Department of Medical Genetics, School of Medicine Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Pharmacognosy, College of Pharmacy, Hawler Medical University, Erbil, Iraq.
J Mol Neurosci. 2021 Jul;71(7):1403-1409. doi: 10.1007/s12031-021-01858-y. Epub 2021 Jun 14.
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.
维生素 D 受体 (VDR) 信号已被报道影响神经发育,从而参与自闭症谱系障碍 (ASD) 的风险。我们已经测量了 ASD 患者和正常对照者循环中 VDR、CYP27B1 以及两种相关的长链非编码 RNA(SNHG6 和 LINC00511)的表达量。与对照组相比,ASD 病例中 CYP27B1 的表达显著更高(后验贝塔=2.38,SE=0.46,调整后的 P 值<0.0001,贝塔的 95%可信区间(CrI)为[1.49, 3.27])。与对照组相比,ASD 病例中 SNHG6 的水平较低(后验贝塔=-0.791,SE=0.24,调整后的 P 值=0.029,贝塔的 95%CrI 为[-1.27, -0.33])。VDR 和 LINC00511 的表达水平在 ASD 病例和对照组之间相似(P 值分别为 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(r=0.32,P<0.0001)之间存在显著相关性。因此,这些结果表明 ASD 患者中存在一些 VDR 相关基因的失调。