Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: Data from population-based Japanese random samples

Kimio Yoshimura, Tomoyuki Hanaoka, Shumpei Ohnami, Sumiko Ohnami, Takashi Kohno, Ying Liu, Teruhiko Yoshida, Hiromi Sakamoto, Shoichiro Tsugane

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Knowledge of genetic polymorphisms in gene-environment studies may contribute to more accurate identification of avoidable risks and to developing tailor-made preventative measures. The aim of this study was to describe the allele frequencies of single nucleotide polymorphisms (SNPs) of select genes, which may be included in future gene-environment studies on cancer in Japan. SNP typing was performed on middle-aged Japanese men randomly selected from the general population in five areas of Japan. We genotyped and calculated allele frequencies of 153 SNPs located on 40 genes: CYP1A1, CYP1B1, CYP2C9, CYP2C19, CYP2E1, CYP17A1, CYP19A1, AHR, ESR1, ESR2, ERRRG, PGR, EPHX1, EPHX2, HSD17B2, HSD17B3, GSTM2, GSTM3, GSTT2, GSTP1, NAT1, NAT2, COMT, ADH1A, ADH1B, ADH1C, ALDH2, NOS2A, NOS3, IL1A, IL1B, OGG1, NUDT1 [MTH1], DRD2, DRD3, DRD4, SLC6A4, NR3C1 [GCCR], MTHFR, and NQO1. In the present study, the Japanese allele frequencies were verified by using nationwide population samples.

Original languageEnglish
Pages (from-to)654-658
Number of pages5
JournalJournal of Human Genetics
Issue number12
Publication statusPublished - 2003 Dec 1
Externally publishedYes



  • Cytochrome P-450 enzyme system
  • DNA repair enzymes
  • Gene frequency
  • Gene-environment study
  • Japanese population
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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