Sayad Arezou, Ghafouri-Fard Soudeh, Noroozi Rezvan, Omrani Mir Davood, Ganji Maziar, Dastmalchi Romina, Glassy Mark, Taheri Mohammad
Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
Phytochemistry Research Center, Shahid Beheshti University of Medical sciences, Tehran, Iran.
Rep Biochem Mol Biol. 2019 Apr;8(1):56-62.
Autism spectrum disorders (ASDs) (MIM 209850) are a group of distinct neurodevelopmental disorders characterized by impaired social interactions and communication abilities and abnormal repetitive activities. Many genetic variants have been shown to be associated with ASD. Channelopathies are among putative culprits in the pathogenesis of many neurodevelopmental disorders, including autism. The calcium channel, voltage-dependent, L type, alpha 1C subunit gene () encodes an alpha-1 subunit of a voltage-dependent calcium channel. Genetic variants within this gene have been associated with psychiatric disorders including Autism Spectrum Disorders (ASD). Our aim was to determine whether the SNPs rs1006737, rs4765905, and rs4765913 were associated with ASD in an Iranian population.
In the present case-control study we investigated the associations of rs1006737, rs4765905, and rs4765913 polymorphisms within and the risk of ASD in a population of 529 Iranian ASD patients and 480 age, gender, and ethnicity-matched healthy subjects.
None of these SNPs were associated with ASD risk in the assessed population. Although previous studies have shown an association between these polymorphisms and psychiatric disorders and an association between rs4765905 and ASD, we did not replicate those results in our study.
Our data indicate that these variants are not involved in the pathogenesis of ASD in the Iranian population.
自闭症谱系障碍（ASDs）（MIM 209850）是一组独特的神经发育障碍，其特征为社交互动和沟通能力受损以及异常重复行为。许多基因变异已被证明与自闭症谱系障碍有关。离子通道病是包括自闭症在内的许多神经发育障碍发病机制中的潜在罪魁祸首。电压依赖性L型钙通道α1C亚基基因（）编码电压依赖性钙通道的α-1亚基。该基因内的基因变异与包括自闭症谱系障碍（ASD）在内的精神疾病有关。我们的目的是确定单核苷酸多态性（SNPs）rs1006737、rs4765905和rs4765913是否与伊朗人群中的自闭症谱系障碍有关。
在本病例对照研究中，我们调查了529名伊朗自闭症谱系障碍患者和480名年龄、性别和种族匹配的健康受试者群体中该基因内rs1006737、rs4765905和rs4765913多态性与自闭症谱系障碍风险的关联。
在评估人群中，这些单核苷酸多态性均与自闭症谱系障碍风险无关。尽管先前的研究表明这些多态性与精神疾病之间存在关联，且rs4765905与自闭症谱系障碍之间存在关联，但我们在研究中并未重复这些结果。
我们的数据表明，这些基因变异不参与伊朗人群中自闭症谱系障碍的发病机制。
