Vitamin D receptor (VDR) signaling has been reported to affect neurodevelopment, thus participating in the risk of autism spectrum disorder (ASD). We have measured expression amounts of VDR, CYP27B1, and two related long non-coding RNAs, namely SNHG6 and LINC00511, in the circulation of ASD patients compared with normal controls. Expression of CYP27B1 was remarkably higher in ASD cases compared with controls (posterior beta = 2.38, SE = 0.46, adjusted P value < 0.0001, 95% credible interval (CrI) for beta = [1.49, 3.27]). Level of SNHG6 was lower in ASD cases compared with controls (posterior beta = − 0.791, SE = 0.24, adjusted P value = 0.029, 95% CrI for beta = [− 1.27, − 0.33]). Expression levels of VDR and LINC00511 were similar between ASD cases and controls (P values = 0.97 and 0.46, respectively). Expressions of VDR, CYP27B1, SNHG6, and LINC00511 were not correlated with age of children. However, significant correlations were perceived between expressions of CYP27B1 and LINC00511 (r = 0.47, P < 0.0001), VDR and CYP27B1 (r = 0.42, P < 0.0001), and VDR and SNHG6 (r = 0.32, P < 0.0001). Therefore, these results imply dysregulation of a number of VDR-related genes in ASD patients.

据报道，维生素 D 受体 (VDR) 信号传导会影响神经发育，从而参与自闭症谱系障碍 (ASD) 的风险。与正常对照组相比，我们测量了 ASD 患者循环中VDR、CYP27B1和两种相关的长非编码 RNA，即SNHG6和LINC00511的表达量。与对照组相比，ASD 病例中CYP27B1的表达明显更高（后部 beta = 2.38，SE = 0.46，调整后的P值 < 0.0001，beta 的 95% 可信区间 (CrI) = [1.49, 3.27]）。与对照组相比，ASD 病例的SNHG6水平较低（后 beta = - 0.791，SE = 0.24，调整后的P值 = 0.029，β 的 95% CrI = [- 1.27，- 0.33]）。VDR和LINC00511的表达水平在 ASD 病例和对照组之间相似（分别为P值 = 0.97 和 0.46）。VDR、CYP27B1、SNHG6和LINC00511的表达与儿童年龄无关。然而，CYP27B1和LINC00511 (r = 0.47, P  < 0.0001)、VDR和CYP27B1 (r = 0.42, P  < 0.0001) 以及VDR和SNHG6的表达之间存在显着相关性（r = 0.32，P  < 0.0001）。因此，这些结果意味着 ASD 患者中许多 VDR 相关基因的失调。