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Twenty novel genetic variations and haplotype structures of the DCK gene encoding human deoxycytidine kinase (dCK)

Su-Ryang Kim1, Yoshiro Saito, Keiko Maekawa

  • 1Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan. kim@nihs.go.jp

Drug Metabolism and Pharmacokinetics
|November 1, 2008
PubMed

Insights

This study identified 29 genetic variations in the deoxycytidine kinase (dCK) gene among Japanese cancer patients, including 20 novel variants. These findings highlight ethnic differences in dCK genetic makeup, crucial for cancer drug metabolism.

Area of Science:

  • Pharmacogenomics
  • Molecular Biology
  • Oncology

Background:

  • Deoxycytidine kinase (dCK) is essential for activating nucleoside anticancer drugs like gemcitabine.
  • Genetic variations in dCK can influence drug efficacy and patient response.
  • Understanding dCK genetic diversity is vital for personalized cancer therapy.

Purpose of the Study:

  • To comprehensively screen the deoxycytidine kinase (DCK) gene for genetic variations in Japanese cancer patients.
  • To identify novel genetic variations and analyze their frequencies.
  • To provide foundational data for DCK genotyping in Asian populations.

Main Methods:

  • Screening of the 5'-flanking region, 7 exons, and flanking introns of the DCK gene.
  • Genetic analysis of 256 Japanese cancer patients treated with gemcitabine.
  • Linkage disequilibrium analysis to identify haplotypes.

Main Results:

  • Twenty-nine genetic variations were identified in DCK, with twenty being novel.
  • Variations were found in the 5'-flanking region, UTRs, coding exon, and introns.
  • A known nonsynonymous SNP (364C>T) was detected at a frequency of 0.061, and 24 haplotypes were identified or inferred.

Conclusions:

  • Significant ethnic differences exist in DCK genetic variations.
  • The identified variations and haplotypes provide essential information for DCK genotyping in Japanese and potentially other Asian populations.
  • This research contributes to understanding the genetic basis of gemcitabine metabolism and response.

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