DNA Methylation of Patatin-Like Phospholipase Domain-Containing Protein 6 Gene Contributes to the Risk of Intracranial Aneurysm in Males.

: This study is aimed to investigate the contribution of patatin-like phospholipase domain-containing protein 6 () DNA methylation to the risk of intracranial aneurysm (IA) in the Han Chinese population. : A total of 96 age- and sex-matched participants were recruited to evaluate methylation bisulfite pyrosequencing. The mRNA expression in the plasma was determined using real-time quantitative reverse transcription-polymerase chain reaction. Human primary artery smooth muscle cells (HPCASMC) were used for the in vitro function study. : methylation was significantly higher in patients with IA than in healthy controls ( < 0.01). Sex group analysis showed that this correlation appeared in the male group ( < 0.01) but not in the female group ( > 0.05). methylation was significantly associated with age in all participants ( = 0.306, = 0.003) and in the control group ( = 0.377, = 0.008) but not in the IA group ( = 0.127, = 0.402). Furthermore, the mRNA expression significantly decreased in patients with IA than that in the controls ( = 0.016). expression was significantly inversely correlated with elevated DNA methylation in participants (r = -0.825, < 0.0001). In addition, transcription was significantly enhanced following treatment with 5-aza-2'-deoxycytidine methylation inhibitor in HPCASMC.The receiver operating characteristic analyses of curves showed that the mean methylation [area under the curve (AUC) = 0.74, < 0.001] and mRNA expression (AUC = 0.86, < 0.001) could have a diagnostic value for patients with IA. : Although future functional experiments are required to test our hypothesis, our study demonstrated that methylation and mRNA expression were significantly associated with the risk of IA; thus, they show potential for use in the early diagnosis of IA.