Genetic-by-age interaction analyses on complex traits in UK Biobank and their potential to identify effects on longitudinal trait change

Autor: Thomas W. Winkler, Simon Wiegrebe, Janina M. Herold, Klaus J. Stark, Helmut Küchenhoff, Iris M. Heid

Publikováno v: Genome Biology, Vol 25, Iss 1, Pp 1-26 (2024)

Abstract Background Genome-wide association studies (GWAS) have identified thousands of loci for disease-related human traits in cross-sectional data. However, the impact of age on genetic effects is underacknowledged. Also, identifying genetic effec

Externí odkaz: https://doaj.org/article/06178cb455154dc6bb30a4f1bdb1f632

Genome wide association study and genomic risk prediction of age related macular degeneration in Israel

Autor: Michelle Grunin, Daria Triffon, Gala Beykin, Elior Rahmani, Regev Schweiger, Liran Tiosano, Samer Khateb, Shira Hagbi-Levi, Batya Rinsky, Refael Munitz, Thomas W. Winkler, Iris M. Heid, Eran Halperin, Shai Carmi, Itay Chowers

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

Abstract The risk of developing age-related macular degeneration (AMD) is influenced by genetic background. In 2016, the International AMD Genomics Consortium (IAMDGC) identified 52 risk variants in 34 loci, and a polygenic risk score (PRS) from thes

Externí odkaz: https://doaj.org/article/3409c3c4eb8c4bab900e2f3a3246f280

A practical guide to the implementation of AI in orthopaedic research, Part 6: How to evaluate the performance of AI research?

Autor: Felix C. Oettl, Ayoosh Pareek, Philipp W. Winkler, Bálint Zsidai, James A. Pruneski, Eric Hamrin Senorski, Sebastian Kopf, Christophe Ley, Elmar Herbst, Jacob F. Oeding, Alberto Grassi, Michael T. Hirschmann, Volker Musahl, Kristian Samuelsson, Thomas Tischer, Robert Feldt, ESSKA Artificial Intelligence Working Group

Publikováno v: Journal of Experimental Orthopaedics, Vol 11, Iss 3, Pp n/a-n/a (2024)

Abstract Artificial intelligence's (AI) accelerating progress demands rigorous evaluation standards to ensure safe, effective integration into healthcare's high‐stakes decisions. As AI increasingly enables prediction, analysis and judgement capabil

Externí odkaz: https://doaj.org/article/1af373a9ad784a31a99c0d570ab45c80

X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

Autor: Markus Scholz, Katrin Horn, Janne Pott, Matthias Wuttke, Andreas Kühnapfel, M. Kamal Nasr, Holger Kirsten, Yong Li, Anselm Hoppmann, Mathias Gorski, Sahar Ghasemi, Man Li, Adrienne Tin, Jin-Fang Chai, Massimiliano Cocca, Judy Wang, Teresa Nutile, Masato Akiyama, Bjørn Olav Åsvold, Nisha Bansal, Mary L. Biggs, Thibaud Boutin, Hermann Brenner, Ben Brumpton, Ralph Burkhardt, Jianwen Cai, Archie Campbell, Harry Campbell, John Chalmers, Daniel I. Chasman, Miao Ling Chee, Miao Li Chee, Xu Chen, Ching-Yu Cheng, Renata Cifkova, Martha Daviglus, Graciela Delgado, Katalin Dittrich, Todd L. Edwards, Karlhans Endlich, J. Michael Gaziano, Ayush Giri, Franco Giulianini, Scott D. Gordon, Daniel F. Gudbjartsson, Stein Hallan, Pavel Hamet, Catharina A. Hartman, Caroline Hayward, Iris M. Heid, Jacklyn N. Hellwege, Bernd Holleczek, Hilma Holm, Nina Hutri-Kähönen, Kristian Hveem, Berend Isermann, Jost B. Jonas, Peter K. Joshi, Yoichiro Kamatani, Masahiro Kanai, Mika Kastarinen, Chiea Chuen Khor, Wieland Kiess, Marcus E. Kleber, Antje Körner, Peter Kovacs, Alena Krajcoviechova, Holly Kramer, Bernhard K. Krämer, Mikko Kuokkanen, Mika Kähönen, Leslie A. Lange, James P. Lash, Terho Lehtimäki, Hengtong Li, Bridget M. Lin, Jianjun Liu, Markus Loeffler, Leo-Pekka Lyytikäinen, Patrik K. E. Magnusson, Nicholas G. Martin, Koichi Matsuda, Yuri Milaneschi, Pashupati P. Mishra, Nina Mononen, Grant W. Montgomery, Dennis O. Mook-Kanamori, Josyf C. Mychaleckyj, Winfried März, Matthias Nauck, Kjell Nikus, Ilja M. Nolte, Raymond Noordam, Yukinori Okada, Isleifur Olafsson, Albertine J. Oldehinkel, Brenda W. J. H. Penninx, Markus Perola, Nicola Pirastu, Ozren Polasek, David J. Porteous, Tanja Poulain, Bruce M. Psaty, Ton J. Rabelink, Laura M. Raffield, Olli T. Raitakari, Humaira Rasheed, Dermot F. Reilly, Kenneth M. Rice, Anne Richmond, Paul M. Ridker, Jerome I. Rotter, Igor Rudan, Charumathi Sabanayagam, Veikko Salomaa, Neil Schneiderman, Ben Schöttker, Mario Sims, Harold Snieder, Klaus J. Stark, Kari Stefansson, Hannah Stocker, Michael Stumvoll, Patrick Sulem, Gardar Sveinbjornsson, Per O. Svensson, E-Shyong Tai, Kent D. Taylor, Bamidele O. Tayo, Andrej Teren, Yih-Chung Tham, Joachim Thiery, Chris H. L. Thio, Laurent F. Thomas, Johanne Tremblay, Anke Tönjes, Peter J. van der Most, Veronique Vitart, Uwe Völker, Ya Xing Wang, Chaolong Wang, Wen Bin Wei, John B. Whitfield, Sarah H. Wild, James F. Wilson, Thomas W. Winkler, Tien-Yin Wong, Mark Woodward, Xueling Sim, Audrey Y. Chu, Mary F. Feitosa, Unnur Thorsteinsdottir, Adriana M. Hung, Alexander Teumer, Nora Franceschini, Afshin Parsa, Anna Köttgen, Pascal Schlosser, Cristian Pattaro

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)

Abstract X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-relat

Externí odkaz: https://doaj.org/article/268d127148904565be810f5bb7b9bb96

Delayed multiligament PCL reconstruction is associated with a higher prevalence of intraarticular injury and may influence treatment

Autor: Bálint Zsidai, Ian D. Engler, Eric Narup, Ryan T. Lin, Ehab M. Nazzal, Philipp W. Winkler, Kristian Samuelsson, James J. Irrgang, Volker Musahl

Publikováno v: BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-7 (2023)

Abstract Background The aim of this study was to investigate differences in concomitant injury patterns and their treatment in patients undergoing early (≤ 12 weeks) and delayed (> 12 weeks) primary multiligament posterior cruciate ligament (PCL) r

Externí odkaz: https://doaj.org/article/b8a9e94f65f04c2fa75ad1910ec3d430