Department of Pharmacy, Nanfang Hospital, Southern Medical University, Guangzhou, Postal Code: 510515, China.
Department of Pharmacy, Guangzhou First People's Hospital, Guangzhou, Postal Code: 510180 China.
Neurosci Lett. 2020 Nov 1;738:135361. doi: 10.1016/j.neulet.2020.135361. Epub 2020 Sep 6.
Adult hippocampal neurogenesis has been demonstrated to be associated with the occurrence of major depressive disorder (MDD). A recent study indicated that deletion of the Epac2 gene (RAPGEF4) caused downregulation of hippocampal neurogenesis. This study aimed to analyze the association between genetic variants of the RAPGEF4 gene and the risk of MDD.
We recruited 502 patients with MDD and 504 healthy controls who matched for age and gender. Genomic DNA was extracted from whole blood samples and genotyping was performed by next-generation sequencing. In addition, we conducted subgroup analysis according to the gender and recurrence, respectively.
We found no significant association between RAPGEF4 gene rs3769219 variant and MDD in all subjects. However, the A-allele and GA + AA genotypes at rs3769219 were significantly associated with a reduced risk of MDD in the male population but not in the female population. Similarly, our study identified the A-allele and GA + AA genotypes at rs3769219 as protective factors for recurrent MDD (rMDD).
Our findings suggest that RAPGEF4 gene rs3769219 mutation is associated with a reduced risk of MDD in male population and rMDD in total population.
成年海马神经发生与重度抑郁症（MDD）的发生有关。最近的一项研究表明，Epac2 基因（RAPGEF4）缺失会导致海马神经发生下调。本研究旨在分析 RAPGEF4 基因的遗传变异与 MDD 风险之间的关联。
我们招募了 502 名 MDD 患者和 504 名年龄和性别相匹配的健康对照者。从全血样本中提取基因组 DNA，并通过下一代测序进行基因分型。此外，我们分别根据性别和复发情况进行了亚组分析。
我们发现 RAPGEF4 基因 rs3769219 变体与所有受试者的 MDD 之间没有显著关联。然而，rs3769219 的 A 等位基因和 GA+AA 基因型与男性人群中 MDD 风险降低显著相关，但在女性人群中则没有。同样，我们的研究发现 rs3769219 的 A 等位基因和 GA+AA 基因型是男性和总人群复发性 MDD（rMDD）的保护因素。
我们的研究结果表明，RAPGEF4 基因 rs3769219 突变与男性人群 MDD 风险降低和总人群 rMDD 风险降低有关。
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