%0 Journal Article
%T Role of CYP2E1 genotypes in susceptibility to colorectal cancer in the Kashmiri population
%A A Sameer
%A Saniya Nissar
%A Qurteeba Qadri
%A Shafia Alam
%A Shahid Baba
%A Mushtaq A Siddiqi
%J Human Genomics
%D 2011
%I BioMed Central
%R 10.1186/1479-7364-5-6-530
%X Colorectal cancer (CRC) is one of the major causes of mortality and morbidity, and is the fourth most common cancer in men and the third most common cancer in women worldwide [1]. Kashmir has been reported as being a high-incidence area for gastrointestinal (GIT) cancers [2,3]. In the Kashmir valley, CRC represents the third most common GIT cancer after oesophageal and gastric cancers [4-6].Epidemiological studies on various populations have shown that an increased risk of developing GIT cancers is associated with diet [2,7,8]. One important hypothesis that has received a large amount of attention is that N-nitroso compounds from dietary sources are involved in the carcinogenesis of GIT cancer [9,10]. It is known that most exogenous (xenobiotics) and endogenous chemical carcinogens require biotransformation to activated forms to be carcinogenic [11,12]. Most of the enzymes involved in drug metabolism are genetically polymorphic, and these polymorphisms may affect enzyme activity or inducibility [13-15].The cytochrome P450 2E1 gene (CYP2E1) is located on chromosome 10q26.3. It is 18,754 base pairs (bp) long, consists of nine exons and eight introns and encodes a 493-amino acid protein. CYP2E1 belongs to the cytochrome P450 superfamily [16]. It is a natural ethanol-inducible enzyme and is of great interest because of its role in the metabolism and bioactivation of many low molecular weight compounds, including ethanol and acetone, drugs such as acetaminophen, isoniazid, chlorzoxazone and fluorinated anaesthetics and many procarcinogens such as benzene, N-nitrosoamines, vinyl chloride and styrene [17-20].CYP2E1 contains six restriction fragment length polymorphisms, of which the RsaI polymorphism (CYP2E1*5B; C-1054T substitution) and the 96-bp insertion in its 5'-flanking region have drawn much interest [16,20,21]. The RsaI polymorphism has been shown to affect the transcriptional level of the gene. The variant type of this polymorphic site can enhance the transcriptio
%K colorectal cancer
%K CYP2E
%K polymorphism
%K Kashmir
%U http://www.humgenomics.com/content/5/6/530