一项大规模全球遗传学研究正在重塑我们对精神疾病的理解——以及为何诊断结果往往层层叠加。通过分析超过600万人的遗传数据，研究人员揭示了14种精神疾病间深层的遗传联系，表明许多疾病具有共同的生物学根源。这些疾病并非孤立存在，而是归入五个相互重叠的家族，这有助于解释为何抑郁症、焦虑症、创伤后应激障碍（PTSD）、双相情感障碍、精神分裂症和物质使用障碍经常并发。
这项工作由精神基因组学联盟（Psychiatric Genomics Consortium）的跨疾病工作组领导。该小组由弗吉尼亚联邦大学医学院精神病学系教授、医学博士肯尼斯·肯德勒和哈佛医学院精神病学系教授、医学博士乔丹·斯莫勒共同担任主席。
遗传学与定义精神疾病的挑战
对于大多数被诊断为精神障碍的人来说，该诊断很少是他们唯一会收到的诊断。许多人随后会发展出第二种甚至第三种疾病，这使得精神疾病的分类和治疗变得复杂。生活经历和环境显然会影响心理健康风险，但遗传因素在决定疾病为何经常重叠方面也起着重要作用。
为了更好地理解这些遗传影响，研究人员分析了超过600万人的数据。他们的发现表明，所研究的14种精神障碍在遗传上并非孤立的。相反，它们归属于五个大类，这些类别共享大量的遗传相似性。这种对遗传重叠更清晰的认识最终可能帮助临床医生为具有复杂诊断的患者更有效地定制治疗方案。
遗传学能揭示关于精神障碍的什么信息
“精神病学是唯一没有确定性实验室检测的医学专科。我们无法通过血液检测来判断某人是否患有抑郁症——我们必须依赖症状和体征。几乎每种精神障碍都是如此，”肯德勒说，他是一位因在精神遗传学方面的开创性研究而闻名世界的研究人员。“遗传学是一种不断发展的工具，使我们能够理解疾病之间的关系。这项研究的发现反映了对迄今为止精神基因组数据最全面的分析，并为为什么患有一种精神障碍的个体经常患有第二种或第三种疾病提供了新的见解。”
该研究检查了超过100万名被诊断为儿童期或成年期发病的精神障碍患者的遗传物质，以及500万名未被诊断患有任何疾病的个体的数据。通过识别在特定疾病患者中出现频率更高的遗传标记，科学家可以更好地查明导致精神疾病的生物学因素。
共享变异与遗传热点
研究团队使用几种互补的分析方法，探索了所有14种精神障碍的遗传结构。这种方法发现了428种与一种以上疾病相关的遗传变异。分析还确定了染色体上的101个区域作为“热点”，这些共享的遗传变异在这些区域特别集中。
统计建模使研究人员能够根据遗传相似性对疾病进行分组。确定的五个组别是：
- * *Draft:* 强迫性障碍：强迫症、神经性厌食症，以及在较小程度上的图雷特综合征和焦虑症。
- * **Segment 2:** `
- Internalizing disorders: major depression, anxiety disorders and post-traumatic stress disorder.
- ` * *Terms:* Internalizing disorders (内化障碍), major depression (重度抑郁症), post-traumatic stress disorder (创伤后应激障碍). * *Draft:*
- 内化障碍：重度抑郁症、焦虑症和创伤后应激障碍。
- * **Segment 3:** `
- Neurodevelopmental disorders: autism spectrum disorder, attention-deficit/hyperactivity disorder and, to a lesser extent, Tourette disorder.
- ` * *Terms:* Neurodevelopmental disorders (神经发育障碍), autism spectrum disorder (孤独症谱系障碍/自闭症谱系障碍 - "孤独症谱系障碍" is standard in mainland China medical terminology), attention-deficit/hyperactivity disorder (注意缺陷多动障碍). * *Draft:*
- 神经发育障碍：孤独症谱系障碍、注意缺陷多动障碍，以及在较小程度上的图雷特综合征。
- * **Segment 4:** `
- Schizophrenia and bipolar disorder
- ` * *Terms:* Schizophrenia (精神分裂症), bipolar disorder (双相情感障碍). * *Draft:*
- 精神分裂症和双相情感障碍
- * **Segment 5:** `
- Substance use disorders: opioid use disorder, cannabis use disorder, alcohol use disorder and nicotine dependence.
- 物质使用障碍：阿片类药物使用障碍、大麻使用障碍、酒精使用障碍和尼古丁依赖。
- * **Segment 6:** `
Which Disorders Share the Most Genetic Risk
` * *Draft:*哪些疾病共有的遗传风险最多
* **Segment 7:** `Some conditions showed especially strong genetic connections. Major depression, anxiety and post-traumatic stress disorder shared about 90% of their genetic risk. Schizophrenia and bipolar disorder also showed substantial overlap, sharing roughly 66% of their genetic markers.
` * *Analysis:* "Genetic connections" -> 遗传关联/联系. "Genetic risk" -> 遗传风险. "Substantial overlap" -> 显著重叠/大量重叠. "Genetic markers" -> 遗传标记. * *Draft:*某些疾病显示出特别强的遗传关联。重度抑郁症、焦虑症和创伤后应激障碍共有约90%的遗传风险。精神分裂症和双相情感障碍也显示出显著的重叠，共有约66%的遗传标记。
* **Segment 8:** `The researchers also found that disorders with shared genetic risk often followed similar biological patterns. These similarities included when shared genes were active during human development and which types of brain cells were affected. For example, genes active in oligodendrocytes, an important component of the central nervous system, were more closely linked to internalizing disorders. In contrast, genes expressed in excitatory neurons, which stimulate other neurons, were more strongly associated with schizophrenia and bipolar disorder.
` * *Terms:* Biological patterns (生物学模式). Active (活跃/表达). Oligodendrocytes (少突胶质细胞). Central nervous system (中枢神经系统). Excitatory neurons (兴奋性神经元). Stimulate (刺激). * *Draft:*研究人员还发现，具有共同遗传风险的疾病往往遵循相似的生物学模式。这些相似之处包括共有基因在人类发育过程中的活跃时间，以及受影响的脑细胞类型。例如，在中枢神经系统重要组成部分的少突胶质细胞中活跃的基因，与内化障碍的联系更为紧密。相比之下，在兴奋性神经元（刺激其他神经元的细胞）中表达的基因，与精神分裂症和双相情感障碍的关联性更强。
* **Segment 9:** `` (Keep as is, it's HTML code). * **Segment 10:** `Implications for Diagnosis and Treatment
` * *Draft:*对诊断和治疗的启示
* **Segment 11:** `According to the researchers, these results provide a strong scientific foundation for how psychiatric disorders are defined. The findings may also guide future efforts to develop new treatments or adapt existing therapies for conditions that commonly occur together.
` * *Terms:* Psychiatric disorders (精神疾病/精神障碍). Scientific foundation (科学基础). Adapt existing therapies (调整现有疗法/改良现有疗法). Conditions that commonly occur together (常共病的疾病/常同时发生的疾病). * *Draft:*据研究人员介绍，这些结果为精神障碍的定义方式提供了坚实的科学基础。这些发现还可能指导未来的工作，为常同时发生的疾病开发新疗法或调整现有疗法。
* **Segment 12:** `"I feel very proud to be a part of this effort," Kendler said. "This work really shows that we gain more for our field and for those suffering from mental illness when we come together to tackle these scientific challenges."
` * *Draft:*肯德勒（Kendler）说：“能参与这项工作，我感到非常自豪。这项工作真正表明，当我们齐心协力应对这些科学挑战时，我们能为我们的领域以及那些精神疾病患者带来更多裨益。”
3. **Final Review:** * Check for consistency (e.g., "disorder" translated as "障碍" consistently). * Check for accuracy of medical terms (e.g., Oligodendrocytes -> 少突胶质细胞). * Check formatting (HTML tags preserved). * Flow and tone: Professional, scientific, objective. * *Self-Correction on Segment 8:* "genes active in oligodendrocytes" -> "在少突胶质细胞中活跃的基因" or "在少突胶质细胞中表达的基因". The text later says "genes expressed in excitatory neurons". "Active" and "expressed" are often used interchangeably in this context, but "active" implies activity/function. "活跃" is a good translation for active. "Expressed" is "表达". I will stick to "活跃" for active and "表达" for expressed to maintain the distinction in the source text. * *Self-Correction on Segment 11:* "conditions that commonly occur together" -> "常共病的疾病" is a very professional medical term (comorbidity), but "常同时发生的疾病" is a more literal translation. Given the instruction to be a "professional tech translator", "常共病的疾病" or "常合并发生的疾病" sounds better. Let's go with "常合并发生的疾病" or simply "常同时发生的疾病" to be safe and clear. "常共病" is slightly jargon-heavy but accurate. Let's use "常同时发生的疾病" for broader clarity while remaining professional. Actually, "commonly occur together" implies comorbidity. Let's use "常合并发生的疾病". * *Refining Segment 1:* "Tourette disorder" -> "图雷特综合征". This is the standard Chinese medical term. * *Refining Segment 3:* "Autism spectrum disorder" -> "孤独症谱系障碍" (Standard Mainland China term). * *Refining Segment 12:* "Kendler" -> "肯德勒". "Mental illness" -> "精神疾病" or "精神障碍". Since earlier "psychiatric disorders" was "精神障碍", "mental illness" can be "精神疾病" to distinguish, or stick to "精神障碍". "Suffering from mental illness" -> "饱受精神疾病折磨" or "患有精神疾病". "患有精神疾病" is neutral and professional. 4. **Final