title: Functional variant of the P2X7 receptor gene is associated with human papillomavirus-16 positive cervical squamous cell carcinoma.
abstract: Human papillomavirus (HPV) infection and the fate of HPV infected cervical epithelial cells are strictly associated with cervical cancer development. P2X7 receptor has been implicated in both the regulation of immune responses and apoptosis of cervical cancer cells. The study aims to investigate if polymorphisms in the P2RX7 gene are associated with the risk of cervical cancer in Taiwanese women. P2RX7 253 T/C, 835 G/A, and 1513 A/C loss-of-function polymorphisms were genotyped in a hospital-based study of 507 women with cervical squamous cell carcinoma (CSCC) and 1619 age-matched healthy control women. The presence and genotypes of HPV in CSCC was determined. The frequency of 253 C/C genotype was found to increase significantly in patients with HPV-16 positive CSCC compared with controls (odds ratio = 10.2, 95% confidence interval 1.39-87.8, Pc = 0.03). No significant associations were found for other 2 polymorphisms. Analysis of haplotypes also revealed no significant differences among women with CSCC, those with HPV-16 positive CSCC and controls. In conclusion, inheritance of the C/C genotype at position 253 in the P2RX7 gene may contribute to the risk of HPV-16 associated CSCC in Taiwanese women.
authors: Department of Gynecology and Obstetrics, MacKay Memorial Hospital, Taipei City, Taiwan.|Department of Gynecology and Obstetrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan.
authors: Yuh-Cheng
authors: YC
authors: Yang
authors: Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.
authors: Tzu-Yang
authors: TY
authors: Chang
authors: Department of Gynecology and Obstetrics, MacKay Memorial Hospital, Taipei City, Taiwan.
authors: Tze-Chien
authors: TC
authors: Chen
authors: Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.
authors: Wen-Shan
authors: WS
authors: Lin
authors: Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.
authors: Shih-Chuan
authors: SC
authors: Chang
authors: Department of Pediatric Endocrinology, MacKay Children's Hospital, Taipei City, Taiwan.|Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.|Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan.|Institute of Biomedical Sciences, Mackay Medical College, New Taipei City, Taiwan.|Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
authors: Yann-Jinn
authors: YJ
authors: Lee
mesh_terms: D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology / Q000821:virology; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004279:DNA, Viral / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D040941:Heredity; D006579:Heterozygote; D006720:Homozygote; D061809:Human Papillomavirus DNA Tests; D052162:Human papillomavirus 16 / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D016017:Odds Ratio; D030361:Papillomavirus Infections / Q000821:virology*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D058486:Receptors, Purinergic P2X7 / Q000235:genetics*; D012307:Risk Factors; D013624:Taiwan; D002583:Uterine Cervical Neoplasms / Q000235:genetics* / Q000473:pathology / Q000821:virology
chemical_list: D004279:DNA, Viral; C546468:P2RX7 protein, human; D058486:Receptors, Purinergic P2X7
keywords: HPV; P2RX7; cervical cancer; immunity; polymorphism