Meta-analysis of 49â
549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.
J Med Genet
; 53(7): 441-9, 2016 07.
Article
en En
| MEDLINE
| ID: mdl-27036123
ABSTRACT
BACKGROUND:
So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels.METHODS:
We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from â¼60â 000 individuals in the discovery stage and â¼90â 000 samples in the replication stage.RESULTS:
Our study resulted in the identification of five new associations with circulating lipid levels at four loci. All four loci are within genes that can be linked biologically to lipid metabolism. One of the variants, rs116843064, is a damaging missense variant within the ANGPTL4 gene.CONCLUSIONS:
This study illustrates that GWAS with high-scale imputation may still help us unravel the biological mechanism behind circulating lipid levels.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Genoma Humano
/
Exones
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Polimorfismo de Nucleótido Simple
/
Angiopoyetinas
Tipo de estudio:
Systematic_reviews
Límite:
Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
J Med Genet
Año:
2016
Tipo del documento:
Article
País de afiliación:
Países Bajos