Haldar Somnath, Roy Suparna, Sen Santanu, Dasgupta Anindya, Ghosh Srijit
Department of Biochemistry, Calcutta National Medical College, Kolkata, West Bengal, India.
Department of Psychiatry, Calcutta National Medical College, Kolkata, West Bengal, India.
Indian J Psychiatry. 2022 May-Jun;64(3):269-276. doi: 10.4103/indianjpsychiatry.indianjpsychiatry_541_21. Epub 2022 Jun 8.
The Val66Met single nucleotide polymorphism (SNP) of the brain-derived growth factor (BDNF) and deletional mutation of the cytochrome (CYP2D6) have been reported to be linked to the etiology and severity of depressive disorders (DD) in a variable manner among different ethnicities and populations.
The present study was aimed to find the relationship of mutational variations of these two neurotrophins with the severity of DD and their serum cortisol levels as a marker of the stress factor.
In 104 drug-naïve newly diagnosed cases of DD and 106 control subjects, the severity of depression was assessed using the HAM-D score. Val66Met SNP of the BDNF was analyzed in them using restriction digestion of its polymerase chain reaction (PCR) product. deletional variants were detected by the absence of their PCR products. Serum cortisol levels were measured by the enzyme-linked immunosorbent assay (ELISA) technique.
The Chi-square test (Χ = 1.42, = 0.49) did not show any higher prevalence of Val66Met SNP of the gene in the case group. A correlation coefficient () of -0.14 for HAM-D score with a value of 0.29 signified no direct link of the severity of DD with this SNP. However, a Χ of 12.68 with < 0.001 indicated a significantly higher prevalence of the deletional mutants in DD cases, whereas an -value of 0.39 for HAM-D score with < 0.001 suggested a significantly higher severity of DD having with them. Serum cortisol level showed a significant positive correlation with the deletional variants of ( = 0.198, = 0.04) and the HAM-D score ( = 0.22, = 0.025).
We conclude that deletion significantly contributes to the severity and stress factor in the DD patients in our study population. Early identification of these mutations may provide important molecular and cellular predisposition for the disease and may lay the ground for possible more effective measures of intervention.
脑源性神经营养因子（BDNF）的Val66Met单核苷酸多态性（SNP）以及细胞色素（CYP2D6）的缺失突变，在不同种族和人群中，已被报告以不同方式与抑郁症（DD）的病因及严重程度相关联。
本研究旨在探寻这两种神经营养因子的突变变异与DD严重程度之间的关系，以及它们的血清皮质醇水平作为应激因素标志物的情况。
在104例未经药物治疗的新诊断DD病例和106例对照受试者中，使用汉密尔顿抑郁量表（HAM-D）评分评估抑郁严重程度。通过对其聚合酶链反应（PCR）产物进行限制性消化，分析他们的BDNF Val66Met SNP。通过PCR产物的缺失检测缺失变异。采用酶联免疫吸附测定（ELISA）技术测量血清皮质醇水平。
卡方检验（Χ² = 1.42，P = 0.49）显示病例组中BDNF基因的Való6Met SNP患病率没有更高。HAM-D评分的相关系数（r）为-0.14，P值为0.29，表明DD严重程度与该SNP无直接关联。然而，Χ²为12.68，P < 0.001，表明DD病例中CYP2D6缺失突变的患病率显著更高，而HAM-D评分的P值为0.39，P < 0.001，表明伴有这些突变的DD严重程度显著更高。血清皮质醇水平与CYP2D6的缺失变异（r = 0.198，P = 0.04）和HAM-D评分（r = 0.22，P = 0.025）呈显著正相关。
我们得出结论，在我们的研究人群中，CYP2D6缺失显著导致DD患者的严重程度和应激因素。这些突变的早期识别可能为该疾病提供重要的分子和细胞易感性，并可能为可能更有效的干预措施奠定基础。
