title: Expression quantitative trait loci in long non-coding RNA PAX8-AS1 are associated with decreased risk of cervical cancer.
abstract: Paired box 8 (PAX8) is a crucial nephric-lineage transcription factor, and its aberrant expression has been detected in various types of cancer including Müllerian carcinomas. PAX8 antisense RNA 1 (PAX8-AS1), a potential regulator of PAX8, contains specific single nucleotide polymorphisms (SNPs) that may represent expression quantitative trait loci (eQTLs) for PAX8. In this study, we hypothesized that these eQTLs SNPs in PAX8-AS1 may influence the risk of cervical cancer. A case-control study of 1486 cervical cancer patients and 1536 cancer-free controls was conducted to identify the associations between two eQTLs SNPs (rs4848320 and rs1110839) and cervical cancer. Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer. Moreover, the haplotype containing variant alleles of the two SNPs significantly decreased the risk of cervical cancer compared to the most frequent haplotype (adjusted OR = 0.82, 95 % CI = 0.70-0.95, P = 0.009). These findings indicate that PAX8 eQTLs SNPs may serve as novel susceptibility markers for cervical cancer.
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China.|Department of Epidemiology, Nanjing Medical University Affiliated Cancer Institute of Jiangsu Province, Nanjing, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Han
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Zhou
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China.
authors.forename: Meiqun
authors.initials: M
authors.lastname: Jia
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Wen
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Jiang
authors.affiliation: National Office for Cancer Prevention and Control, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, No. 17 Panjiayuannanli, Chaoyang District, Beijing, China.
authors.forename: Jufang
authors.initials: J
authors.lastname: Shi
authors.affiliation: Department of Cancer Prevention, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Zhang
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China.|State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
authors.forename: Hongxia
authors.initials: H
authors.lastname: Ma
authors.affiliation: Department of Hepatobiliary Surgery, Nantong Tumor Hospital, Nantong, China.
authors.forename: Jibin
authors.initials: J
authors.lastname: Liu
authors.affiliation: National Office for Cancer Prevention and Control, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, No. 17 Panjiayuannanli, Chaoyang District, Beijing, China.
authors.forename: Jiansong
authors.initials: J
authors.lastname: Ren
authors.affiliation: National Office for Cancer Prevention and Control, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, No. 17 Panjiayuannanli, Chaoyang District, Beijing, China.
authors.forename: Min
authors.initials: M
authors.lastname: Dai
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China.|State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China. hangdong@njmu.edu.cn.
authors.forename: Dong
authors.initials: D
authors.lastname: Hang
authors.affiliation: National Office for Cancer Prevention and Control, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, No. 17 Panjiayuannanli, Chaoyang District, Beijing, China. lini1240@hotmail.com.
authors.forename: Ni
authors.initials: N
authors.lastname: Li
authors.affiliation: Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Department of Epidemiology and Biostatistics, School of Public Health, Cancer Center, Nanjing Medical University, Nanjing, 211166, China. hbshen@njmu.edu.cn.|State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China. hbshen@njmu.edu.cn.
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
mesh_terms: D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D000072636:PAX8 Transcription Factor / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D062085:RNA, Long Noncoding / Q000235:genetics*; D002583:Uterine Cervical Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D062085:RNA, Long Noncoding; C000613710:long non-coding RNA PAX8-AS1, human
keywords: Cervical cancer; LncRNA; PAX8; PAX8-AS1; Single nucleotide polymorphism