Department of Medical Biochemistry, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Res Dev Disabil. 2013 Jul;34(7):2092-7. doi: 10.1016/j.ridd.2013.04.002. Epub 2013 Apr 30.
Catechol-O-methyltransferase (COMT) plays an important role in the catabolism of brain dopamine and norepinephrine, which have been implicated in the pathogenesis of Autism spectrum disorder (ASD) as well as in other neuropsychatric disorders. We aimed to investigate the association of COMT Val158Met gene polymorphism with ASD and to examine the influence of such genotypes on hyperactivity symptoms in ASD patients. Eighty ASD patients (mean age 9 ± 1.9 years) and 100 control children (mean age 8.9 ± 1.9 years) were examined. COMT Val58Met polymorphism was genotyped using Tetra-primer ARMS-PCR method. The clinical diagnosis of ASD and ADHD were confirmed according to the DSM-IV criteria for research. We found no significant difference in genotypes or alleles' frequencies of COMT Val158Met polymorphism between ASD patients and control group. There was a significant association between COMT (Val/Val) genotype and both increasing CARS (p=0.001) and hyperactivity scores (p=0.006). Regarding Conner's Score, the DSM-IV hyperactive impulsive were significantly higher in Val/Val genotype than both Met/Val and Met/Met genotypes (p=0.03). Our data suggested an association between COMT Val58Met polymorphism and hyperactivity symptoms in Egyptian children with ASD.
儿茶酚氧位甲基转移酶（COMT）在大脑多巴胺和去甲肾上腺素的分解代谢中发挥重要作用，多巴胺和去甲肾上腺素与自闭症谱系障碍（ASD）的发病机制以及其他神经精神障碍有关。我们旨在研究 COMT Val158Met 基因多态性与 ASD 的关系，并研究这些基因型对 ASD 患者多动症状的影响。我们检查了 80 名 ASD 患者（平均年龄 9±1.9 岁）和 100 名对照组儿童（平均年龄 8.9±1.9 岁）。使用 Tetra-primer ARMS-PCR 方法对 COMT Val58Met 多态性进行基因分型。根据 DSM-IV 研究标准，对 ASD 和 ADHD 的临床诊断进行了确认。我们发现 ASD 患者和对照组之间 COMT Val158Met 多态性的基因型或等位基因频率没有显著差异。COMT（Val/Val）基因型与 CARS（p=0.001）和多动评分（p=0.006）均呈显著相关。关于 Conner 评分，DSM-IV 多动冲动在 Val/Val 基因型中明显高于 Met/Val 和 Met/Met 基因型（p=0.03）。我们的数据表明，COMT Val58Met 多态性与埃及 ASD 儿童的多动症状有关。
