Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population


Ulusoy G., Arinc E., Adali O.

ARCHIVES OF TOXICOLOGY, vol.81, no.10, pp.711-718, 2007 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 81 Issue: 10
  • Publication Date: 2007
  • Doi Number: 10.1007/s00204-007-0200-y
  • Journal Name: ARCHIVES OF TOXICOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.711-718
  • Keywords: CYP2E1 gene, Turkish population, genetic polymorphism, allele frequencies, CYP2E1*5B, *6, *7B, N-NITROSODIMETHYLAMINE METABOLISM, FRAGMENT-LENGTH-POLYMORPHISM, LUNG-CANCER, GENETIC POLYMORPHISMS, CYTOCHROME-P450 2E1, LIVER-MICROSOMES, BLADDER-CANCER, RABBIT LIVER, SUSCEPTIBILITY, RISK

Abstract

Cytochrome P4502E1 (CYP2E1) gene shows genetic polymorphisms that vary markedly in frequency among different ethnic and racial groups. We studied the genotype distributions and allele frequencies of three CYP2E1 polymorphisms: CYP2E1*5B (RsaI/PstI RFLP, C-1053T/G-1293C SNP, rs2031920 /rs3813867), CYP2E1*6 (DraI RFLP, T7632A SNP, rs6413432), and CYP2E1*7B (DdeI RFLP, G-71T SNP, rs6413420) by PCR/RFLP technique in a sample of 206 healthy subjects representing Turkish population. CYP2E1*5B polymorphism analysis yielded the genotype distribution as 96.12% for *1A/*1A (c1/c1), and 3.88% for *1A/*5B (c1/c2). The genotype frequencies for CYP2E1*6 polymorphism were found as 83.98% for *1A/*1A (T/T), 15.53% for *1A/*6 (T/A) and 0.49% for *6/*6 (A/A). For CYP2E1*7B (G-71T) polymorphism, the genotype frequencies were determined to be 86.89% for *1A/*1A (G/G), 12.62% for *1A/*7B (G/T) and 0.49% for *7B/*7B (T/T). Accordingly, the allele frequencies for *5B, *6 and *7B were 1.94, 8.25, and 6.80%, respectively. The genotype distributions of CYP2E1*5B and *6 in Turkish population were similar to those in other Caucasian populations, while differed significantly from East Asian populations. Recently, a novel and functionally important CYP2E1*7B polymorphism was identified in the promoter region. There have been few studies and limited data on CYP2E1*7B polymorphism frequency in the world and, so far, no information has been available for Turkish population. The genotype frequencies of CYP2E1*7B in Turkish population were found to be similar to those of other Caucasian populations. Population studies like this could be useful in assessing the susceptibility of different populations to chemical-induced diseases, including several types of cancer.