Functional PstI/RsaI Polymorphisms in the CYP2E1 Gene among South Indian Populations

Lakkakula, Saikrishna; Maram, Rajasekhar; Munirajan, Arasambattu Kannan; Pathapati, Ram Mohan; Visweswara, Subrahmanyam Bhattaram; Lakkakula, Bhaskar V.K.S.

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자료유형: 학술저널

저자정보: Lakkakula, Saikrishna (Department of Zoology, Sri Venkateswara University) Maram, Rajasekhar (Department of Zoology, Sri Venkateswara University) Munirajan, Arasambattu Kannan (Department of Genetics, Dr. ALM PG Institute of Basic MedicalSciences, University of Madras) Pathapati, Ram Mohan (Department of Pharmacology, Narayana Medical College) Visweswara, Subrahmanyam Bhattaram (Department of Forensic Medicine and Toxicology, Narayana Medical College) Lakkakula, Bhaskar V.K.S. (Department of Biomedical Sciences, SriRamachandraUniversity)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제14권 제1호

발행연도: 2013.1

수록면: 179 - 182 (4page)

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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.

#CYP2E1 #SNP #allelic variation #South Indian populations

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