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Nat Genet ; 48(11): 1303-1312, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27668658

RESUMEN

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.


Asunto(s)
Sitios Genéticos , Genoma Humano , Estudio de Asociación del Genoma Completo , Cardiopatías/genética , Enfermedades Hematológicas/genética , Femenino , Predisposición Genética a la Enfermedad , Variación Genética , Humanos , Masculino , Sitios de Carácter Cuantitativo , Análisis de Secuencia de ADN
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