title: Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus infection in patients with esophageal carcinoma among the Kazakh populations.
abstract: The involvement of human papillomavirus (HPV) in the carcinogenesis of esophageal squamous carcinoma remains undetermined. However, three genome-wide association studies of esophageal cancer have identified a shared susceptibility locus at 10q23 (rs2274223: A5780G) in phospholipase C epsilon 1 (PLCE1). The current study aims to present a comprehensive and novel spectrum about the HPV genotype distribution of esophageal carcinoma in Kazakhs and assess its association with PLCE1 polymorphisms. The HPV genotypes in 183 patients with esophageal cancer and 89 controls selected from the Kazakh population were evaluated using the HPV gene chip. The PLCE1 rs2274223 variant was genotyped in esophageal carcinoma patients by MALDI-ToF Mass Spectrometry. The presence of seven HPV genotypes in esophageal carcinoma tissues-including HPV 16, 18, 35, 52, 6, 11, 43-was significantly higher at 31.7% than those in controls at 9.0% (P < 0.001). Such presence was strongly associated with increased risk of esophageal carcinoma (OR 4.70; 95% CI 2.13-10.36). Among all HPV genotypes detected, HPV16 was the most common genotype identified (29.0%, OR 4.13; 95% CI 1.87-9.13), which is significantly associated with well-differentiated esophageal carcinoma (P = 0.037). HPV-positive patients were generally younger than HPV-negative patients (70.1% vs. 29.3%, P = 0.013). PLCE1 rs2274223 genotypes AG and AG/GG were significantly associated with HPV-positive patients with esophageal carcinoma (OR 2.05, 95% CI 1.03-4.08 and OR 1.98, 95% CI 1.02-3.84, respectively). These findings suggest that heterozygote of PLCE1 rs2274223 increases susceptibility to HPV infection in patients with esophageal carcinoma among the Kazakh populations.
authors.affiliation: Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, China; Department of Oncology, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Xiaobin
authors.initials: X
authors.lastname: Cui
authors.forename: Yunzhao
authors.initials: Y
authors.lastname: Chen
authors.forename: Lin
authors.initials: L
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Jianming
authors.initials: J
authors.lastname: Hu
authors.forename: Lan
authors.initials: L
authors.lastname: Yang
authors.forename: Weihua
authors.initials: W
authors.lastname: Liang
authors.forename: Feng
authors.initials: F
authors.lastname: Li
mesh_terms: D052685:Alphapapillomavirus; D002681:China / Q000453:epidemiology; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000821:virology*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007623:Kazakhstan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D030361:Papillomavirus Infections / Q000453:epidemiology* / Q000235:genetics; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon
keywords: Kazakh population; esophageal carcinoma; human papillomavirus; phospholipase C epsilon 1; susceptibility