OBJECTIVE Our recent genetic-neuroimaging study observed that the rs1799724 polymorphism within the TNFA gene encoding TNF-α selectively affects the anatomy of visual cortex in patients with MDD. In this study, we hypothesized that TNFA is risk factor to MDD, and TNFA rs1799724 polymorphism may be a susceptibility locus for this disorder and its clinical features. METHODS We enrolled 807 MDD samples and 822 healthy volunteers in Eastern China. There were 104 drug-naïve first episode MDD patients recruited. The Hamilton Rating Scale for Depression -17 (HRSD-17) and Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) were performed to evaluate the severity of depressive symptoms and cognitive function, respectively. RESULTS Patients with MDD have higher levels of TNFA than healthy controls (F = 20.78, P < 0.01). There were no significant differences in genotype or allele distributions of the rs1799724 polymorphism between the MDD and control groups. MDD patients with T/T or T/C genotypes of rs1799724 polymorphism have higher somatic factor and total scores of HAMD than those with C/C genotype. The patients with T/T or T/C genotypes have significantly higher TNFA mRNA levels than those with C/C genotype (F = 4.91, P = 0.029). CONCLUSION Our findings supported that TNFA may have an important role in the pathophysiology of MDD. Although SNP rs1799724 is not an etiological factor for MDD in Han Chinese, this SNP may be associated with somatic symptom in patients with MDD.

中文翻译：

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TNFA影响汉族MDD风险及临床特征的鉴定

目的 我们最近的遗传神经影像学研究观察到，编码 TNF-α 的 TNFA 基因内的 rs1799724 多态性选择性地影响 MDD 患者视觉皮层的解剖结构。在这项研究中，我们假设 TNFA 是 MDD 的危险因素，并且 TNFA rs1799724 多态性可能是该疾病及其临床特征的易感位点。方法 我们在华东地区招募了 807 名 MDD 样本和 822 名健康志愿者。招募了 104 名初次用药的 MDD 患者。汉密尔顿抑郁量表-17 (HRSD-17) 和神经心理状态评估可重复电池 (RBANS) 分别用于评估抑郁症状的严重程度和认知功能。结果 MDD 患者的 TNFA 水平高于健康对照组（F = 20.78，P < 0.01）。MDD组和对照组之间rs1799724多态性的基因型或等位基因分布没有显着差异。rs1799724多态性T/T或T/C基因型MDD患者体细胞因子和HAMD总分高于C/C基因型患者。T/T 或 T/C 基因型患者的 TNFA mRNA 水平显着高于 C/C 基因型患者（F = 4.91，P = 0.029）。结论 我们的研究结果支持 TNFA 可能在 MDD 的病理生理学中起重要作用。尽管 SNP rs1799724 不是汉族 MDD 的病因因素，但该 SNP 可能与 MDD 患者的躯体症状有关。rs1799724多态性T/T或T/C基因型MDD患者体细胞因子和HAMD总分高于C/C基因型患者。T/T 或 T/C 基因型患者的 TNFA mRNA 水平显着高于 C/C 基因型患者（F = 4.91，P = 0.029）。结论 我们的研究结果支持 TNFA 可能在 MDD 的病理生理学中起重要作用。尽管 SNP rs1799724 不是汉族 MDD 的病因因素，但该 SNP 可能与 MDD 患者的躯体症状有关。rs1799724多态性T/T或T/C基因型MDD患者体细胞因子和HAMD总分高于C/C基因型患者。T/T 或 T/C 基因型患者的 TNFA mRNA 水平显着高于 C/C 基因型患者（F = 4.91，P = 0.029）。结论 我们的研究结果支持 TNFA 可能在 MDD 的病理生理学中起重要作用。尽管 SNP rs1799724 不是汉族 MDD 的病因因素，但该 SNP 可能与 MDD 患者的躯体症状有关。