Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
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Phospholipase C Epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) Polymorphisms and Esophageal Cancer Risk in the Kashmir Valley

  • Malik, Manzoor Ahmad (Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences) ;
  • Umar, Meenakshi (Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences) ;
  • Gupta, Usha (Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences) ;
  • Zargar, Showkat Ali (Department of Gastroenterology, Sher-i-Kashmir Institute of Medical Sciences) ;
  • Mittal, Balraj (Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences)
  • Published : 2014.05.30
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Abstract

Background: Phospholipase C epsilon 1 (PLCE1) encodes a member of the phospholipase family of proteins that play crucial roles in carcinogenesis and progression of several cancers including esophageal cancer (EC). In two large scale genome-wide association studies (GWAS) single nucleotide polymorphisms (SNP, rs2274223A>G, rs3765524C>T) in PLCE1 were identified as novel susceptibility loci of esophageal cancer (EC) in China. The aim of the present study was to investigate this finding in Kashmir Valley, a high risk area. Materials and Methods: We determined genotypes of three potentially functional SNPs (rs2274223A>G, rs3765524C>T and rs7922612C>T) of PLCE1 in 135 EC patients, and 195 age and gender matched controls in Kashmiri valley by PCR RFLP method. Risk for developing EC was estimated by binary logistic regression using SPSS. Results: The selected PLCE1 polymorphisms did not show independent association with EC. However, the $G_{2274223}T_{3765524}T_{7922612}$ haplotype was significantly associated with increased risk of EC (OR=2.92; 95% CI=1.30-6.54; p=0.009). Smoking and salted tea proved to be independent risk factors for EC. Conclusions: Genetic variations in PLCE1 modulate risk of EC in the high risk Kashmiri population.

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References

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