Phospholipase C rpsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms and esophageal cancer risk in the Kashmir Valley

Manzoor Ahmad Malik, Meenakshi Umar, Usha Gupta, Showkat Ali Zargar, Balraj Mittal

Research output: Contribution to journalArticle

13 Citations (Scopus)

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 G2274223T3765524T7922612 haplotype was signifificantly 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.

Original languageEnglish
Pages (from-to)4319-4323
Number of pages5
JournalAsian Pacific Journal of Cancer Prevention
Volume15
Issue number10
DOIs
Publication statusPublished - 1 Jan 2014
Externally publishedYes

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Type C Phospholipases
Esophageal Neoplasms
Single Nucleotide Polymorphism
phospholipase C epsilon
Phospholipases
Genome-Wide Association Study
Tea
Restriction Fragment Length Polymorphisms
Haplotypes
China
Carcinogenesis
Logistic Models
Smoking
Genotype
Polymerase Chain Reaction
Population

Keywords

  • Esophageal cancer
  • Haplotype
  • Kashmir Valley
  • PCR/RFLP
  • PLCE1 polymorphisms

ASJC Scopus subject areas

  • Epidemiology
  • Oncology
  • Public Health, Environmental and Occupational Health
  • Cancer Research

Cite this

Phospholipase C rpsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms and esophageal cancer risk in the Kashmir Valley. / Malik, Manzoor Ahmad; Umar, Meenakshi; Gupta, Usha; Zargar, Showkat Ali; Mittal, Balraj.

In: Asian Pacific Journal of Cancer Prevention, Vol. 15, No. 10, 01.01.2014, p. 4319-4323.

Research output: Contribution to journalArticle

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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 G2274223T3765524T7922612 haplotype was signifificantly 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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