Department of Genetics, Faculty of Biology, University of Valencia, C/ Doctor Moliner 50, Burjassot, Spain.
Genes Brain Behav. 2011 Jul;10(5):570-8. doi: 10.1111/j.1601-183X.2011.00696.x. Epub 2011 May 31.
Genetic studies on human personality have provided little satisfactory results to date mainly because of the complexity of this trait. Neonatal temperament using observational measures is an alternative phenotype to approach genetics to human behavior. An association study was conducted on 117 Caucasian newborns. Their temperament was evaluated using the Neonatal Behavior Assessment Scale 48 h after birth. Thirteen polymorphisms in the SLC6A4, DRD4 and TFAP2B genes were genotyped. Linear regression was performed to analyze data, and Bonferroni correction was applied. To check the functional effect of the TFAP2B Indel Intron 2 polymorphism, reporter gene luciferase assays using a mouse cortical neural progenitor cell line and quantitative polymerase chain reaction (qPCR) studies in human post-mortem brain samples were performed. A significant association was found between 5-HTTLPR, 5-HTTLPR + rs25531 and TFAP2B Indel Intron 2 with Range of State cluster as well as an interaction between rs25531 and TFAP2B Indel Intron 2 with Range of State. DRD4 variable number tandem repeat exon 3 was associated with orientation. A 30% increase in the luciferase levels of the TFAP2B 5-repeat alleles compared with the 6-repeat alleles (P-value = 0.03) was found using the pGL3 promoter vector. The qPCR experiments showed the same trend as the in vitro studies, although no significant results were obtained. This study supports a role of the SLC6A4, DRD4 and TFAP2B genes in the temperament, including a gene-gene interaction between SLC6A4 and TFAP2B. It also provides evidence about an effect of the TFAP2B polymorphism in TFAP2B gene transcription.
目前，对人类人格的遗传研究提供的结果并不令人满意，主要是因为这种特质的复杂性。使用观察性测量的新生儿气质是一种替代表型，可用于研究人类行为的遗传学。对 117 名白种新生儿进行了一项关联研究。他们的气质在出生后 48 小时使用新生儿行为评估量表进行评估。对 SLC6A4、DRD4 和 TFAP2B 基因中的 13 个多态性进行了基因分型。使用线性回归分析数据，并应用 Bonferroni 校正。为了检查 TFAP2B 内含子 2 插入缺失多态性的功能效应，使用小鼠皮质神经祖细胞系进行了报告基因荧光素酶测定，并在人死后脑组织样本中进行了定量聚合酶链反应（qPCR）研究。发现 5-HTTLPR、5-HTTLPR+rs25531 与 TFAP2B 内含子 2 插入缺失与状态范围簇以及 rs25531 与 TFAP2B 内含子 2 插入缺失与状态范围之间的相互作用之间存在显著关联。DRD4 可变数串联重复序列 3 与定向有关。使用 pGL3 启动子载体发现 TFAP2B 5 重复等位基因的荧光素酶水平比 6 重复等位基因增加 30%（P 值=0.03）。qPCR 实验显示与体外研究相同的趋势，尽管没有得到显著结果。这项研究支持 SLC6A4、DRD4 和 TFAP2B 基因在气质中的作用，包括 SLC6A4 和 TFAP2B 之间的基因-基因相互作用。它还提供了 TFAP2B 多态性对 TFAP2B 基因转录影响的证据。
