Department of Clinical and Theoretical Mental Health, Kutvolgyi Clinical Center, Semmelweis University, Budapest, Hungary.
J Affect Disord. 2013 Aug 15;150(1):104-9. doi: 10.1016/j.jad.2013.02.033. Epub 2013 Apr 18.
Major depressive disorder (MDD) and bipolar disorder (BPD) have significant genetic predisposition. The P2RX7 gene (coding for P2X7 purinergic receptor) has been suggested as a susceptibility gene for both MDD and BPD. In the current study the genetic effects of rs2230912 (Gln460Arg) and rs1653625 (located in the 3' untranslated region of the P2RX7 gene) were explored in mood disorders.
Genotype frequencies were established in 315 patients (195 with MDD and 120 with BPD diagnosis) and in 373 controls. Depression severity was assessed by the clinician-rated Montgomery-Åsberg Depression Rating Scale (MADRS) and by the self-report Hospital Anxiety and Depression Scale (HADS).
In the case-control analysis we did not find any significant differences between genotype frequencies of either BPD or MDD cases and controls. However, BPD patients carrying at least one rs2230912G-allele scored higher on both MADRS and HADS-depression scale (nominal p-value was 0.028 and 0.003, respectively). The rs1653625AA genotype was also associated with higher depression scores in the BPD group (nominal p-value of MADRS: 0.019, HADS-depression: 0.017). After correction for multiple testing, the association between rs2230912 and HADS-depression score remained significant in the BPD group (p<0.006); this genetic effect explained 9% of the variance (partial η(2)=0.09). In the MDD group we did not find any significant genetic effect.
The relatively small number of BPD patients warrants for a replication study.
Our genetic association study supports the association between P2RX7 gene and severity of depressive symptoms in BPD patients.
重度抑郁症（MDD）和双相情感障碍（BPD）有明显的遗传倾向。P2RX7 基因（编码 P2X7 嘌呤能受体）被认为是 MDD 和 BPD 的易感基因。在目前的研究中，探讨了 P2RX7 基因（rs2230912[Gln460Arg]和位于 P2RX7 基因 3'非翻译区的 rs1653625）的遗传效应在心境障碍中的作用。
在 315 名患者（195 名 MDD 患者和 120 名 BPD 患者）和 373 名对照中建立基因型频率。采用临床医生评定的蒙哥马利-Åsberg 抑郁评定量表（MADRS）和自我报告的医院焦虑和抑郁量表（HADS）评估抑郁严重程度。
在病例对照分析中，我们没有发现 BPD 或 MDD 病例与对照组之间的基因型频率有任何显著差异。然而，携带至少一个 rs2230912G-等位基因的 BPD 患者在 MADRS 和 HADS 抑郁量表上的评分更高（名义 p 值分别为 0.028 和 0.003）。rs1653625AA 基因型也与 BPD 组的抑郁评分较高相关（MADRS 的名义 p 值：0.019，HADS 抑郁：0.017）。在多重检验校正后，rs2230912 与 BPD 组 HADS 抑郁评分之间的关联仍然显著（p<0.006）；这种遗传效应解释了 9%的方差（偏 η(2)=0.09）。在 MDD 组中，我们没有发现任何显著的遗传效应。
BPD 患者数量相对较少，需要进行复制研究。
我们的遗传关联研究支持 P2RX7 基因与 BPD 患者抑郁症状严重程度之间的关联。
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