Two novel polymorphisms in PLCE1 are associated with the susceptibility to esophageal squamous cell carcinoma in Chinese population

Y Qu; S Zhang; L Cui; K Wang; C Song; P Wang; J Zhang; L Dai

doi:10.1111/dote.12463

Two novel polymorphisms in PLCE1 are associated with the susceptibility to esophageal squamous cell carcinoma in Chinese population

Dis Esophagus. 2017 Jan 1;30(1):1-7. doi: 10.1111/dote.12463.

Authors

Y Qu^{1

2}, S Zhang^{1

2}, L Cui³, K Wang^{1

2}, C Song^{1

2}, P Wang^{1

2}, J Zhang^{1

2}, L Dai^{1

2}

Affiliations

¹ Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, China.
² Key Laboratory of Tumor Epidemiology, Zhengzhou, China.
³ Department of Digestive System, Navy General Hospital, Beijing, China.

PMID: 27061010
DOI: 10.1111/dote.12463

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.

Keywords: PLCE1; esophageal squamous cell carcinoma; polymorphism; susceptibility.

MeSH terms

Adult
Aged
Asian People / genetics
Carcinoma, Squamous Cell / genetics*
Case-Control Studies
Chin
Epistasis, Genetic
Esophageal Neoplasms / genetics*
Esophageal Squamous Cell Carcinoma
Female
Gene-Environment Interaction
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Male
Middle Aged
Odds Ratio
Phosphoinositide Phospholipase C / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Young Adult

Substances

Phosphoinositide Phospholipase C
phospholipase C epsilon