Guo Tianyou, Wang Weiqian, Liu Bing, Chen Hong, Yang Chuang
Department of Psychology, Normal College, Shenzhen University, Shenzhen, Guangdong Province, China.
J Int Med Res. 2013 Jun;41(3):725-34. doi: 10.1177/0300060513479871. Epub 2013 Apr 15.
Autism spectrum disorders (ASD) are a family of childhood-onset neurodevelopmental disorders with complex genetic mechanisms underlying their aetiology. The aim of this case-control study was to evaluate the effect of the catechol-O-methyltransferase (COMT) gene Val158Met polymorphism on ASD risk in a Chinese Han population.
The COMT gene Val158Met polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in children (≤ 18 years old) with ASD and healthy control subjects.
The frequency of the Val158/Val158 genotype in children with ASD (22/186; 11.8%) was significantly lower than in controls (38/186; 20.4%). When stratifying by select-item scores on the Autism Diagnostic Interview-Revised protocol, it was found that children with 'current overactivity' and 'ever overactivity' had a significantly lower frequency of the Val158/Val158 genotype than those without. There were no significant associations between the COMT gene Val158Met polymorphism and ASD subtypes.
The COMT gene Val158Met polymorphism may be a biomarker for phenotypic variation in ASD, but these preliminary findings remain tentative, pending replication in larger, independent samples.
自闭症谱系障碍（ASD）是一类起病于儿童期的神经发育障碍，其病因具有复杂的遗传机制。本病例对照研究旨在评估儿茶酚-O-甲基转移酶（COMT）基因Val158Met多态性对中国汉族人群患ASD风险的影响。
采用聚合酶链反应-限制性片段长度多态性方法检测ASD患儿（≤18岁）及健康对照者的COMT基因Val158Met多态性。
ASD患儿中Val158/Val158基因型的频率（22/186；11.8%）显著低于对照组（38/186；20.4%）。根据修订版自闭症诊断访谈量表的选项目得分进行分层时发现，有“当前多动”和“既往多动”的患儿中Val158/Val158基因型的频率显著低于无此类情况的患儿。COMT基因Val158Met多态性与ASD亚型之间无显著关联。
COMT基因Val158Met多态性可能是ASD表型变异的一个生物标志物，但这些初步发现仍具有试探性，有待在更大规模的独立样本中进行重复验证。
