Expression quantitative trait loci in long non-coding RNA PAX8-AS1 are associated with decreased risk of cervical cancer
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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.
KeywordsLncRNA PAX8 PAX8-AS1 Single nucleotide polymorphism Cervical cancer
We thank the study participants and researchers for their contributions and commitment to this study.
Compliance with ethical standards
This study was supported by the National Natural Science Fund from the National Natural Science Foundation of China (Grant Nos. 81502873, 81172757, 81373079 and 30901236), Natural Science Foundation of Jiangsu Province for Youth (Grant No. BK20150997), Natural Science Foundation of the Higher Education Institutions of Jiangsu Province (Grant No. 15KJB330001), Priority Academic Program for the Development of Jiangsu Higher Education Institutions (Public Health and Preventive Medicine), China Postdoctoral Science Foundation (Grant No. 2015M570467), Beijing Natural Science Foundation (Grant No. 7123225), and Beijing Nova Program (Grant No. xx2012067).
Conflict of interest
The authors declare that they have no conflict of interest.
This article does not contain any studies with animals performed by any of the authors. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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