作者
Urmo Võsa, Annique Claringbould, Harm-Jan Westra, Marc Jan Bonder, Patrick Deelen, Biao Zeng, Holger Kirsten, Ashis Saha, Roman Kreuzhuber, Seyhan Yazar, Harm Brugge, Roy Oelen, Dylan H de Vries, Monique GP van der Wijst, Silva Kasela, Natalia Pervjakova, Isabel Alves, Marie-Julie Favé, Mawussé Agbessi, Mark W Christiansen, Rick Jansen, Ilkka Seppälä, Lin Tong, Alexander Teumer, Katharina Schramm, Gibran Hemani, Joost Verlouw, Hanieh Yaghootkar, Reyhan Sönmez Flitman, Andrew Brown, Viktorija Kukushkina, Anette Kalnapenkis, Sina Rüeger, Eleonora Porcu, Jaanika Kronberg, Johannes Kettunen, Bernett Lee, Futao Zhang, Ting Qi, Jose Alquicira Hernandez, Wibowo Arindrarto, Frank Beutner, BIOS Consortium’t Hoen Peter AC 68 van Meurs Joyce 27 van Dongen Jenny 69 van Iterson Maarten 42 Swertz Morris A. 6, i2QTL Consortium Jan Bonder Marc 1 5, Julia Dmitrieva, Mahmoud Elansary, Benjamin P Fairfax, Michel Georges, Bastiaan T Heijmans, Alex W Hewitt, Mika Kähönen, Yungil Kim, Julian C Knight, Peter Kovacs, Knut Krohn, Shuang Li, Markus Loeffler, Urko M Marigorta, Hailang Mei, Yukihide Momozawa, Martina Müller-Nurasyid, Matthias Nauck, Michel G Nivard, Brenda WJH Penninx, Jonathan K Pritchard, Olli T Raitakari, Olaf Rotzschke, Eline P Slagboom, Coen DA Stehouwer, Michael Stumvoll, Patrick Sullivan, Peter AC ’t Hoen, Joachim Thiery, Anke Tönjes, Jenny van Dongen, Maarten van Iterson, Jan H Veldink, Uwe Völker, Robert Warmerdam, Cisca Wijmenga, Morris Swertz, Anand Andiappan, Grant W Montgomery, Samuli Ripatti, Markus Perola, Zoltan Kutalik, Emmanouil Dermitzakis, Sven Bergmann, Timothy Frayling, Joyce van Meurs, Holger Prokisch, Habibul Ahsan, Brandon L Pierce, Terho Lehtimäki, Dorret I Boomsma, Bruce M Psaty, Sina A Gharib, Philip Awadalla, Lili Milani, Willem H Ouwehand, Kate Downes, Oliver Stegle, Alexis Battle, Peter M Visscher, Jian Yang, Markus Scholz, Joseph Powell, Greg Gibson, Tõnu Esko, Lude Franke
发表日期
2021/9
期刊
Nature genetics
卷号
53
期号
9
页码范围
1300-1310
出版商
Nature Publishing Group US
简介
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium. We detected cis-eQTL for 88% of genes, and these were replicable in numerous tissues. Distal trans-eQTL (detected for 37% of 10,317 trait-associated variants tested) showed lower replication rates, partially due to low replication power and confounding by cell type composition. However, replication analyses in single-cell RNA-seq data prioritized intracellular trans-eQTL. Trans-eQTL exerted their effects via several mechanisms, primarily through regulation by transcription factors. Expression of 13% of the genes correlated with polygenic scores for 1,263 phenotypes, pinpointing …
学术搜索中的文章
U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature genetics, 2021