Dynamic modelling of an ACADS genotype in fatty acid oxidation - Application of cellular models for the analysis of common genetic variants.

ABSTRACT:

Background

Genome-wide association studies of common diseases or metabolite quantitative traits often identify common variants of small effect size, which may contribute to phenotypes by modulation of gene expression. Thus, there is growing demand for cellular models enabling to assess the impact of gene regulatory variants with moderate effects on gene expression. Mitochondrial fatty acid oxidation is an important energy metabolism pathway. Common noncoding acyl-CoA dehydrogenase short chain (ACADS) gene variants are associated with plasma C4-acylcarnitine levels and allele-specific modulation of ACADS expression may contribute to the observed phenotype.

Methods and findings

We assessed ACADS expression and intracellular acylcarnitine levels in human lymphoblastoid cell lin

SUBMITTER: Matejka K 

PROVIDER: S-EPMC6532850 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature