Multiple polymorphisms within the PLCE1 are associated with esophageal cancer via promoting the gene expression in a Chinese Kazakh population

Cui, Xiao-Bin, Chen, Yun-Zhao, Pang, Xue-lian, Liu, Wei, Hu, Jian-Ming, Li, Shu-Gang, Yang, Lan, Zhang, Wen-Jie, Liu, Chun-xia, Cao, Yu-wen, Jiang, Jin-Fang, Gu, Wen-Yi, Pang, James, Yang, Lei, Yuan, Xiang-Lin, Yu, Shi-Ying and Li, Feng (2013) Multiple polymorphisms within the PLCE1 are associated with esophageal cancer via promoting the gene expression in a Chinese Kazakh population. Gene, 530 2: 315-322. doi:10.1016/j.gene.2013.08.057


Author Cui, Xiao-Bin
Chen, Yun-Zhao
Pang, Xue-lian
Liu, Wei
Hu, Jian-Ming
Li, Shu-Gang
Yang, Lan
Zhang, Wen-Jie
Liu, Chun-xia
Cao, Yu-wen
Jiang, Jin-Fang
Gu, Wen-Yi
Pang, James
Yang, Lei
Yuan, Xiang-Lin
Yu, Shi-Ying
Li, Feng
Title Multiple polymorphisms within the PLCE1 are associated with esophageal cancer via promoting the gene expression in a Chinese Kazakh population
Formatted title
Multiple polymorphisms within the PLCE1 are associated with esophageal cancer via promoting the gene expression in a Chinese
Kazakh population
Journal name Gene   Check publisher's open access policy
ISSN 0378-1119
Publication date 2013-11
Sub-type Article (original research)
DOI 10.1016/j.gene.2013.08.057
Open Access Status
Volume 530
Issue 2
Start page 315
End page 322
Total pages 8
Place of publication Amsterdam, Netherlands
Publisher Elsevier
Collection year 2014
Language eng
Abstract Although recent genome-wide association studies of esophageal squamous cell carcinoma (ESCC) identified a susceptibility locus in phospholipase C epsilon 1 ( PLCE1) in Chinese Han populations, few studies further confirmed these findings in pure Kazakh population in which there are higher incidence and mortality of ESCC. Here, we investigated the potential associations between 19 SNPs of PLCE1 and susceptibility to ESCC in 222 cases and 326 controls from a pure ethnic population of Kazakh. Real-time PCR and immunohistochemistry were performed to detect the PLCE1 expression levels and evaluate their association with PLCE1 polymorphism. We found that only 4 SNPs (rs753724, rs11187842, rs2274223, and rs12263737) with moderate linkage disequilibrium (LD) confer significantly increased risk of ESCC, with the ORs ranging from 1.43 to 2.04, and there was a risk allele dose-dependent increase in ESCC risk ( P-trend. = 0.043). Especially, the risk effects of rs2274223 were more evident in poor differentiation and advanced clinical stages of Kazakh ESCC. Additionally, the significantly lowest PLCE1 mRNA expression was found in the KYSE-150 cell line having no risk alleles compared with other three cell lines having risk alleles, and the normal tissues of both homozygous mutant type of PLCE1 rs12263737 and rs2274223 had a higher PLCE1 staining score than that of homozygous wild type. Our findings suggested that genetic variants in PLCE1 might serve as candidate markers for Kazakh ESCC susceptibility, and these LD variants might influence ESCC risk individually and jointly by promoting the messenger RNA and protein expression of the gene.
Keyword Phospholipase C epsilon 1
Esophageal squamous cell carcinoma
Kazakh
Polymorphisms
Expression
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

 
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