næss, Ingo Thomsen, Gabriele Mayr, Inke R König, Kristian Hveem, Isabelle Cleynen, Javier Gutierrez-Achury, Isis Ricaño-Ponce, David van Heel, Einar Björnsson, Richard N Sandford, Peter R Durie, Espen Melum, Morten H Vatn, Mark S Silverberg, Richard H Duerr, Leonid Padyukov, Stephan Brand, Miquel Sans, Vito Annese, Jean-Paul Achkar, Kirsten Muri Boberg, Hanns-Ulrich Marschall, Olivier Chazouillères, Christopher L Bowlus, Cisca Wijmenga, Erik Schrumpf, Severine Vermeire, Mario Albrecht, UK-PSCSC Consortium, John D Rioux, Graeme Alexander, Annika Bergquist, Judy Cho, Stefan Schreiber, Michael P Manns, Martti Färkkilä, Anders M Dale, Roger W Chapman, Konstantinos N Lazaridis, International PSC Study Group, Andre Franke, Carl A Anderson, Tom H Karlsen, International IBD Genetics Consortium
Feb 05, 2021
Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European...
Mendelian randomisation study of smoking exposure in relation to breast cancer risk.
Hanla A Park, Sonja Neumeyer, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Adinda Baten, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Sara Y Brucker, Barbara Burwinkel, Daniele Campa, Federico Canzian, Jose E Castelao, Stephen J Chanock, Georgia Chenevix-Trench, Christine L Clarke, NBCS Collaborators, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Isabel dos-Santos-Silva, Miriam Dwek, Diana M Eccles, A Heather Eliassen, Christoph Engel, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Henrik Flyger, Lin Fritschi, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Graham G Giles, Gord Glendon, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mervi Grip, Pascal Guénel, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Sileny Han, Elaine F Harkness, Steven N Hart, Wei He, Bernadette AM Heemskerk-Gerritsen, John L Hopper, David J Hunter, ABCTB Investigators, kConFab Investigators, Agnes Jager, Anna Jakubowska, Esther M John, Audrey Jung, Rudolf Kaaks, Pooja Middha Kapoor, Renske Keeman, Elza Khusnutdinova, Cari M Kitahara, Linetta B Koppert, Stella Koutros, Vessela N Kristensen, Allison W Kurian, James Lacey, Diether Lambrechts, Loic Le Marchand, Wing-Yee Lo, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Maria Elena Martinez, Dimitrios Mavroudis, Alfons Meindl, Usha Menon, Roger L Milne, Taru A Muranen, Heli Nevanlinna, William G Newman, Børge G Nordestgaard, Kenneth Offit, Andrew F Olshan, Håkan Olsson, Tjoung-Won Park-Simon, Paolo Peterlongo, Julian Peto, Dijana Plaseska-Karanfilska, Nadege Presneau, Paolo Radice, Gad Rennert, Hedy S Rennert, Atocha Romero, Emmanouil Saloustros, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Minouk J Schoemaker, Lukas Schwentner, Christopher Scott, Mitul Shah, Xiao-Ou Shu, Jacques Simard, Ann Smeets, Melissa C Southey, John J Spinelli, Victoria Stevens, Anthony J Swerdlow, Rulla M Tamimi, William J Tapper, Jack A Taylor, Mary Beth Terry, Ian Tomlinson, Melissa A Troester, Thérèse Truong, Celine M Vachon, Elke M van Veen, Joseph Vijai, Sophia Wang, Camilla Wendt, Robert Winqvist, Alicja Wolk, Argyrios Ziogas, Alison M Dunning, Paul DP Pharoah, Douglas F Easton, Wei Zheng, Peter Kraft, Jenny Chang-Claude
Aug 20, 2021
BACKGROUND: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. METHODS: We...
Urinary Albumin, Sodium, and Potassium and Cardiovascular Outcomes in the UK Biobank
Daniela Zanetti, Helene Bergman, Stephen Burgess, Themistocles L Assimes, Vivek Bhalla, Erik Ingelsson
Feb 10, 2020
Urinary biomarkers are associated with cardiovascular disease, but the nature of these associations is not well understood. We performed multivariable-adjusted regression models to assess associations of random spot measurements...
blood pressure Cardiovascular Diseases Coronary Artery Disease Heart Failure type 2 diabetes mellitus Adiposity Adult Aged Albuminuria Biomarkers Cardiovascular Diseases Causality Comorbidity Confounding Factors Epidemiologic Diabetes mellitus Type 2 Dyslipidemias Female Follow-Up Studies Genetic Pleiotropy Genome-Wide Association Study Humans Kidney Diseases Longitudinal Studies Male Middle Aged Polymorphism Single Nucleotide Potassium Proportional Hazards Models Risk Factors sodium United Kingdom
Pleiotropy robust methods for multivariable Mendelian randomization.
Mendelian randomization is a powerful tool for inferring the presence, or otherwise, of causal effects from observational data. However, the nature of genetic variants is such that pleiotropy remains a barrier to valid causal...
Modal-based estimation via heterogeneity-penalized weighting
BACKGROUND: A robust method for Mendelian randomization does not require all genetic variants to be valid instruments to give consistent estimates of a causal parameter. Several such methods have been developed, including a...
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
David L Duffy, Gu Zhu, Xin Li, Marianna Sanna, Mark M Iles, Leonie C Jacobs, David M Evans, Seyhan Yazar, Jonathan Beesley, Matthew H Law, Peter Kraft, Alessia Visconti, John C Taylor, Fan Lui, Margaret J Wright, Anjali K Henders, Lisa Bowdler, Dan Glass, Arfan M Ikram, André G Uitterlinden, Pamela A Madden, Andrew C Heath, Elliot C Nelson, Adele C Green, Stephen Chanock, Jennifer H Barrett, Matthew A Brown, Nicholas K Hayward, Stuart MacGregor, Richard A Sturm, Alex W Hewitt, Melanoma GWAS Consortium, Manfred Kayser, David J Hunter, Julia A Newton Bishop, Timothy D Spector, Grant W Montgomery, David A Mackey, George Davey Smith, Tamar E Nijsten, D Timothy Bishop, Veronique Bataille, Mario Falchi, Jiali Han, Nicholas G Martin
Jan 31, 2019
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We...
Carrier Proteins Cytochrome P-450 CYP1B1 Genetic Pleiotropy Genetic Predisposition to Disease Genome-Wide Association Study Group VI Phospholipases A2 Guanine Nucleotide Exchange Factors Histone Deacetylases Humans Interferon Regulatory Factors Melanoma MicroRNAs Microfilament Proteins Nerve Tissue Proteins Nevus Pigmented Nuclear Proteins Polymorphism Single Nucleotide RNA RNA-Binding Proteins Receptors G-Protein-Coupled Repressor Proteins Skin Neoplasms Stem Cell Factor Telomerase Telomere-Binding Proteins White People
Multivariable Mendelian randomization
Mendelian randomization causal inference Epidemiologic Methods instrumental variables lipid fractions pleiotropy Biomarkers Causality Cholesterol HDL Cholesterol LDL Coronary Disease Genetic Pleiotropy genetic variation Humans Mathematical Computing Mendelian Randomization Analysis Models Genetic Predictive Value of Tests Risk Factors Sensitivity and Specificity Triglycerides United Kingdom
Association of genetically predicted testosterone with thromboembolism, heart failure, and myocardial infarction
OBJECTIVE: To determine whether endogenous testosterone has a causal role in thromboembolism, heart failure, and myocardial infarction. DESIGN: Two sample mendelian randomisation study using genetic variants as instrumental...
Adult Aged Biological Specimen Banks Female Genetic Pleiotropy genetic variation Genome-Wide Association Study Heart Failure Humans Male Mendelian Randomization Analysis Middle Aged Myocardial Infarction Odds Ratio Randomized Controlled Trials as Topic Risk Factors Testosterone Thromboembolism United Kingdom White People
Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments.
Jingshu Wang, Qingyuan Zhao, Jack Bowden, Gibran Hemani, George Davey Smith, Dylan S Small, Nancy R Zhang
Jul 28, 2021
Over a decade of genome-wide association studies (GWAS) have led to the finding of extreme polygenicity of complex traits. The phenomenon that "all genes affect every complex trait" complicates Mendelian Randomization (MR)...
A comparison of robust Mendelian randomization methods using summary data.
The number of Mendelian randomization (MR) analyses including large numbers of genetic variants is rapidly increasing. This is due to the proliferation of genome-wide association studies, and the desire to obtain more precise...
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