|?|| (A;A) (A;G) (G;G) ||28|
| Disease Association
|| Defects in ABCA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) (MIM:604091); also known as familial hypoalphalipoproteinemia (FHA). HDLD2 is inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
[PMID 22668585] Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses
[PMID 23111454] Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease
[PMID 23262498] Impact of geneticfactorsondyslipidemia in HIV-infected patients starting antiretroviral therapy