Shahriary Ghazaleh Mohammadzadeh, Galehdari Hamid, Jalali Amir, Zanganeh Fatemeh, Alavi Seyed Mohammad Reza, Aghanoori Mohammad Reza
Department of Genetics, Faculty of Mathematics, Shaheed Chamran University, Ahvaz, Iran.
Asian Pac J Cancer Prev. 2012;13(12):6505-10. doi: 10.7314/apjcp.2012.13.12.6505.
CYP2E1 encodes an enzyme which is mainly involved in bioactivation of potential carcinogens such as N-nitrosamines. Polymorphisms in the gene have been reported to be associated with cancer. The aim of this study was to evaluate genotype distributions and allele frequencies of five CYP2E1 polymorphisms in Iran.
Two hundred healthy individuals of an Iranian population from the southwest were included in this study. PCR-restriction fragment length polymorphism and Tetra-ARMS PCR methods were applied for CYP2E1 genotyping.
The allele frequencies for 5B, 6, 7B, 2, and 3 were calculated to be 1.5%, 16%, 28.5%, 0%, and 2.75% respectively. Results of this study showed that no significant differences in genotype and allele frequencies of five single nucleotide polymorphisms with respect to the gender and tribes. The chi-square test showed that the genotype frequencies of CYP2E15B were similar to Caucasians, but the distribution of CYP2E16 genotypes was similar to Asians. The frequencies of CYP2E12 (0%) and CYP2E13 (2.75%) alleles were within the range for Caucasians and Orientals. In the case of CYP2E17B, the data werelimited. Accordingly, the results were only compared with Europeans and the comparison showed significant differences.
In conclusion, ethnic and geographic differences may explain discrepancies in the prevalence of CYP2E1 polymorphisms.
细胞色素P450 2E1（CYP2E1）编码一种主要参与潜在致癌物如N-亚硝胺生物活化的酶。据报道，该基因的多态性与癌症有关。本研究的目的是评估伊朗人群中CYP2E1五个多态性位点的基因型分布和等位基因频率。
本研究纳入了200名来自伊朗西南部的健康个体。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和四引物扩增受阻突变系统PCR（Tetra-ARMS PCR）方法对CYP2E1进行基因分型。
计算得出5B、6、7B、2和3等位基因频率分别为1.5%、16%、28.5%、0%和2.75%。本研究结果表明，五个单核苷酸多态性位点的基因型和等位基因频率在性别和部落方面无显著差异。卡方检验显示，CYP2E15B的基因型频率与高加索人相似，但CYP2E16基因型的分布与亚洲人相似。CYP2E12（0%）和CYP2E13（2.75%）等位基因频率在高加索人和东方人的范围内。对于CYP2E17B，数据有限。因此，仅将结果与欧洲人进行比较，比较显示存在显著差异。
总之，种族和地理差异可能解释CYP2E1多态性患病率的差异。
