Ekelund J, Lichtermann D, Järvelin M R, Peltonen L
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Am J Psychiatry. 1999 Sep;156(9):1453-5. doi: 10.1176/ajp.156.9.1453.
An association between the type 4 dopamine receptor (DRD4) gene and the behavioral trait of novelty seeking has been reported, but several studies have failed to replicate this finding. In the present study, the authors tested for this association in a representative sample from the Finnish population.
The authors administered the Temperament and Character Inventory to 4,773 individuals from the 1966 birth cohort of northern Finland. They then genotyped 190 subjects with extreme scores for a 48 base-pair repeat polymorphism in the DRD4 gene.
There was a significant difference in allele frequencies between the two groups. The 2- and 5-repeat alleles were significantly more common in the group of high scorers than in the group of low scorers.
These results confirm the original findings of an association between the DRD4 gene and novelty seeking, while showing that novelty seeking is probably not influenced by the polymorphism itself but, rather, a different DNA variant in the DRD4 gene or another gene in linkage disequilibrium with it.
有报道称4型多巴胺受体（DRD4）基因与寻求新奇行为特征之间存在关联，但多项研究未能重复这一发现。在本研究中，作者在芬兰人群的代表性样本中测试了这种关联。
作者对来自芬兰北部1966年出生队列的4773人进行了气质和性格量表测试。然后，他们对190名在DRD4基因中48个碱基对重复多态性得分极高的受试者进行了基因分型。
两组之间的等位基因频率存在显著差异。2次和5次重复等位基因在高分者组中比在低分者组中明显更常见。
这些结果证实了DRD4基因与寻求新奇之间存在关联的最初发现，同时表明寻求新奇可能不受多态性本身的影响，而是受DRD4基因中的另一种DNA变异或与其处于连锁不平衡状态的另一个基因的影响。
