Polygenic inheritance of Tourette syndrome, stuttering, attention deficit hyperactivity, conduct, and oppositional defiant disorder: the additive and subtractive effect of the three dopaminergic genes--DRD2, D beta H, and DAT1.
Polygenic inheritance of Tourette syndrome, stuttering, attention deficit hyperactivity, conduct, and oppositional defiant disorder: the additive and subtractive effect of the three dopaminergic genes--DRD2, D beta H, and DAT1.
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DOI：
10.1002/(sici)1096-8628(19960531)67:3
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发表时间：
1996-05
期刊：
影响因子：
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通讯作者：
D. Comings;S. Wu;Connie Chiu;Robert H. Ring;R. Gade;Chul Ahn;J. Macmurray;G. Dietz;D. Muhleman
中科院分区：
文献类型：
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作者：
D. Comings;S. Wu;Connie Chiu;Robert H. Ring;R. Gade;Chul Ahn;J. Macmurray;G. Dietz;D. Muhleman
在抽动秽语综合征（TS）先证者及其亲属和对照组中检测了三种不同多巴胺能基因的多态性，即多巴胺D2受体（DRD 2）、多巴胺β-羟化酶（D β H）和多巴胺转运蛋白（DAT 1）。每个基因单独显示出与这些受试者的各种行为变量显着相关。通过对同一组受试者中的所有三个基因进行基因分型来检查这三个基因的加性和减性效应。20例TS相关共病行为中有9例的3个基因标记物的负荷程度与平均行为评分呈显著线性相关。行为变量显示显着的关联，在注意缺陷多动障碍（ADHD），口吃对立违抗，抽搐，行为，强迫症，躁狂症，酗酒和一般的焦虑行为，构成了最明显的临床方面的TS。对于20个行为评分中的16个，三个基因标记物的平均评分线性进行性降低，负荷逐渐降低。这些结果表明，TS，ADHD，口吃对立违抗和行为障碍，以及其他行为与TS，是多基因的，部分是由于这三个多巴胺能基因，和其他多基因精神疾病的遗传学可能会使用这种技术破译。
Polymorphisms of three different dopaminergic genes, dopamine D2 receptor (DRD2), dopamine beta-hydroxylase (D beta H), and dopamine transporter (DAT1), were examined in Tourette syndrome (TS) probands, their relatives, and controls. Each gene individually showed a significant correlation with various behavioral variables in these subjects. The additive and substractive effects of the three genes were examined by genotyping all three genes in the same set of subjects. For 9 of 20 TS associated comorbid behaviors there was a significant linear association between the degree of loading for markers of three genes and the mean behavior scores. The behavior variables showing the significant associations were, in order attention deficit hyperactivity disorder (ADHD), stuttering oppositional defiant, tics, conduct, obsessive-compulsive, mania, alcohol abuse and general anxiety-behaviors that constitute the most overt clinical aspects of TS. For 16 of the 20 behavior scores there was a linear progressive decrease in the mean score with progressively lesser loading for the three gene markers. These results suggest that TS, ADHD, stuttering oppositional defiant and conduct disorder, and other behaviors associated with TS, are polygenic, due in part to these three dopaminergic genes, and that the genetics of other polygenic psychiatric disorders may be deciphered using this technique.