Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
- Võsa, U.
- Claringbould, A.
- Westra, H. J.
- Bonder, M. J.
- Deelen, P.
- Zeng, B.
- Kirsten, H.
- Saha, A.
- Kreuzhuber, R.
- Yazar, S.
- Brugge, H.
- Oelen, R.
- de Vries, D. H.
- van der Wijst, M. G. P.
- Kasela, S.
- Pervjakova, N.
- Alves, I.
- Favé, M. J.
- Agbessi, M.
- Christiansen, M. W.
- Jansen, R.
- Seppälä, I.
- Tong, L.
- Teumer, A.
- Schramm, K.
- Hemani, G.
- Verlouw, J.
- Yaghootkar, H.
- Sönmez Flitman, R.
- Brown, A.
- Kukushkina, V.
- Kalnapenkis, A.
- Rüeger, S.
- Porcu, E.
- Kronberg, J.
- Kettunen, J.
- Lee, B.
- Zhang, F.
- Qi, T.
- Hernandez, J. A.
- Arindrarto, W.
- Beutner, F.
- Dmitrieva, J.
- Elansary, M.
- Fairfax, B. P.
- Georges, M.
- Heijmans, B. T.
- Hewitt, A. W.
- Kähönen, M.
- Kim, Y.
- Knight, J. C.
- Kovacs, P.
- Krohn, K.
- Li, S.
- Loeffler, M.
- Marigorta, U. M.
- Mei, H.
- Momozawa, Y.
- Müller-Nurasyid, M.
- Nauck, M.
- Nivard, M. G.
- Penninx, Bwjh
- Pritchard, J. K.
- Raitakari, O. T.
- Rotzschke, O.
- Slagboom, E. P.
- Stehouwer, C. D. A.
- Stumvoll, M.
- Sullivan, P.
- t Hoen, P. A. C.
- Thiery, J.
- Tönjes, A.
- van Dongen, J.
- van Iterson, M.
- Veldink, J. H.
- Völker, U.
- Warmerdam, R.
- Wijmenga, C.
- Swertz, M.
- Andiappan, A.
- Montgomery, G. W.
- Ripatti, S.
- Perola, M.
- Kutalik, Z.
- Dermitzakis, E.
- Bergmann, S.
- Frayling, T.
- van Meurs, J.
- Prokisch, H.
- Ahsan, H.
- Pierce, B. L.
- Lehtimäki, T.
- Boomsma, D. I.
- Psaty, B. M.
- Gharib, S. A.
- Awadalla, P.
- Milani, L.
- Ouwehand, W. H.
- Downes, K.
- Stegle, O.
- Battle, A.
- Visscher, P. M.
- Yang, J.
- Scholz, M.
- Powell, J.
- Gibson, G.
- Esko, T.
- Franke, L.
DOIAbstract
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 sever...
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