Mount Sinai School of Medicine, Department of Psychiatry and Neuroscience, Friedman Brain Institute, New York, NY, USA.
Mount Sinai School of Medicine, Department of Psychiatry and Neuroscience, Friedman Brain Institute, New York, NY, USA; The Mental Health Patient Care Center and the Mental Illness Research Education and Clinical Center, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.
J Affect Disord. 2013 Nov;151(2):695-701. doi: 10.1016/j.jad.2013.08.003. Epub 2013 Aug 14.
The clinical phenotype of bipolar disorder (BPD) is heterogeneous and the genetic architecture of the disorder is complex and not well understood. Given these complications, it is possible that the identification of intermediate phenotypes ("endophenotypes") will be useful in elucidating the complex genetic mechanisms that result in the disorder. The examination of unaffected relatives is critical in determining whether a particular trait is genetically-relevant to BPD. However, few dimensional traits related to BPD have been assessed in unaffected relatives of patients.
We assessed affective temperament and schizotypy in 55 discordant sibling pairs and 113 healthy controls (HCs) using the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego, Auto-questionnaire version (TEMPS-A) to assess affective temperament and the Schizotypal Personality Questionnaire (SPQ) to assess schizotypy.
BPD patients scored significantly higher than HCs on all subscales of the SPQ and on all but one subscale (hyperthymic) of the TEMPS-A (all p<0.01). Siblings demonstrated scores that were significantly intermediate to patients and HCs on the anxious subscale of the TEMPS-A and on the interpersonal deficits and disorganized subscales of the SPQ.
We did not investigate the BPD spectrum as most patients were diagnosed with BPD I (n=47). Most of the patients had experienced psychosis (n=42) and so we were unable to examine whether psychosis status impacted upon affective temperament or schizotypy in patients or their siblings.
These data suggest that schizotypy and affective temperament represent dimensional traits that are likely to underlie the genetic risk for BPD.
双相情感障碍（BPD）的临床表型具有异质性，其遗传结构复杂且尚未得到充分理解。鉴于这些复杂性，确定中间表型（“内表型”）可能有助于阐明导致该疾病的复杂遗传机制。检查未受影响的亲属对于确定特定特征是否与 BPD 具有遗传相关性至关重要。然而，目前评估的与 BPD 相关的维度特征在患者的未受影响亲属中较少。
我们使用 Memphis、Pisa、Paris 和 San Diego 自动问卷版（TEMPS-A）评估情感气质，使用精神分裂症人格问卷（SPQ）评估精神分裂症特质，评估了 55 对双相情感障碍的不一致同胞对和 113 名健康对照者（HCs）的情感气质和精神分裂症特质。
与 HCs 相比，BPD 患者在 SPQ 的所有分量表和 TEMPS-A 的除一个亚量表（欣快）外的所有亚量表上的得分均显著较高（均<0.01）。与 HCs 相比，同胞在 TEMPS-A 的焦虑亚量表和 SPQ 的人际缺陷和紊乱亚量表上的得分显著处于中间水平。
我们没有研究 BPD 谱，因为大多数患者被诊断为 BPD I（n=47）。大多数患者经历过精神病（n=42），因此我们无法检查精神病状态是否会影响患者或其同胞的情感气质或精神分裂症特质。
这些数据表明，精神分裂症特质和情感气质代表可能是 BPD 遗传风险的维度特征。
