Zare Sahar, Mashayekhi Farhad, Bidabadi Elham
Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran.
Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran.
J Clin Neurosci. 2017 May;39:189-192. doi: 10.1016/j.jocn.2017.01.008. Epub 2017 Mar 9.
Autism is a heterogeneous and multifactorial disease that results from the interaction between genetic vulnerability and environmental factors. Several studies showed that many of genes that play role in autism are component of signaling networks that regulate growth and synaptic plasticity, play an important role in the etiology of autism. Contactin associated-like 2 (CNTNAP2) gene is a member of the superfamily of synaptic adhesion proteins and encodes a scaffold protein called CASPR2 that is involved in the interaction of neuron-glia and clusters K channels in myelinated axons. CNTNAP2 is highly expressed during the nervous system development. In this study the association of rs7794745 CNTNAP2 gene polymorphism and autism was investigated. Two hundred patients with autism and 260 healthy individuals were included in this study. Genomic DNA was extracted from peripheral blood cells. Genotypes were analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Statistical analysis was performed using the software MedCalc (12.1). The genotype frequencies of AA, AT, TT were 35.3%, 50.7% and 13.8% in controls and these values were 32% and 68% and 0% in patients with autism, respectively (P=0.0001) (OR=0.01, 95% CI 0.001-0.32). The frequency of A and T alleles were 66%, 34% in patients and 60%, 40% in controls, respectively (P=0.11). The results of this study showed that there is a significant association between rs7794745 CNTNAP2 gene polymorphism and autism in the studied population. However, to obtain a definitive conclusion larger studies with more patients and controls are needed to confirm the results.
自闭症是一种异质性多因素疾病，由遗传易感性与环境因素相互作用导致。多项研究表明，许多在自闭症中起作用的基因是调节生长和突触可塑性的信号网络的组成部分，在自闭症病因学中起重要作用。接触蛋白相关样蛋白2（CNTNAP2）基因是突触粘附蛋白超家族的成员，编码一种名为CASPR2的支架蛋白，该蛋白参与神经元与神经胶质的相互作用以及有髓轴突中K通道的聚集。CNTNAP2在神经系统发育过程中高度表达。本研究调查了CNTNAP2基因rs7794745多态性与自闭症的关联。本研究纳入了200例自闭症患者和260名健康个体。从外周血细胞中提取基因组DNA。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析基因型。使用MedCalc软件（12.1版）进行统计分析。对照组中AA、AT、TT基因型频率分别为35.3%、50.7%和13.8%，自闭症患者中这些值分别为32%、68%和0%（P=0.0001）（OR=0.01，95%CI 0.001-0.32）。患者中A和T等位基因频率分别为66%、34%，对照组中为60%、40%（P=0.11）。本研究结果表明，在研究人群中，CNTNAP2基因rs7794745多态性与自闭症之间存在显著关联。然而，为得出明确结论，需要更多患者和对照的更大规模研究来证实结果。
