title: Functional PstI/RsaI polymorphisms in the CYP2E1 gene among south Indian populations.
abstract: Human cytochrome P4502E1 (CYP2E1) is a well-conserved xenobiotic-metabolizing enzyme expressed in liver, kidney, nasal mucosa, brain, lung, and other tissues. CYP2E1 is inducible by ethanol, acetone, and other low-molecular weight substrates and may mediate development of chemically-mediated cancers. CYP2E1 polymorphisms alter the transcriptional activity of the gene. This study was conducted in order to investigate the allele frequency variation in different populations of Andhra Pradesh. Two hundred and twelve subjects belonging to six populations were studied. Genotype and allele frequency were assessed through TaqMan allelic discrimination (rs6413419) and polymerase chain reaction-sequencing (-1295G>C and -1055C>T) after DNA isolation from peripheral leukocytes. The data were compared with other available world populations. The SNP rs6413419 is monomorphic in the present study, -1295G>C and -1055C>T are less polymorphic and followed Hardy-Weinberg equilibrium in all the populations studied. The -1295G>C and -1055C>T frequencies were similar and acted as surrogates in all the populations. Analysis of HapMap populations data revealed no significant LD between these markers in all the populations. Low frequency of CYP2E1 c2 could be useful in the understanding of south Indian population gene composition, alcohol metabolism, and alcoholic liver disease development. However, screening of additional populations and further association studies are necessary. The heterogeneity of Indian population as evidenced by the different distribution of CYP2E1 c2 may help in understanding the population genetic and evolutionary aspects of this gene.
authors.affiliation: Department of Zoology, Sri Venateswara University, Tirupati, Chennai, India.
authors.forename: Saikrishna
authors.initials: S
authors.lastname: Lakkakula
authors.forename: Rajasekhar
authors.initials: R
authors.lastname: Maram
authors.forename: Arasambattu Kannan
authors.initials: AK
authors.lastname: Munirajan
authors.forename: Ram Mohan
authors.initials: RM
authors.lastname: Pathapati
authors.forename: Subrahmanyam Bhattaram
authors.initials: SB
authors.lastname: Visveswara
authors.forename: Bhaskar Vks
authors.initials: BV
authors.lastname: Lakkakula
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007194:India; D007438:Introns / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*
chemical_list: D019392:Cytochrome P-450 CYP2E1