[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: Yun-zhao Chen, Xiao-bin Cui, Xue-lian Pang, Li Li, Jian-ming Hu, Chun-xia Liu, Yu-wen Cao, Lan Yang, Feng Li
• Journal: Zhonghua bing li xue za zhi = Chinese journal of pathology (Zhonghua Bing Li Xue Za Zhi) Vol. 42 Issue 12 Pg. 795-800 (Dec 2013) ISSN: 0529-5807 [Print] China
• PMID: 24507095 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Phosphoinositide Phospholipase C
• phospholipase C epsilon

Topics

• Alleles
• Carcinoma, Squamous Cell (ethnology, genetics)
• Case-Control Studies
• China (epidemiology)
• Confidence Intervals
• Esophageal Neoplasms (ethnology, genetics)
• Esophageal Squamous Cell Carcinoma
• Female
• Genetic Predisposition to Disease
• Genotype
• Humans
• Kazakhstan (ethnology)
• Male
• Middle Aged
• Odds Ratio
• Phosphoinositide Phospholipase C (genetics)
• Polymorphism, Single Nucleotide
• Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization