Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
- Iotchkova, Valentina
- Huang, Jie
- Morris, John A.
- Jain, Deepti
- Barbieri, Caterina
- Walter, Klaudia
- Min, Josine L.
- Chen, Lu
- Astle, William
- Cocca, Massimilian
- Deelen, Patrick
- Elding, Heather
- Farmaki, Aliki-Eleni
- Franklin, Christopher S.
- Franberg, Mattias
- Gaunt, Tom R.
- Hofman, Albert
- Jiang, Tao
- Kleber, Marcus E.
- Lachance, Genevieve
- Luan, Jianan
- Malerba, Giovanni
- Matchan, Angela
- Mead, Daniel
- Memari, Yasin
- Ntalla, Ioanna
- Panoutsopoulou, Kalliope
- Pazoki, Raha
- Perry, John R. B.
- Rivadeneira, Fernando
- Sabater-Lleal, Maria
- Sennblad, Bengt
- Shin, So-Youn
- Southam, Lorraine
- Traglia, Michela
- van Dijk, Freerk
- van Leeuwen, Elisabeth M.
- Zaza, Gianluigi
- Zhang, Weihua
- Amin, Najaf
- Butterworth, Adam
- Chambers, John C.
- Dedoussis, George
- Dehghan, Abbas
- Franco, Oscar H.
- Franke, Lude
- Frontini, Mattia
- Gambaro, Giovanni
- Gasparini, Paolo
- Swertz, Morris A.
DOIAbstract
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic variation underlying human traits. Here we apply genotype imputation based on whole-genome sequence data from the UK1OK and 1000 Genomes Project into 35,981 study participants of European ancestry, followed by association analysis with 20 quantitative cardiometabolic and hematological traits. We describe 17 new associations, including 6 rare (minor allele frequency (MAF) <1 %) or low-frequency (1% <MAF <5%) variants with platelet count (PLT), red blood cell indices (MCH and MCV) and HDL cholesterol. Applying fine-mapping analysis to 233 known and new loci associated with the 20 traits, we resolve the associations of 59 loci to credible sets of 20 or fe...
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