Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region polymorphism
Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region polymorphism
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DOI：
10.1176/appi.ajp.160.4.671
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发表时间：
2003-04-01
影响因子：
17.7
通讯作者：
Ebstein, RP
中科院分区：
文献类型：
--
作者：
Arbelle, S;Benjamin, J;Ebstein, RP
目的：研究表明，遗传因素是导致害羞和社交恐惧症的重要因素。为了进一步阐明害羞的遗传结构，作者研究了4个具有生物学意义的导致这种表型形成的功能多态：5-羟色胺转运体启动子区44碱基对插入/缺失(5-HTTLPR)、多巴胺D-4受体外显子III重复(DRD4)、儿茶酚O-甲基转移酶(COMT)和单胺氧化酶A启动子区重复(MAO(A))。方法：作者招募了一个非临床样本(N=118，未筛查的二年级儿童)，用从儿童、家长和教师的问卷中得出的复合量表评估害羞。用聚合酶链式反应方法对98名儿童的口腔涂片DNA进行5-HTTLPR、DRD4、COMT和MAO(A)基因分型。结果：父母、教师和儿童的害羞程度与父母、教师和儿童的害羞程度显著相关，Cronbach‘sα信度在三个量表上都很高。无论是通过Lesch的功能分类，还是通过考虑所有三种基因类型，都发现5-HTTLPR长多态与害羞之间存在显著的关联。结论：本研究暂时确定了一种常见的基因多态，即5-HTTLPR，在非临床组的二年级学生中，5-HTTLPR适度地(效应量=7%)对较高的害羞得分有贡献。这些第一个发现可能与之前的报告相关，这些报告表明5-HTTLPR长型与强迫症和自闭症之间存在联系。
Objective: Studies have shown that genetic factors are significant in predisposing individuals to shyness and social phobia. Toward further elucidating the genetic structure of shyness, the authors examined four functional polymorphisms that make biological sense for contributing to the development of this phenotype: serotonin transporter promoter region 44 base pair insertion/deletion (5-HTTLPR), dopamine D-4 receptor exon III repeat (DRD4), catechol O-methyltransferase (COMT), and monoamine oxidase A promoter region repeat (MAO(A)).Method: The authors assessed shyness after recruitment of a nonclinical sample (N=118, unscreened second-grade children) using a composite scale derived from questionnaires administered to the children, parents, and teachers. DNA from buccal smears successfully obtained from 98 children was genotyped by polymerase chain reaction methods for the 5-HTTLPR, DRD4, COMT, and MAO(A) polymorphisms.Results: Significant correlations were observed for parents', teachers', and children's ratings of shyness, and Cronbach's alpha reliability was high for all three scales. A significant association was observed between the long 5-HTTLPR polymorphism and shyness, both by the functional classification of Lesch as well as by consideration of all three genotypes. No significant association was observed for the DRD4, COMT, or MAOA polymorphisms.Conclusions: This study provisionally identifies a common genetic polymorphism, 5-HTTLPR, that modestly (effect size=7%) contributed to greater shyness scores in a nonclinical group of second-grade students. These first findings may be relevant to previous reports that have shown an association between the 5-HTTLPR long form and obsessive-compulsive disorder and autism.