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Title: Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Authors: Võsa, U
Claringbould, A
Westra, HJ
Bonder, MJ
Deelen, P
Zeng, B
Kirsten, H
Saha, A
Kreuzhuber, R
Yazar, S
Brugge, H
Oelen, R
de Vries, DH
van der Wijst, MGP
Kasela, S
Pervjakova, N
Alves, I
Favé, MJ
Agbessi, M
Christiansen, MW
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, JA
Arindrarto, W
Beutner, F
Dmitrieva, J
Elansary, M
Fairfax, BP
Georges, M
Heijmans, BT
Hewitt, AW
Kähönen, M
Kim, Y
Knight, JC
Kovacs, P
Krohn, K
Li, S
Loeffler, M
Marigorta, UM
Mei, H
Momozawa, Y
Müller-Nurasyid, M
Nauck, M
Nivard, MG
Penninx, BWJH
Pritchard, JK
Raitakari, OT
Rotzschke, O
Slagboom, EP
Stehouwer, CDA
Stumvoll, M
Sullivan, P
't Hoen, PAC
Thiery, J
Tönjes, A
van Dongen, J
van Iterson, M
Veldink, JH
Völker, U
Warmerdam, R
Wijmenga, C
Swertz, M
Andiappan, A
Montgomery, GW
Ripatti, S
Perola, M
Kutalik, Z
Dermitzakis, E
Bergmann, S
Frayling, T
van Meurs, J
Prokisch, H
Ahsan, H
Pierce, BL
Lehtimäki, T
Boomsma, DI
Psaty, BM
Gharib, SA
Awadalla, P
Milani, L
Ouwehand, WH
Downes, K
Stegle, O
Keywords: gene expression;gene regulation;genome-wide association studies
Issue Date: 2-Sep-2021
Publisher: Springer Nature
Citation: Võsa, U. et al. (2021) 'Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression', Nature genetics, 53 (9), pp. 1300 - 1310. doi: 10.1038/s41588-021-00913-z.
Abstract: 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 potential drivers for those traits. In summary, this work represents a large eQTL resource, and its results serve as a starting point for in-depth interpretation of complex phenotypes.
ISSN: 1061-4036
Other Identifiers: ORCiD ID: Hanieh Yaghootkar -
Appears in Collections:Dept of Life Sciences Research Papers

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