Boo Young Jun, Park Chun Il, Kim Hae Won, Kim Se Joo, Kang Jee In
Department of Psychiatry, Yonsei University College of Medicine, Seoul, Republic of Korea.
Institute of Behavioral Science in Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Psychiatry Investig. 2019 Jan;16(1):87-92. doi: 10.30773/pi.2018.10.02. Epub 2019 Jan 7.
Ubiquitin-specific peptidase 46 gene (USP46) polymorphisms is part of ubiquitin-proteasome system, which is responsible for dynamic cellular processes such as the regulation of cell cycle. USP46 has been reported to be associated with major depressive disorder. The objective of the present study was to investigate the association of USP46 polymorphisms with affective temperamental traits in healthy subjects.
A total of 557 Korean healthy volunteers were recruited, and 545 subjects (328 male, 217 female) were included in the final analysis. The DNA of the subjects was isolated from saliva samples. Two single-nucleotide polymorphisms (SNPs) rs346005, rs2244291 in USP46 were genotyped. Affective temperaments were assessed using the Korean version of Temperament Evaluation of the Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A).
A significant association was found between rs346005 genotypes and TEMPS-A only in male subjects. In particular, subjects with the CC genotype of rs346005 showed a more depressive temperament than subjects with AA or CA genotypes in males. For rs2244291, there were no associations between the rs2244291 genotypes and TEMPS-A scores.
Some affective temperaments may serve as a genetic predisposing factors for affective disorders, such as depressive disorder, via vulnerability genes related to the ubiquitin-proteasome system.
泛素特异性肽酶46基因（USP46）多态性是泛素-蛋白酶体系统的一部分，该系统负责细胞周期调控等动态细胞过程。据报道，USP46与重度抑郁症有关。本研究的目的是调查健康受试者中USP46多态性与情感气质特征之间的关联。
共招募了557名韩国健康志愿者，最终分析纳入545名受试者（328名男性，217名女性）。从唾液样本中提取受试者的DNA。对USP46中的两个单核苷酸多态性（SNP）rs346005、rs2244291进行基因分型。使用孟菲斯、比萨、巴黎和圣地亚哥自动问卷气质评估（TEMPS-A）韩文版评估情感气质。
仅在男性受试者中发现rs346005基因型与TEMPS-A之间存在显著关联。特别是，rs346005的CC基因型男性受试者比AA或CA基因型男性受试者表现出更抑郁的气质。对于rs2244291，rs2244291基因型与TEMPS-A评分之间没有关联。
一些情感气质可能通过与泛素-蛋白酶体系统相关的易感性基因，作为情感障碍（如抑郁症）的遗传易感性因素。
