PDF(Pubmed)
Abstract：
Several single nucleotide polymorphisms (SNPs) of the vitamin D receptor (VDR) have been observed in association with susceptibility to various pathologies, including autism, major depression, age-related changes in cognitive functioning, and Parkinson\'s and Alzheimer\'s diseases. This study aimed to establish the association between Fok1/Apa1 polymorphic variants and anxious/depressive symptoms in nonclinical adolescents from central Italy, with the goal of identifying the risk of developing both symptoms. We found no significant difference in genotype distribution or dominant/recessive models of Fok1/Apa1 VDR polymorphic variants between subjects with anxious/depressive symptoms and controls. HN9.10e cell lines carrying the AA genotype for Fok1 and the CC genotype for Apa1 responded better to treatment with vitamin D3 than cell lines carrying the AG genotype for Fok1 and CA genotype for Apa1. Cell lines carrying the GG genotype for Fok1 and the AA genotype for Apa1 did not respond at all, suggesting avenues for future studies in both the general population and individuals with mental and/or neuropsychiatric disorders. These studies suggest that the level of response to vitamin D3 administered to prevent and/or treat mental or neurological disorders could depend on the polymorphic variants of the vitamin D receptor.
摘要：
已经观察到维生素D受体（VDR）的几种单核苷酸多态性（SNP）与对各种病理的易感性有关。包括自闭症,严重的抑郁症,与年龄相关的认知功能变化，帕金森氏症和老年痴呆症。这项研究旨在建立来自意大利中部非临床青少年的Fok1/Apa1多态性变异与焦虑/抑郁症状之间的关联。目的是确定出现这两种症状的风险。我们发现，在具有焦虑/抑郁症状的受试者和对照组之间，Fok1/Apa1VDR多态性变异的基因型分布或显性/隐性模型没有显着差异。携带Fok1的AA基因型和Apa1的CC基因型的HN9.10e细胞系对维生素D3的治疗反应比携带Fok1的AG基因型和Apa1的CA基因型的细胞系更好。携带Fok1的GG基因型和Apa1的AA基因型的细胞系根本没有反应，为普通人群和患有精神和/或神经精神疾病的个体的未来研究提供了途径。这些研究表明，为预防和/或治疗精神或神经障碍而施用的对维生素D3的反应水平可能取决于维生素D受体的多态性变体。
