Center for Deployment Psychology, Uniformed Services University, Bethesda, MD 20814, USA; Department of Psychology, University of Georgia, Athens, GA 30602, USA.
Peter Boris Centre for Addictions Research, McMaster University, Hamilton, ON, Canada L8S4L8; Homewood Research Institute, Homewood Health Centre, Guelph, ON, Canada N1E 6K9.
Psychiatry Res. 2018 Jan;259:398-404. doi: 10.1016/j.psychres.2017.10.047. Epub 2017 Nov 8.
Impulsive personality traits are heritable risk factors and putative endophenotypes for addiction and other psychiatric disorders involving disinhibition. This study examined the genetic basis of impulsive personality traits, defined as scores on the Barratt Impulsiveness Scale (BIS-11) and the UPPS-P Impulsive Behavior Scale (UPPS-P). In 983 healthy young adults of European ancestry, the study examined genetic variation in relation to a combined phenotype of seven subscales based on high phenotypic intercorrelations. The study first tested 14 a priori loci that have previously been associated impulsive personality traits or closely related constructs. Second, the study included an exploratory genome-wide scan (i.e., GWAS), acknowledging that only relatively large effects would be detectable in a sample size of ~ 1000. A priori SNP analyses revealed a significant association between the combined impulsivity phenotype and two SNPs within the 5-HT2a receptor gene (HTR2A; rs6313 and rs6311). Follow-up analyses suggested that the effects were specific to the Motor and Non-planning subscales on the BIS-11, and also that the two loci were in linkage disequilibrium. The GWAS yielded no statistically significant findings. This study further implicates loci within HTR2A with certain forms of self-reported impulsivity and identifies candidates for future investigation from the genome-wide analyses.
冲动人格特质是成瘾和其他涉及抑制障碍的精神障碍的遗传风险因素和假定的内表型。本研究探讨了冲动人格特质的遗传基础，冲动人格特质定义为巴雷特冲动量表（BIS-11）和 UPPS-P 冲动行为量表（UPPS-P）的得分。在 983 名具有欧洲血统的健康年轻成年人中，该研究研究了遗传变异与基于高表型相关性的七个亚量表综合表型之间的关系。该研究首先测试了先前与冲动人格特质或密切相关结构相关的 14 个先验基因座。其次，该研究包括了探索性的全基因组扫描（即 GWAS），承认在大约 1000 个样本大小的样本中只能检测到相对较大的影响。先验 SNP 分析显示，综合冲动表型与 5-HT2a 受体基因（HTR2A；rs6313 和 rs6311）内的两个 SNP 之间存在显著关联。后续分析表明，这些影响特定于 BIS-11 的运动和非计划子量表，并且这两个位点处于连锁不平衡状态。GWAS 未发现具有统计学意义的发现。本研究进一步表明，HTR2A 内的基因座与某些形式的自我报告冲动有关，并确定了来自全基因组分析的未来研究的候选基因。
