孤独症严重程度与单胺氧化酶A功能多态性的关联。
Association of autism severity with a monoamine oxidase A functional polymorphism.
作者信息
Cohen I L, Liu X, Schutz C, White B N, Jenkins E C, Brown W T, Holden J J A
机构信息
Departments of Psychology, Cytogenetics and Human Genetics, Staten Island, New York 10314, USA.
出版信息
Clin Genet. 2003 Sep;64(3):190-7. doi: 10.1034/j.1399-0004.2003.00115.x.
A functional polymorphism (the upstream variable-number tandem repeat region, or uVNTR) in the monoamine oxidase A (MAOA) promoter region has been reported to be associated with behavioral abnormalities as well as increased serotonergic responsivity. We examined the relation between MAOA-uVNTR alleles and the phenotypic expression of autism in 41 males younger than 12.6 years of age. Children with the low-activity MAOA allele had both lower intelligence quotients (IQ) and more severe autistic behavior than children with the high-activity allele. In follow-up testing of 34 of the males at the 1-year time-point, those with the low-activity allele showed a worsening in IQ but no change in the severity of their autistic behavior. We conclude that functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in males.
据报道，单胺氧化酶A（MAOA）启动子区域的一种功能性多态性（上游可变数目串联重复序列区域，或uVNTR）与行为异常以及血清素反应性增加有关。我们研究了41名年龄小于12.6岁男性的MAOA-uVNTR等位基因与自闭症表型表达之间的关系。与高活性等位基因的儿童相比，具有低活性MAOA等位基因的儿童智商较低，自闭症行为也更严重。在对其中34名男性进行的1年时间点的随访测试中，具有低活性等位基因的男性智商下降，但自闭症行为严重程度没有变化。我们得出结论，功能性MAOA-uVNTR等位基因可能是男性自闭症严重程度的一种基因修饰因子。
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