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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 06170naa a2201693 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:141483442 | |
| 003 | SwePub | |
| 008 | 240829s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1414834422 URI |
| 024 | 7 | a https://doi.org/10.1038/s41467-019-10936-02 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Porcu, E4 aut |
| 245 | 1 0 | a Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits |
| 264 | c 2019-07-24 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2019 |
| 520 | a Genome-wide association studies (GWAS) have identified thousands of variants associated with complex traits, but their biological interpretation often remains unclear. Most of these variants overlap with expression QTLs, indicating their potential involvement in regulation of gene expression. Here, we propose a transcriptome-wide summary statistics-based Mendelian Randomization approach (TWMR) that uses multiple SNPs as instruments and multiple gene expression traits as exposures, simultaneously. Applied to 43 human phenotypes, it uncovers 3,913 putatively causal gene–trait associations, 36% of which have no genome-wide significant SNP nearby in previous GWAS. Using independent association summary statistics, we find that the majority of these loci were missed by GWAS due to power issues. Noteworthy among these links is educational attainment-associated BSCL2, known to carry mutations leading to a Mendelian form of encephalopathy. We also find pleiotropic causal effects suggestive of mechanistic connections. TWMR better accounts for pleiotropy and has the potential to identify biological mechanisms underlying complex traits. | |
| 700 | 1 | a Rueger, S4 aut |
| 700 | 1 | a Lepik, K4 aut |
| 700 | 1 | a Agbessi, M4 aut |
| 700 | 1 | a Ahsan, H4 aut |
| 700 | 1 | a Alves, I4 aut |
| 700 | 1 | a Andiappan, A4 aut |
| 700 | 1 | a Arindrarto, W4 aut |
| 700 | 1 | a Awadalla, P4 aut |
| 700 | 1 | a Battle, A4 aut |
| 700 | 1 | a Beutner, F4 aut |
| 700 | 1 | a Bonder, MJ4 aut |
| 700 | 1 | a Boomsma, D4 aut |
| 700 | 1 | a Christiansen, M4 aut |
| 700 | 1 | a Claringbould, A4 aut |
| 700 | 1 | a Deelen, P4 aut |
| 700 | 1 | a Esko, T4 aut |
| 700 | 1 | a Fave, MJ4 aut |
| 700 | 1 | a Franke, L4 aut |
| 700 | 1 | a Frayling, T4 aut |
| 700 | 1 | a Gharib, SA4 aut |
| 700 | 1 | a Gibson, G4 aut |
| 700 | 1 | a Heijmans, BT4 aut |
| 700 | 1 | a Hemani, G4 aut |
| 700 | 1 | a Jansen, R4 aut |
| 700 | 1 | a Kahonen, M4 aut |
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| 700 | 1 | a Kasela, S4 aut |
| 700 | 1 | a Kettunen, J4 aut |
| 700 | 1 | a Kim, Y4 aut |
| 700 | 1 | a Kirsten, H4 aut |
| 700 | 1 | a Kovacs, P4 aut |
| 700 | 1 | a Krohn, K4 aut |
| 700 | 1 | a Kronberg-Guzman, J4 aut |
| 700 | 1 | a Kukushkina, V4 aut |
| 700 | 1 | a Lee, B4 aut |
| 700 | 1 | a Lehtimaki, T4 aut |
| 700 | 1 | a Loeffler, M4 aut |
| 700 | 1 | a Marigorta, UM4 aut |
| 700 | 1 | a Mei, HL4 aut |
| 700 | 1 | a Milani, L4 aut |
| 700 | 1 | a Montgomery, GW4 aut |
| 700 | 1 | a Muller-Nurasyid, M4 aut |
| 700 | 1 | a Nauck, M4 aut |
| 700 | 1 | a Nivard, M4 aut |
| 700 | 1 | a Penninx, B4 aut |
| 700 | 1 | a Perola, M4 aut |
| 700 | 1 | a Pervjakova, N4 aut |
| 700 | 1 | a Pierce, BL4 aut |
| 700 | 1 | a Powell, J4 aut |
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| 700 | 1 | a Rotzschke, O4 aut |
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| 700 | 1 | a Stehouwer, CDA4 aut |
| 700 | 1 | a Stumvoll, M4 aut |
| 700 | 1 | a Sullivan, Pu Karolinska Institutet4 aut |
| 700 | 1 | a 't Hoen, PAC4 aut |
| 700 | 1 | a Teumer, A4 aut |
| 700 | 1 | a Thiery, J4 aut |
| 700 | 1 | a Tong, L4 aut |
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| 700 | 1 | a van Iterson, M4 aut |
| 700 | 1 | a van Meurs, J4 aut |
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| 700 | 1 | a Wijmenga, C4 aut |
| 700 | 1 | a Yaghootkar, H4 aut |
| 700 | 1 | a Yang, J4 aut |
| 700 | 1 | a Zeng, B4 aut |
| 700 | 1 | a Zhang, FT4 aut |
| 700 | 1 | a Beekman, M4 aut |
| 700 | 1 | a Bot, J4 aut |
| 700 | 1 | a Deelen, J4 aut |
| 700 | 1 | a Hofman, BA4 aut |
| 700 | 1 | a Hottenga, JJ4 aut |
| 700 | 1 | a Isaacs, A4 aut |
| 700 | 1 | a Jhamai, PM4 aut |
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| 700 | 1 | a Tigchelaar, EF4 aut |
| 700 | 1 | a Uitterlinden, AG4 aut |
| 700 | 1 | a van den Berg, LH4 aut |
| 700 | 1 | a van der Breggen, R4 aut |
| 700 | 1 | a van der Kallen, CJH4 aut |
| 700 | 1 | a van Dijk, F4 aut |
| 700 | 1 | a van Duijn, CM4 aut |
| 700 | 1 | a van Galen, M4 aut |
| 700 | 1 | a van Greevenbroek, MMJ4 aut |
| 700 | 1 | a van Heemst, D4 aut |
| 700 | 1 | a van Rooij, J4 aut |
| 700 | 1 | a Van't Hof, P4 aut |
| 700 | 1 | a van Zwet, EW4 aut |
| 700 | 1 | a Vermaat, M4 aut |
| 700 | 1 | a Verbiest, M4 aut |
| 700 | 1 | a Verkerk, M4 aut |
| 700 | 1 | a Zhernakova, DV4 aut |
| 700 | 1 | a Zhernakova, S4 aut |
| 700 | 1 | a Santoni, FA4 aut |
| 700 | 1 | a Reymond, A4 aut |
| 700 | 1 | a Kutalik, Z4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Nature communicationsd : Springer Science and Business Media LLCg 10:1, s. 3300-q 10:1<3300-x 2041-1723 |
| 856 | 4 | u https://www.nature.com/articles/s41467-019-10936-0.pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:141483442 |
| 856 | 4 8 | u https://doi.org/10.1038/s41467-019-10936-0 |
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- Gibson, G
- Heijmans, BT
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- Kalnapenkis, A
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- Kim, Y
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