|Full name||cytochrome P450, family 2, subfamily E, polypeptide 1|
|Max Magnitude||Chromosome position||Summary|
CYP2E1 encodes a member of the cytochrome P450 superfamily of enzymes involved in drug metabolism. CYP2E1 is induced by ethanol, the diabetic state, and starvation. It metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including various anaesthetics, paracetamol, benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke.Wikipedia
While a fair number of CYP2E1 variants have been described, their impact on CYP2E1 activity remains mostly un- or at least under-described. Individuals carrying the *1 alleles and functional alleles in general are considered extensive metabolizers (EMs); some individuals are poor metabolizers (PMs) but the variety of genotypes that lead to this phenotype have not all been elucidated.
Furthermore, there are at least two conflicting naming conventions for CYP2E1 alleles. The more commonly used system is based on the "cypalleles" convention, with designations like CYP2E1*1, and CYP2E1*2. However, an extensive 2008 study determined the 16 most common CYP2E1 haplotypes [numbered A to P] for 2,600 individuals for 50 different human populations using 11 markers, and it was not possible to readily correlate these haplotypes with those from the "cypalleles" system. Note that 1 of the 11 CYP2E1 markers was a VNTR and not a SNP per se, leading to ambiguity when genosets are determined by promethease from most microarray platforms.
Therefore, both systems will be outlined here. Readers with knowledge of functional activity per allele, per haplotype, or per genotype are requested to either add the information to this page or to email it (email@example.com) to SNPedia staff.
Using the "cypalleles" nomenclature:
SNPs used in the determination of the 16 most common haplotypes worldwide: