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Detection of single nucleotide polymorphisms in the ABCG2 gene in a Dutch population

Tessa M Bosch1, Linda M Kjellberg, Anja Bouwers

  • 1Department of Pharmacy & Pharmacology, The Netherlands Cancer Institute/Slotervaart Hospital, 1066 EC Amsterdam, The Netherlands. aptbo@slz.nl

American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice
|April 9, 2005
PubMed
Abstract

Insights

Researchers identified 19 single nucleotide polymorphisms (SNPs) in the ABCG2 gene within a Dutch population, including 7 novel variants. These ABCG2 gene variations may influence drug metabolism and efficacy, particularly for anticancer drugs.

Area of Science:

  • Pharmacogenomics
  • Molecular Biology
  • Genetics

Background:

  • The ATP-binding cassette transporter ABCG2 (also known as Breast Cancer Resistance Protein) plays a crucial role in cellular defense against xenobiotics.
  • Overexpression of ABCG2 in cancer cells contributes to multidrug resistance (MDR) against various chemotherapy agents.
  • Significant inter-individual variability exists in the pharmacokinetics of drugs transported by ABCG2, potentially linked to genetic variations.

Purpose of the Study:

  • To systematically screen the ABCG2 gene for single nucleotide polymorphisms (SNPs) in a healthy Dutch population.
  • To determine the allele frequencies of known and novel SNPs within the ABCG2 gene.

Main Methods:

  • Genomic DNA was isolated from blood samples of 100 healthy Dutch volunteers (79% female, 21% male).
  • Polymerase chain reaction (PCR) amplification followed by DNA sequencing was employed to identify SNPs.
  • The study population was predominantly of Caucasian ethnicity (93%).

Main Results:

  • A total of 19 SNPs were identified in the ABCG2 gene.
  • Seven of the identified SNPs were previously unreported.
  • Notable SNPs include G8883A (R160Q) in exon 5 and C44168T (R575X) in exon 14, both resulting in amino acid substitutions. Many novel SNPs were located in intronic regions.

Conclusions:

  • The identified SNPs in the ABCG2 gene provide a basis for future investigations into their functional impact.
  • Further research will explore how these genetic variations affect ABCG2 protein expression, activity, and substrate interactions.
  • These findings can contribute to understanding the influence of ABCG2 genetic polymorphisms on the pharmacokinetics of anticancer drugs.

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