Aftanas Lyubomir I, Anisimenko Maksim S, Berdyugina Darya A, Garanin Aleksandr Yu, Maximov Vladimir N, Voevoda Mikhail I, Vyalova Natalya M, Bokhan Nikolay A, Ivanova Svetlana A, Danilenko Konstantin V, Kovalenko Sergei P
Institute of Physiology and Basic Medicine, Novosibirsk, Russia.
Institute of Medicine and Psychology, Novosibirsk State University, Novosibirsk, Russia.
Front Genet. 2019 Jan 4;9:686. doi: 10.3389/fgene.2018.00686. eCollection 2018.
Depressive disorder (DD) is a widespread mental disorder. Although DD is to some extent inherited, the genes contributing to the risk of this disorder and its genetic mechanisms remain poorly understood. A recent large-scale genome-wide association Chinese study revealed a strong association between the gene variants and DD. The aim of this study was to analyze the occurrence of heterozygote carriers and search for rare SNP variants of the gene in a cohort of DD patients as compared with a cohort of randomly selected members of the Russian population. The complete coding sequences of the gene from 1024 DNA samples from the general Russian population and from 244 samples from patients with DD were analyzed using targeted sequencing. Four new genetic variants of the were discovered. While no significant differences in the allele frequencies were found between the DD patients and the general population, differences between the frequencies of homozygote carriers of specific alleles and occurrences of heterozygous were found to be significant for rs2236318 ( < 0.0001), and putatively, rs7896005 ( < 0.05), and rs36107781 ( < 0.05). The study found for the first time that two new SNPs (i.e., 10:69665829 and 10:69665971) along with recently reported ones (rs773025707 and rs34701705), are putatively associated with DD. The revealed DD-associated SNPs might confer susceptibility to this disorder in Russian population of European descent.
抑郁症（DD）是一种广泛存在的精神障碍。尽管DD在一定程度上是可遗传的，但导致这种疾病风险的基因及其遗传机制仍知之甚少。最近一项大规模的全基因组关联中国研究揭示了基因变异与DD之间存在强关联。本研究的目的是分析杂合子携带者的出现情况，并在一组DD患者中寻找该基因的罕见单核苷酸多态性（SNP）变异，与一组随机选择的俄罗斯人群成员进行比较。使用靶向测序分析了来自俄罗斯普通人群的1024个DNA样本和来自DD患者的244个样本中该基因的完整编码序列。发现了该基因的四个新遗传变异。虽然在DD患者和普通人群之间未发现等位基因频率有显著差异，但发现特定等位基因的纯合子携带者频率与杂合子出现频率之间的差异对于rs2236318（P<0.0001）、推测对于rs7896005（P<0.05）和rs36107781（P<0.05）具有显著性。该研究首次发现两个新的单核苷酸多态性（即10:69665829和10:69665971）以及最近报道的那些（rs773025707和rs34701705）推测与DD相关。所揭示的与DD相关的单核苷酸多态性可能使欧洲血统的俄罗斯人群易患这种疾病。
