Functional variant of the P2X7 receptor gene is associated with human papillomavirus-16 positive cervical squamous cell carcinoma
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Yuh-Cheng Yang1,4,*, Tzu-Yang Chang3,*, Tze-Chien Chen1, Wen-Shan Lin3, Shih-Chuan Chang3, Yann-Jinn Lee2,3,5,6,7
1Department of Gynecology and Obstetrics, MacKay Memorial Hospital, Taipei City, Taiwan
2Department of Pediatric Endocrinology, MacKay Children’s Hospital, Taipei City, Taiwan
3Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan
4Department of Gynecology and Obstetrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan
5Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan
6Institute of Biomedical Sciences, Mackay Medical College, New Taipei City, Taiwan
7Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
*The authors wish it to be known that, in their opinion, the first 2 authors should be regarded as joint First Authors
Keywords: cervical cancer, HPV, immunity, P2RX7, polymorphism
Received: June 30, 2016 Accepted: September 28, 2016 Published: October 13, 2016
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.
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