title: [Relationship between rs2274223 and rs3765524 polymorphisms of PLCE1 and risk of esophageal squamous cell carcinoma in a Kazakh Chinese population].
abstract: OBJECTIVE
  To investigate the association between the rs2274223 and rs3765524 polymorphism of phospholipase C epsilon 1 (PLCE1) gene and the susceptibility to develop esophageal squamous cell carcinoma (ESCC) in a pure Kazakh Chinese population.
  
  
  METHODS
  Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) was utilized to genotype the potentially functional single nucleotide polymorphism rs2274223 A>G and rs3765524 C>T of PLCE1 in an ongoing hospital-based and case-control study of 200 ESCC cases with 300 cancer-free age ( ± 5 years) and sex matched controls. Statistical analyses were performed with Statistical Products and Services Solutions software (version 13.0). Adjusted odds ratios (OR) and 95% confidence evaluation intervals (95%CI) measured by multivariate logistic regression analysis were adopted to study the correlation of the gene polymorphism with the susceptibility to ESCC.
  
  
  RESULTS
  The genotype frequencies observed for rs2274223 was consistent with Hardy-Weinberg equilibrium in controls. Univariate analysis revealed significant differences between cases and controls with respect to genotype distribution for rs2274223 (P = 0.006). The variants of rs2274223 were found to confer significantly increased risk of ESCC (GG vs AA: OR = 3.17, 95%CI = 1.45-6.93; AG/GG vs AA: OR = 1.55, 95%CI = 1.08-2.22) in the Kazakh Chinese population. Moreover, AG/GG genotype of rs2274223 was found to be significantly associated with poorly-differentiated ESCC (OR = 2.48, 95%CI = 1.10-5.60). When the ESCC patients were divided into two subgroups, stage I/II and stage III/IV according to the AJCC TNM classification, the GT/GG genotype of rs2274223 was significantly associated with stage III/IV ESCC (OR = 1.85, 95%CI = 1.05-3.25). No significant association was found between rs3765524 and Kazakh ESCC.
  
  
  CONCLUSIONS
  These results indicate that rs2274223 site polymorphism of the PLCE1 gene is strongly associated with risk of ESCC in a Kazakh Chinese population, especially the poorly-differentiated and stage III/IV ESCC.
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Yun-zhao
authors: YZ
authors: Chen
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Xiao-bin
authors: XB
authors: Cui
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Xue-lian
authors: XL
authors: Pang
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Li
authors: L
authors: Li
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Jian-ming
authors: JM
authors: Hu
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Chun-xia
authors: CX
authors: Liu
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Yu-wen
authors: YW
authors: Cao
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China.
authors: Lan
authors: L
authors: Yang
authors: Department of Pathology, Shihezi University School of Medicine/Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Shihezi 832002, China. E-mail: lifeng7855@126.com.
authors: Feng
authors: F
authors: Li
mesh_terms: D000483:Alleles; D002294:Carcinoma, Squamous Cell / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D016001:Confidence Intervals; D004938:Esophageal Neoplasms / Q000208:ethnology / Q000235:genetics*; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007623:Kazakhstan / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon