Study of Breast Cancer Resistance Protein ABCG2 C421A Single Nucleotide Polymorphism RS2231142 in Multiple Myeloma

Indian J Hematol Blood Transfus. 2022 Oct;38(4):658-667. doi: 10.1007/s12288-022-01523-3. Epub 2022 Feb 1.

Abstract

Breast cancer resistance protein is an adenosine triphosphate-binding cassette (ABC) transporter that belongs to the G-superfamily. It acts as an efflux pump that is crucial for cell protection against toxic compounds and xenobiotics such as procarcinogens. An individual's risk of developing carcinoma depends on genetic variations like single nucleotide polymorphisms (SNPs) that may cause alteration in gene expression and/or reductions in their activities. These changes may influence blood cells' exposure to toxic compounds and increase the susceptibility to multiple myeloma (MM). Our study aimed at investigating polymorphisms at position C421A of the ABCG-2 gene in MM for the first time in Egyptian patients. Peripheral blood mononuclear cells were analyzed for ABCG-2-C421A gene polymorphisms using real-time quantitative polymerase chain reaction in 50 MM patients and 50 control subjects. There is a statistically significant correlation between SNP-C421A of the ABCG-2 gene and the risk for MM (p = 0.0218). Preliminary studies suggest that SNP-C421A of the ABCG-2 gene can be helpful in predicting the risk of developing MM.

Supplementary information: The online version contains supplementary material available at 10.1007/s12288-022-01523-3.

Keywords: ABCG2; Multiple myeloma; Risk; Single nucleotide polymorphism.