Manovikas Biomedical Research and Diagnostic Centre, Manovikas Kendra, 482 Madudah, Plot I-24, Sector J, EM Bypass, Kolkata, West Bengal, 700107, India.
Sci Rep. 2024 Aug 20;14(1):19242. doi: 10.1038/s41598-024-70188-x.
The severity of autism spectrum disorder (ASD) shows wide variations, though the reason remains unclear. Vitamin D (VitD) deficiency is considered a risk factor for ASD and its supplementation was reported to reduce symptom severity. Since VitD, either synthesized in the skin or absorbed from the food, is transported to the liver by the vitamin D binding protein (DBP), we have analyzed DBP genetic polymorphisms [rs7041 (A/C), rs4588 (G/T), and rs3755967 (C/T)] affecting DBP function [Case = 411; Control = 397], levels of plasma 25(OH)D and DBP [Case = 25; Control = 26], and DBP mRNA expression [Case = 74; Control = 44] in a group of Indo-Caucasoid ASD probands and neurotypical subjects. ASD probands with rs7041'CC', rs4588 'TT', and rs3755967 'TT' genotypes exhibited higher scores for a few traits. Scores for Imitation and Listening response were also higher in the presence of the "A-T" haplotype (rs7041-rs4588). Plasma 25(OH)D and DBP levels as well as DBP mRNA expressions were significantly lower in the ASD probands as compared to the neurotypical subjects. We infer that DBP deficiency, in the presence of risk genetic variants, could be one of the reasons for the reported 25(OH)D deficiency of the ASD probands.
自闭症谱系障碍（ASD）的严重程度存在很大差异，但其原因尚不清楚。维生素 D（VitD）缺乏被认为是 ASD 的一个风险因素，其补充被报道可以降低症状严重程度。由于 VitD 无论是在皮肤中合成还是从食物中吸收，都由维生素 D 结合蛋白（DBP）运送到肝脏，因此我们分析了影响 DBP 功能的 DBP 遗传多态性[rs7041（A/C）、rs4588（G/T）和 rs3755967（C/T）] [病例=411；对照=397]、血浆 25（OH）D 和 DBP 水平[病例=25；对照=26]以及 DBP mRNA 表达[病例=74；对照=44]在一组印度-高加索 ASD 先证者和神经典型受试者中。携带 rs7041'CC'、rs4588 'TT'和 rs3755967 'TT'基因型的 ASD 先证者表现出更高的几个特征评分。在存在“ A-T”单倍型（rs7041-rs4588）的情况下，模仿和听力反应评分也更高。与神经典型受试者相比，ASD 先证者的血浆 25（OH）D 和 DBP 水平以及 DBP mRNA 表达显著降低。我们推断，在存在风险遗传变异的情况下，DBP 缺乏可能是 ASD 先证者报告的 25（OH）D 缺乏的原因之一。
