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Updated: Aug 25, 2025

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

Hadeer Aly Abbassy1, Mayada Aly Moussa2, Rahma Mohamed Abd Elmoniem1

  • 1Clinical Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
|October 19, 2022
PubMed

Insights

Genetic variations in the ABCG-2 gene, specifically the C421A single nucleotide polymorphism (SNP), are linked to an increased risk of developing multiple myeloma (MM). This finding may aid in predicting MM susceptibility.

Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • Breast cancer resistance protein (BCRP) is an ABC transporter crucial for cellular defense against toxins.
  • Genetic variations, such as single nucleotide polymorphisms (SNPs), can alter transporter function and influence disease susceptibility.
  • Multiple myeloma (MM) is a cancer where genetic factors may play a role in susceptibility.

Purpose of the Study:

  • To investigate the association between ABCG-2 gene polymorphisms (C421A) and the risk of multiple myeloma (MM) in an Egyptian cohort.
  • To be the first study to examine this specific polymorphism in relation to MM in Egyptian patients.

Main Methods:

  • Genotyping of the ABCG-2 C421A polymorphism was performed using real-time quantitative polymerase chain reaction.
  • Peripheral blood mononuclear cells were analyzed from 50 MM patients and 50 healthy controls.
  • Statistical analysis was employed to determine the correlation between the polymorphism and MM risk.

Main Results:

  • A statistically significant correlation was found between the ABCG-2 C421A SNP and the risk of multiple myeloma (p=0.0218).
  • The study identified a specific genetic marker associated with increased MM susceptibility in the studied population.

Conclusions:

  • The C421A polymorphism in the ABCG-2 gene is significantly associated with an increased risk of multiple myeloma.
  • This genetic variant may serve as a potential biomarker for predicting MM risk in susceptible individuals.
Keywords:
ABCG2Multiple myelomaRiskSingle nucleotide polymorphism

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