Division of Systems Medical Science, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, 470-1192, Japan.
Genequest Inc., 5-29-11 Shiba, Minato Ward, Tokyo, 108-0014, Japan.
Transl Psychiatry. 2019 Jan 31;9(1):52. doi: 10.1038/s41398-019-0383-z.
Major depressive disorder (MDD) is a common and disabling psychiatric disorder. A recent mega analysis of genome-wide association studies (GWASs) identified 44 loci associated with MDD, though most of the genetic etiologies of the MDD/psychological distress remain unclear. To further understand the genetic basis of MDD/psychological distress, we conducted a GWAS in East Asia with more than 10,000 participants of Japanese ancestry who had enrolled in a direct-to-consumer genetic test. After quality control on the genotype data, 10,330 subjects with a total of 8,567,708 imputed SNPs were eligible for the analysis. The participants completed a self-administered questionnaire on their past medical history and health conditions that included the 6-item Kessler screening scale (K6 scale) for psychological distress (cut-off point of 5) and past medical history of MDD, resulting in 3981 subjects assigned to "psychologically distressed group" [cases], and the remaining 6349 subjects were assigned to the "non-psychologically distressed group" [controls]. In this GWAS, we found an association with genome-wide significance at rs6073833 (P = 7.60 × 10) in 20q13.12. This is, to the best of our knowledge, the first large-scale GWAS for psychological distress using data from direct-to-consumer (DTC) genetic tests in a population of non-European-ancestry, and the present study thus detected a novel locus significantly associated with psychological distress in the Japanese population.
重度抑郁症（MDD）是一种常见且使人丧失能力的精神疾病。最近对全基因组关联研究（GWAS）的大型分析确定了与 MDD 相关的 44 个位点，尽管 MDD/心理困扰的大多数遗传病因仍不清楚。为了进一步了解 MDD/心理困扰的遗传基础，我们在东亚进行了一项 GWAS，参与者是 10000 多名有日本血统的直接面向消费者的基因测试参与者。对基因型数据进行质量控制后，有 10330 名受试者，共 8567708 个经估算的 SNP 符合分析条件。参与者完成了一份关于他们过去的医疗史和健康状况的自我管理问卷，其中包括 6 项 Kessler 筛选量表（K6 量表）的心理困扰（5 分的临界值）和过去的 MDD 病史，这导致 3981 名受试者被分配到“心理困扰组”[病例]，其余 6349 名受试者被分配到“非心理困扰组”[对照]。在这项 GWAS 中，我们在 20q13.12 发现了与全基因组显著相关的 rs6073833（P=7.60×10）。据我们所知，这是首次使用非欧洲血统人群的直接面向消费者（DTC）基因测试数据进行的心理困扰的大规模 GWAS，本研究因此在日本人群中检测到与心理困扰显著相关的新基因座。
