title: Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms and esophageal cancer risk in the Kashmir Valley.
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.
  
  
  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 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.
authors.affiliation: Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India E-mail : balraj@sgpgi.ac.in, balrajmittal@gmail.com.
authors.forename: Manzoor Ahmad
authors.initials: MA
authors.lastname: Malik
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Umar
authors.forename: Usha
authors.initials: U
authors.lastname: Gupta
authors.forename: Showkat Ali
authors.initials: SA
authors.lastname: Zargar
authors.forename: Balraj
authors.initials: B
authors.lastname: Mittal
mesh_terms: D016022:Case-Control Studies; D004938:Esophageal Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D012907:Smoking / Q000009:adverse effects; D013662:Tea / Q000009:adverse effects
chemical_list: D013662:Tea; D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon