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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Iotchkova, Valentina
•
Huang, Jie
•
Morris, John A
altro
Soranzo, Nicole
2016
  • journal article

Periodico
NATURE GENETICS
Abstract
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 UK10K 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 fewer variants and describe trait enrichments within regions of predicted regulatory function. These findings improve understanding of the allelic architecture of risk factors for cardiometabolic and hematological diseases and provide additional functional insights with the identification of potentially novel biological targets.
DOI
10.1038/ng.3668
WOS
WOS:000386543400005
SCOPUS
2-s2.0-84988713790
Archivio
http://hdl.handle.net/11368/2883192
http://dx.doi.org/10.1038/ng.3668
Diritti
closed access
FVG url
https://arts.units.it/request-item?handle=11368/2883192
Soggetti
  • WGS, IMPUTATION, FINE...

Scopus© citazioni
48
Data di acquisizione
Jun 14, 2022
Vedi dettagli
Web of Science© citazioni
49
Data di acquisizione
Jun 16, 2022
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