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
in 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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genome, Human
/
Exons
/
Polymorphism, Single Nucleotide
/
Angiopoietins
Type of study:
Systematic_reviews
Limits:
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
J Med Genet
Year:
2016
Document type:
Article
Affiliation country:
Netherlands