Rs2230806

rs2230806, also known as Arg219Lys or R219K, is a SNP in the ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 gene. The rs2230806(G) allele encodes the arginine (R), and the (A) allele encodes the lysine (K).

A meta-analysis published in 2011 comprising 22 studies with 6597 cases and 15,369 controls studied the association between the rs2230806 and risk for coronary artery disease. Overall, rs2230806(A) significantly associated with a higher HDL-C level in Asians and does lower the risk (odds ratio 0.76, CI: 0.68-0.85, p=3.78e-07) of coronary artery disease in Asians and Caucasians.

ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease.

Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease.

ABCA1 polymorphisms and Alzheimer's disease.

Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.

The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile.

Modifier effects between regulatory and protein-coding variation.

Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

A survey of ABCA1 sequence variation confirms association with dementia.

Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.

ABCA1 gene variants regulate postprandial lipid metabolism in healthy men.

Increase in HDL-C concentration by a dietary portfolio with soy protein and soluble fiber is associated with the presence of the ABCA1R230C variant in hyperlipidemic Mexican subjects.