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Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): a case-control study in eastern Chinese populations.

Publication ,  Journal Article
Hu, H; Yang, J; Sun, Y; Yang, Y; Qian, J; Jin, L; Wang, M; Bi, R; Zhang, R; Zhu, M; Sun, M; Ma, H; Wei, Q; Jiang, G; Zhou, X; Chen, H
Published in: Ann Surg Oncol
July 2012

BACKGROUND: A novel variant rs2274223 located in the phospholipase C epsilon 1 (PLCE1) gene was found to be associated with risk of esophageal squamous cell carcinoma (ESCC) by 2 large-scale genome-wide association studies (GWASs) in Chinese populations. In this study, we aimed to assess such an association in an eastern Chinese population and to address its possibly functional role in the etiology of ESCC. METHODS: A total of 1061 ESCC cases and 1211 controls were recruited and successfully genotyped for 2 single nucleotide polymorphisms (SNPs) (rs2274223 and rs11187870) of the PLCE1 gene by the TaqMan assay. Real-time PCR and immunohistochemical (IHC) analysis were applied to assess mRNA and protein expression levels, respectively, in a subset of tumor samples. RESULTS: SNP rs2274223 was independently associated with risk of ESCC (adjusted odds ratio [OR], 1.49; 95% confidence interval [95% CI], 1.03-2.17 for GG vs AA), and SNP rs11187870 was also found to be associated with risk of ESCC assuming a dominant model (adjusted OR, 1.20; 95% CI, 1.00-1.44 for CG/CC vs GG). The Grs2274223Crs11187870 haplotype increased the risk for ESCC by 1.22-fold (95% CI, 1.04-1.42). Further experiments showed that overall PLCE1 mRNA expression was lower in tumor than in paired normal tissues (0.067±0.016 vs 0.264±0.067, P<.05), and the IHC analysis showed the normal tissues of rs2274223 GG genotype had a lower PLCE1 staining score than that of the AG genotype (0.40±0.22 vs 1.33±0.32, P<.05). CONCLUSIONS: PLCE1 SNP rs2274223 A>G change may reduce gene expression, and the variant G genotypes might contribute to risk of ESCC.

Duke Scholars

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Published In

Ann Surg Oncol

DOI

EISSN

1534-4681

Publication Date

July 2012

Volume

19

Issue

7

Start / End Page

2403 / 2410

Location

United States

Related Subject Headings

  • Reverse Transcriptase Polymerase Chain Reaction
  • Real-Time Polymerase Chain Reaction
  • RNA, Messenger
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Phosphoinositide Phospholipase C
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Immunoenzyme Techniques
 

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Hu, H., Yang, J., Sun, Y., Yang, Y., Qian, J., Jin, L., … Chen, H. (2012). Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): a case-control study in eastern Chinese populations. Ann Surg Oncol, 19(7), 2403–2410. https://doi.org/10.1245/s10434-011-2160-y
Hu, Haichuan, Jingmin Yang, Yihua Sun, Yajun Yang, Ji Qian, Li Jin, Mengyun Wang, et al. “Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): a case-control study in eastern Chinese populations.Ann Surg Oncol 19, no. 7 (July 2012): 2403–10. https://doi.org/10.1245/s10434-011-2160-y.
Hu, Haichuan, et al. “Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): a case-control study in eastern Chinese populations.Ann Surg Oncol, vol. 19, no. 7, July 2012, pp. 2403–10. Pubmed, doi:10.1245/s10434-011-2160-y.
Hu H, Yang J, Sun Y, Yang Y, Qian J, Jin L, Wang M, Bi R, Zhang R, Zhu M, Sun M, Ma H, Wei Q, Jiang G, Zhou X, Chen H. Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): a case-control study in eastern Chinese populations. Ann Surg Oncol. 2012 Jul;19(7):2403–2410.
Journal cover image

Published In

Ann Surg Oncol

DOI

EISSN

1534-4681

Publication Date

July 2012

Volume

19

Issue

7

Start / End Page

2403 / 2410

Location

United States

Related Subject Headings

  • Reverse Transcriptase Polymerase Chain Reaction
  • Real-Time Polymerase Chain Reaction
  • RNA, Messenger
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Phosphoinositide Phospholipase C
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Immunoenzyme Techniques