| Summary: | <p>Abstract</p> <p>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 <it>CYP450 2E1 </it>polymorphisms are associated with the risk of colorectal cancer (CRC). We investigated the genotype distribution of the <it>CYP2E1 </it>gene <it>RsaI </it>and a 96-base pair (bp) insertion in 86 CRC cases in comparison with 160 healthy subjects. We found the frequency of the <it>CYP2E1 RsaI </it>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 <it>CYP2E1 </it>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 <it>CYP2E1 RsaI </it>c2/c2 and <it>CYP2E1 </it>98-bp heterozygous i/I genotypes to be significantly associated with an increased risk of CRC (<it>p </it>= 0.01). We suggest that <it>CYP2E1 </it>polymorphisms are involved in the susceptibility to developing CRC in the ethnic Kashmiri population.</p>
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