Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir 190011, India.
Hum Genomics. 2011 Oct;5(6):530-7. doi: 10.1186/1479-7364-5-6-530.
Cytochrome P450 2E1 (CYP2E1) is a key enzyme involved in the metabolic activation of procarcinogens such as N-nitrosoamines and low-molecular-weight organic compounds. The main aim of this study was to determine whether CYP450 2E1 polymorphisms are associated with the risk of colorectal cancer (CRC). We investigated the genotype distribution of the CYP2E1 gene RsaI and a 96-base pair (bp) insertion in 86 CRC cases in comparison with 160 healthy subjects. We found the frequency of the CYP2E1 RsaI genotype to be 53.5 per cent (46/86) for c1/c1, 17.4 per cent (15/86) for c1/c2 and 29.1 per cent (25/86) for c2/c2, and the CYP2E1 98-bp insertion frequencies to be 63.9 per cent (55/86) for non-insertion (i/i), 22.1 per cent (19/86) for heterozygous insertion (i/I) and 36.0 per cent (12/86) for homozygous insertion (I/I) among CRC cases. We also found the CYP2E1 RsaI c2/c2 and CYP2E1 98-bp heterozygous i/I genotypes to be significantly associated with an increased risk of CRC (p = 0.01). We suggest that CYP2E1 polymorphisms are involved in the susceptibility to developing CRC in the ethnic Kashmiri population.
细胞色素 P450 2E1（CYP2E1）是参与前致癌物如亚硝胺和低分子量有机化合物代谢激活的关键酶。本研究的主要目的是确定 CYP450 2E1 多态性是否与结直肠癌（CRC）的风险相关。我们调查了 CYP2E1 基因 RsaI 多态性和 86 例 CRC 病例与 160 例健康对照个体中 96 个碱基对（bp）插入的基因型分布。我们发现 CYP2E1 RsaI 基因型的频率为 c1/c1 为 53.5%（46/86），c1/c2 为 17.4%（15/86），c2/c2 为 29.1%（25/86），CYP2E1 98-bp 插入频率为非插入（i/i）为 63.9%（55/86），杂合插入（i/I）为 22.1%（19/86），纯合插入（I/I）为 36.0%（12/86）。我们还发现 CYP2E1 RsaI c2/c2 和 CYP2E1 98-bp 杂合 i/I 基因型与 CRC 风险增加显著相关（p = 0.01）。我们认为 CYP2E1 多态性参与了克什米尔族群 CRC 易感性。
