Objective To investigate the prediction of paired box gene 1 (PAX1) gene methylation on the development of low-grade squamous intraepithelial lesion (LSIL) and its clinical significance.

Methods A total of 191 patients participated in the study, including 58 normal cervical tissue, 53 LSIL, 29 high-grade squamous intraepithelial lesion (HSIL), and 51 cervical cancer (CC).PAX1 methylation was detected by methylation-sensitive restriction enzyme combined with real-time quantitative PCR (MSRE-qPCR).Receiver operating characteristic (ROC) curves were constructed to quantify the diagnostic performance of PAX1 hypermethylation in distinguishing HSIL from ≤ LSIL samples.

Results The PAX1 gene showed a significant trend of increased methylation levels with the severity of cervical lesions (P < 0.01).The ROC curve showed that MSRE-qPCR quantified PAX1 methylation with an AUC of 0.97 for distinguishing CC, 0.87 for HSIL, and 0.88 for ≥HSIL.When the Youden index was maximized, the methylation cutoff △Ct=4.0, the specificity was 94.30%, and the sensitivity was 96.00%.For clinical sample screening for HSIL, PAX1 combined with HR-HPV or TCT improved specificity to 95.70% and 96.20%, higher than HR-HPV (20.30%) or TCT (51.20%), or the combination of HR-HPV and TCT (57.80%).

Conclusions PAX1 hypermethylation is an ideal biomarker to differentiate HSIL from LSIL.