家族性癫痫中的情绪障碍：共同病因学的检验。
Mood disorders in familial epilepsy: A test of shared etiology.
机构信息
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
G. H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
出版信息
Epilepsia. 2018 Feb;59(2):431-439. doi: 10.1111/epi.13985. Epub 2018 Jan 10.
OBJECTIVE
Mood disorders are the most common comorbid conditions in epilepsy, but the cause remains unclear. One possible explanation is a shared genetic susceptibility to epilepsy and mood disorders. We tested this hypothesis by evaluating lifetime prevalence of mood disorders in relatives with and without epilepsy in families containing multiple individuals with epilepsy, and comparing the findings with rates from a general population sample.
METHODS
The Composite International Diagnostic Interview was administered to 192 individuals from 60 families, including 110 participants with epilepsy of unknown cause (50 focal epilepsy [FE], 42 generalized epilepsy [GE], 6 FE and GE, 12 unclassifiable) and 82 relatives without epilepsy (RWOE). Odds ratios (ORs) for lifetime prevalence of mood disorders in participants with versus without epilepsy were computed through logistic regression, using generalized estimation equations to account for familial clustering. Standardized prevalence ratios (SPRs) were used to compare prevalence in family members with general population rates.
RESULTS
Compared with RWOE, ORs for mood disorders were significantly increased in participants with FE (OR = 2.4, 95% confidence interval [CI] = 1.1-5.2) but not in those with GE (OR = 1.0, 95% CI = 0.4-2.2). In addition, prevalence of mood disorders was increased in individuals with epilepsy who had ≥1 relative with FE. Compared with general population rates, mood disorders were significantly increased in individuals with FE but not in those with GE. Rates were also increased in RWOE, but not significantly so (SPR = 1.4, P = .14).
SIGNIFICANCE
These findings are consistent with the hypothesis of shared genetic susceptibility to epilepsy and mood disorders, but suggest (1) the effect may be restricted to FE, and (2) the shared genetic effect on risk of mood disorders and epilepsy may be restricted to individuals with epilepsy, that is, to those in whom the genetic risk for epilepsy is "penetrant."
目的
心境障碍是癫痫最常见的共病，但病因仍不清楚。一个可能的解释是癫痫和心境障碍存在共同的遗传易感性。我们通过评估有和无癫痫的家族成员中终生心境障碍的患病率来检验这一假说，并将结果与一般人群样本的发病率进行比较。
方法
对 60 个家庭中的 192 人进行了复合国际诊断访谈，包括 110 名原因不明的癫痫患者（50 名局灶性癫痫[FE]，42 名全面性癫痫[GE]，6 名 FE 和 GE，12 名无法分类）和 82 名无癫痫亲属（RWEO）。通过逻辑回归计算有癫痫和无癫痫患者的终生心境障碍患病率的比值比（OR），使用广义估计方程来考虑家族聚集性。使用标准化患病率比（SPR）比较家族成员与一般人群的患病率。
结果
与 RWEO 相比，FE 患者的心境障碍 OR 明显升高（OR=2.4，95%置信区间[CI] = 1.1-5.2），而 GE 患者则无显著升高（OR=1.0，95% CI = 0.4-2.2）。此外，有≥1 名 FE 亲属的癫痫患者心境障碍的患病率也升高。与一般人群的发病率相比，FE 患者的心境障碍明显增加，但 GE 患者则没有。RWEO 患者的发病率也有所增加，但无统计学意义（SPR=1.4，P=0.14）。
意义
这些发现与癫痫和心境障碍存在共同遗传易感性的假说一致，但提示（1）这种影响可能仅限于 FE，（2）对心境障碍和癫痫的共同遗传影响可能仅限于癫痫患者，即那些癫痫遗传风险“表现型”的患者。
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