title: Two novel polymorphisms in PLCE1 are associated with the susceptibility to esophageal squamous cell carcinoma in Chinese population.
abstract: Esophageal cancer is the sixth leading cause of cancer-associated death worldwide. Phospholipase C epsilon 1 (PLCE1) gene was found to be associated with the risk of esophageal squamous cell carcinoma (ESCC) by three large-scale genome-wide association studies (GWAS) in Chinese populations. To evaluate the association between the single nucleotide polymorphisms (SNPs) in PLCE1 gene and ESCC risk, a case-control study including 550 patients with ESCC and 550 age, gender-matched controls was carried out to investigate the genetic susceptibility of three SNPs (rs3765524 C/T and two unreported potentially functional SNPs rs10882379 G/A and rs829232 G/A) as well as the interactions of gene-gene and gene-environment in the development of ESCC. And the results showed that GA genotype of rs10882379 was significantly associated with reduced ESCC risk compared with GG genotype (adjusted OR [95% CI]: 0.66 [0.51, 0.86]), while AA genotype of rs829232 was significantly associated with increased ESCC risk compared with GG genotype (adjusted OR [95% CI]: 1.37 [1.12, 1.67]). The haplotype analysis showed increased ESCC risk in Grs10882379Crs3765524Ars829232 and Grs10882379Trs3765524Ars829232 haplotypes with OR (95% CI) of 1.40 (1.13, 1.73) and 1.66 (1.18, 2.34), respectively and inversely reduced ESCC risk in Ars10882379Crs3765524Grs829232 haplotype with OR (95% CI) of 0.74 (0.61, 0.91). The gene-environment interaction analysis emerged a best model consisted of four factors (rs10882379, rs3765524, rs829232 and family history of ESCC) that could increase the ESCC risk in the 'high risk group' with 4.45-fold (OR [95% CI]: 5.45 [4.13, 7.19]), compared to the 'low risk group.' Our results further validate that the SNPs in PLCE1 gene may contribute to the ESCC susceptibility in Chinese Han population. Also the gene-gene and gene-environment interactions play a certain crucial role in the ESCC progression.
authors.affiliation: Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.|Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Qu
authors.affiliation: Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.|Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
authors.forename: S
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Digestive System, Navy General Hospital, Beijing, China.
authors.forename: L
authors.initials: L
authors.lastname: Cui
authors.affiliation: Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.|Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
authors.forename: K
authors.initials: K
authors.lastname: Wang
authors.affiliation: Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.|Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
authors.forename: C
authors.initials: C
authors.lastname: Song
authors.affiliation: Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.|Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
authors.forename: P
authors.initials: P
authors.lastname: Wang
authors.affiliation: Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.|Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.|Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
authors.forename: L
authors.initials: L
authors.lastname: Dai
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D002680:Chin; D004843:Epistasis, Genetic; D004938:Esophageal Neoplasms / Q000235:genetics*; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon
keywords: PLCE1; esophageal squamous cell carcinoma; polymorphism; susceptibility