Student Research Committee, Birjand University of Medical Sciences, Birjand, Iran; Department of Medical Immunology, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran.
Faculty of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Gene. 2020 Jan 10;723:144133. doi: 10.1016/j.gene.2019.144133. Epub 2019 Oct 4.
Autism spectrum disorder (ASD) is one of the neurodevelopmental and cognitive conditions that involves 1 in 160 children around the world. Several studies showed that there is a relationship between vitamin D receptor (VDR) gene polymorphisms with the neurodevelopmental behavioral disorders. In the current study, we aimed to highlight the association of VDR gene polymorphisms (FokI and TaqI) with the risk of autism in Birjand population.
In this case-control study eighty-one patients recognized with ASD and one hundred-eight healthy controls were recruited to the study from 2017 to 2018. Genotyping was carried out by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) technique for all subjects.
Calculated odds ratio and P-value for the alleles of VDR gene FokI and TaqI variants between autistic patients and controls did not show a significant difference (P > 0.05). However, calculated homozygous recessive (tt) for TaqI polymorphism was statistically significant (P = 0.015) in control group and there was also statistically meaningful difference in both case and control groups in ft haplotype (P = 0.04).
These results provide preliminary evidence that genetic variants of the VDR gene (FokI and TaqI) might have a possible reduced risk of ASD occurrence in children. The additional examination is needed to acquire more decisive and precise results in this area.
自闭症谱系障碍（ASD）是一种神经发育和认知障碍，全球每 160 名儿童中就有 1 名患有这种障碍。多项研究表明，维生素 D 受体（VDR）基因多态性与神经发育行为障碍之间存在关联。在本研究中，我们旨在强调 VDR 基因多态性（FokI 和 TaqI）与比尔詹德人群自闭症风险之间的关联。
在这项病例对照研究中，我们于 2017 年至 2018 年招募了 81 名被确诊为 ASD 的患者和 108 名健康对照者。对所有受试者进行聚合酶链反应（PCR）后限制性片段长度多态性（PCR-RFLP）技术进行基因分型。
在自闭症患者和对照组中，VDR 基因 FokI 和 TaqI 变体的等位基因计算出的优势比和 P 值没有显示出显著差异（P＞0.05）。然而，TaqI 多态性的纯合隐性（tt）在对照组中具有统计学意义（P=0.015），并且在病例组和对照组中，ft 单倍型也存在统计学上有意义的差异（P=0.04）。
这些结果提供了初步证据，表明 VDR 基因（FokI 和 TaqI）的遗传变异可能降低儿童患 ASD 的风险。在这一领域需要进一步的检查以获得更具决定性和精确的结果。
