ACACA, acetyl-CoA carboxylase alpha, 31

N. diseases: 241; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.030 Biomarker phenotype BEFREE Thus, inhibiting lipogenesis in humans reduced hepatic steatosis, but inhibiting ACC resulted in hypertriglyceridemia due to activation of SREBP-1c and increased VLDL secretion. 28768177 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.030 GeneticVariation phenotype BEFREE In the same sample (173 patients on olanzapine, quetiapine, chlorpromazine or mirtazapine [increasing the risk of hyperlipidemia] and 184 controls taking other antipsychotics), three (rs1266175, rs12453407 and rs9906543) of eight additional ACACA SNPs were significantly associated with hypertriglyceridemia in those taking drugs of interest, but not in controls. 19846279 2009
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.030 GeneticVariation phenotype BEFREE Known physiological mechanisms were supported for 3 associations found in patients taking olanzapine, quetiapine or chlorpromazine [acetyl-coenzyme A carboxylase alpha SNP (rs4072032) in the hypertriglyceridemia model, and for the neuropeptide Y (rs1468271) and ACCbeta, (rs2241220) in the hypercholesterolemia model]. 18031993 2008