Association of potentially functional genetic variants of PLCE1 with gallbladder cancer susceptibility in North Indian population

Kiran Lata Sharma, Meenakshi Umar, Manmohan Pandey, Sanjeev Misra, Ashok Kumar, Vijay Kumar, Balraj Mittal

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Background and Objectives: Phospholipase C epsilon 1 (PLCE1) plays crucial roles in carcinogenesis and progression of esophageal and gastric cancers. In the present study, we investigated association of GWAS identified rs2274223 A>G and. rs7922612 T>C polymorphism of PLCE1 with susceptibility to gallbladder cancer (GBC). Methods: The study involved genotyping of selected PLCE1 variants in 416 GBC cases and 225 controls. Haplotype analysis was done by SNPStats. In silico analyses were performed using bioinformatic tools. Results: PLCE1 rs2274223 [AG] and rs7922612 [CC] genotypes were found to be significantly associated with an increased risk of GBC [OR = 1.9, p = 0.002; OR = 2.0, p = 0.04, respectively]. PLCE1 haplotype [Grs2274223-C rs7922612] also showed significant association with GBC [OR = 1.8, p = 0.04]. The association was significant in females and GBC patients with stones and female GBC patients with gallstones [OR = 2.6, p = 0.01; OR = 3.3, p = 0.007], respectively. However, no significant associations with other risk factors such as tobacco usage and age of onset were found. Functional prediction of rs2274223 A>G suggested change in protein coding and splicing regulation. Conclusion: The present study found a significant association of PLCE1 rs2274223 and rs7922612 polymorphisms with susceptibility to GBC probably through gallstone-mediated inflammatory pathway.

Original languageEnglish
Pages (from-to)436-443
Number of pages8
JournalJournal of Gastrointestinal Cancer
Volume44
Issue number4
DOIs
Publication statusPublished - 1 Dec 2013
Externally publishedYes

Fingerprint

Gallbladder Neoplasms
Population
Gallstones
Haplotypes
Protein Splicing
Genome-Wide Association Study
Esophageal Neoplasms
phospholipase C epsilon
Computational Biology
Age of Onset
Computer Simulation
Stomach Neoplasms
Tobacco
Carcinogenesis
Genotype

Keywords

  • Case-control association study
  • Gallstone disease
  • Genetic predisposition
  • Phospholipase C epsilon 1

ASJC Scopus subject areas

  • Oncology
  • Gastroenterology

Cite this

Association of potentially functional genetic variants of PLCE1 with gallbladder cancer susceptibility in North Indian population. / Sharma, Kiran Lata; Umar, Meenakshi; Pandey, Manmohan; Misra, Sanjeev; Kumar, Ashok; Kumar, Vijay; Mittal, Balraj.

In: Journal of Gastrointestinal Cancer, Vol. 44, No. 4, 01.12.2013, p. 436-443.

Research output: Contribution to journalArticle

Sharma, Kiran Lata ; Umar, Meenakshi ; Pandey, Manmohan ; Misra, Sanjeev ; Kumar, Ashok ; Kumar, Vijay ; Mittal, Balraj. / Association of potentially functional genetic variants of PLCE1 with gallbladder cancer susceptibility in North Indian population. In: Journal of Gastrointestinal Cancer. 2013 ; Vol. 44, No. 4. pp. 436-443.
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AU - Kumar, Vijay

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AB - Background and Objectives: Phospholipase C epsilon 1 (PLCE1) plays crucial roles in carcinogenesis and progression of esophageal and gastric cancers. In the present study, we investigated association of GWAS identified rs2274223 A>G and. rs7922612 T>C polymorphism of PLCE1 with susceptibility to gallbladder cancer (GBC). Methods: The study involved genotyping of selected PLCE1 variants in 416 GBC cases and 225 controls. Haplotype analysis was done by SNPStats. In silico analyses were performed using bioinformatic tools. Results: PLCE1 rs2274223 [AG] and rs7922612 [CC] genotypes were found to be significantly associated with an increased risk of GBC [OR = 1.9, p = 0.002; OR = 2.0, p = 0.04, respectively]. PLCE1 haplotype [Grs2274223-C rs7922612] also showed significant association with GBC [OR = 1.8, p = 0.04]. The association was significant in females and GBC patients with stones and female GBC patients with gallstones [OR = 2.6, p = 0.01; OR = 3.3, p = 0.007], respectively. However, no significant associations with other risk factors such as tobacco usage and age of onset were found. Functional prediction of rs2274223 A>G suggested change in protein coding and splicing regulation. Conclusion: The present study found a significant association of PLCE1 rs2274223 and rs7922612 polymorphisms with susceptibility to GBC probably through gallstone-mediated inflammatory pathway.

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