Polymorphisms of ABCG2 and its impact on clinical relevance

Abstract Human ABCG2 is one of the most important ATP-binding cassette (ABC) transporters. This protein functions as a xenobiotic transporter of large, hydrophobic, positively or negatively charged molecules, a wide variety anticancer drugs, fluorescent dyes, and different toxic compounds found in normal food. SNPs in ABCG2 may affect absorption and distribution of these substrates, altering the accumulation, effectiveness and toxicity of compounds or drugs in large populations. Its transport properties have been implicated clinically and ABCG2 expression is linked with different disease states. We reviewed the SNPs of ABCG2 in clinical relevance about gout, acute myeloid leukemia, solid tumors, and other diseases.