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臨床および医療ゲノミクスジャーナル

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Polymorphisms of Cytochrome P450 2E1 Gene and Gastric Cancer Risk: A Case Control Study from West Bengal, India

Abstract

Ghosh Sudakshina , Ghosh Soumee , Bankura Biswabandhu, Saha Makhan Lal , Panda Chinmay Kumar , Chakraborty Subrata and Das Madhusudan

Background: RsaI/PstI and DraI polymorphisms of cytochrome P450 2E1 (CYP2E1) gene are regarded as the most common polymorphisms associated with gastric cancer (GC). Very few data of these polymorphisms have been reported from India with regard to GC risk. We evaluated RsaI: -C1053T (rs2031920), PstI: -G1295C (rs3813867) site in the 5’ flanking region, DraI: T7668A (rs6413432) site in intron 6, -G71T rs6413420 and G4768A or V179I rs6413419 polymorphisms of CYP2E1 with GC risk in the population of West Bengal, India.

Methods: We enrolled 105 GC patients (cases) and corresponding sex, age and ethnicity matched normal 108 individuals (controls) for the study. Genotyping for rs6413419, rs6413420, rs6413432, rs2031920, rs3813867 of CYP2E1 was performed using DNA sequencing and RFLP analysis.

Results and conclusion: Our results suggest that the difference between genotype frequencies of rs3813867 and rs2031920, although not statistically significant but the allele frequencies of rs3813867 (OR=2.29, 95% CI=1.01-5.18, p=0.042) and rs2031920 (OR=2.29, 95% CI=1.01-5.18, p=0.042) showed significant difference between GC and control individuals. This when pooled with smoking augmented GC risk by nearly 4-fold. Therefore, a larger population is needed to be screened to confirm the association of these studied SNPs with GC in India.

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