Robinson Research Institute, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia; Mind and Brain Theme, South Australian Health and Medical Research Institute, North Terrace, Adelaide, SA 5000, Australia; School of Medicine, Faculty of Medicine, Nursing and Health Sciences, Flinders University, Bedford Park, SA 5042, Australia.
Discipline of Psychiatry, Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.
J Affect Disord. 2018 May;232:305-309. doi: 10.1016/j.jad.2018.02.046. Epub 2018 Feb 24.
Major depressive disorder (MDD) is a leading contributor to global disease burden. Recent studies have shown that genetic factors play significant roles in the susceptibility to this condition; however, the underlying genetic basis currently remains largely unknown. Short tandem repeat (STR) has been proposed as an explanatory factor in the "missing heritability" of complex diseases or traits.
We investigated STR variations from 15 MDD patients and 10 ethnically matched healthy controls based on their deep whole-genome sequencing (WGS) data. The lobSTR software was used to computationally determine STRs.
The results of the Mexican-American sample showed that STRs are significantly richer in healthy controls than in MDD cases on each of the 23 chromosomes (all false discovery rates, FDR P-values < 0.0062); while for the Australian of European-ancestry sample, there was no statistically significant STRs difference between MDD cases and controls.
High quality WGS costs limited obtaining larger datasets.
This preliminary work is the first study that STR variations are applied to investigate MDD based on WGS data. The results on Mexican-American population may imply that within the same ancestry, targeted sequencing on a specific chromosome or region of genome would be sufficient for examining the relationship between STR and MDD. Further studies should examine larger sequencing datasets on other ethnic groups.
重度抑郁症（MDD）是导致全球疾病负担的主要原因之一。最近的研究表明，遗传因素在易感性方面起着重要作用；然而，其潜在的遗传基础目前仍知之甚少。短串联重复（STR）已被提出作为复杂疾病或特征“遗传缺失”的解释因素。
我们根据 15 名 MDD 患者和 10 名种族匹配的健康对照者的深度全基因组测序（WGS）数据，调查了 STR 变异。LobSTR 软件用于计算确定 STR。
墨西哥裔美国人样本的结果表明，在每个 23 条染色体上，STR 在健康对照组中明显比 MDD 病例中更为丰富（所有假发现率 FDR P 值<0.0062）；而对于澳大利亚欧洲血统的样本，MDD 病例和对照组之间没有统计学上显著的 STR 差异。
高质量的 WGS 成本限制了更大数据集的获取。
这项初步工作是第一项应用 STR 变异基于 WGS 数据研究 MDD 的研究。在墨西哥裔美国人中的结果可能意味着，在同一祖先中，对特定染色体或基因组区域进行靶向测序对于检查 STR 和 MDD 之间的关系就足够了。应进一步研究其他种族的更大测序数据集。
