Zalar B, Blatnik A, Maver A, Klemenc-Ketiš Z, Peterlin B
University Psychiatric Hospital Ljubljana, Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana Slovenia.
Department of Family Medicine, Maribor Medical School, Maribor, Slovenia.
Balkan J Med Genet. 2018 Oct 29;21(1):5-12. doi: 10.2478/bjmg-2018-0010. eCollection 2018 Jun.
Depression is estimated to affect 350 million people worldwide. The World Mental Health Survey conducted in 17 countries found that, on average, about one in 20 people reported having an episode of depression in the previous year. Although depression has been shown to be moderately heritable by studies conducted in the past, the search for its so-called missing heritability has so far been unsuccessful. The difficulty in identifying common genetic variants predisposing to depression could be due to large sample sizes needed to detect small effects on genetic risk and the heterogeneous nature of major depressive disorder (MDD). The aim of our study was to determine whether there was a connection between a family history of depression in MDD patients and the presence of putative risk variants in the well-studied , and genes. We analyzed 133 patients with MDD (30.0% with a positive family history for MDD and 70.0% sporadic cases) and compared them to 279 healthy controls. When comparing all the depressed patients to controls, no significant differences in genotype and allele distributions were detected. After stratifying patients according to their family history, the rs2522833 C allele was shown to be significantly less common in patients with a positive family history ( = 0.001), indicating a possible difference in the genetic structure of MDD between familial and sporadic cases and a less important role of the common genetic risk variants for the development of MDD in familial cases.
据估计，抑郁症在全球影响着3.5亿人。在17个国家进行的世界心理健康调查发现，平均而言，约每20人中就有1人报告在前一年有过抑郁发作。尽管过去的研究表明抑郁症具有中度遗传性，但迄今为止寻找其所谓的“缺失遗传性”的努力尚未成功。难以识别导致抑郁症的常见基因变异可能是由于需要大样本量来检测对遗传风险的微小影响以及重度抑郁症（MDD）的异质性。我们研究的目的是确定MDD患者的抑郁症家族史与经过充分研究的 、 和 基因中假定风险变异的存在之间是否存在关联。我们分析了133例MDD患者（30.0%有MDD家族史阳性，70.0%为散发病例），并将他们与279名健康对照进行比较。将所有抑郁症患者与对照进行比较时，未检测到基因型和等位基因分布的显著差异。根据家族史对患者进行分层后，发现rs2522833 C等位基因在家族史阳性的患者中显著不常见（ = 0.001），这表明家族性和散发性病例中MDD的遗传结构可能存在差异，并且常见遗传风险变异在家族性病例中对MDD发生发展的作用较小。
