评估自我报告的精神分裂症临床诊断的有效性
Grace E Woolway1, Sophie E Legge2, Amy J Lynham1
1Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Schizophrenia (Heidelberg, Germany)
|October 31, 2024
概括
自我报告的精神分裂症诊断对于基因组研究是有效的,最大化样本大小. 建议在研究中进行验证,但自我报告提供了一种可靠的方法来识别大型生物库中的参与者.
科学领域:
- 精神病学基因组学 精神病学基因学
- 这是生物银行.
- 临床诊断验证 临床诊断验证
背景情况:
- 生物库对于识别大型基因组研究的参与者变得越来越重要.
- 准确的表型定型对于基因组研究至关重要,但传统的诊断方法可能是资源密集的.
- 自我报告诊断的有效性,特别是对于诸如精神分裂症之类的复杂疾病,需要在生物库环境中仔细评估.
研究的目的:
- 评估自我报告的精神分裂症临床诊断的积极预测值 (PPV).
- 将自我报告的诊断与研究面试和医疗记录诊断进行比较.
- 通过比较多基因风险得分 (PRS) 和表型,评估自我报告诊断在基因组研究中的有用性.
主要方法:
- 分析了来自1744名临床确定的参与者和1453名患有精神分裂症或精神分裂情绪障碍抑郁型 (SA-D) 的英国生物库参与者的数据.
- 自我报告的诊断的计算PPV与研究采访和医疗记录诊断相比.
- 对比多基因风险评分 (PRS) 和表型数据 (人口统计,教育,就业) 跨诊断组和对抗精神病基因组学联盟 (PGC) 队列.
主要成果:
- 与研究诊断相比,自我报告的精神分裂症的PPV为0.70 (精神分裂症或SA-D的0.81).
- 与英国生物库医疗记录相比,自我报告的精神分裂症的PPV为0.74.
- 精神分裂症PRS在诊断确定方法 (自我报告,研究诊断,医疗记录) 中没有显著差异,解释的差异 (r2) 在PGC队列分布中.
结论:
- 自我报告的精神分裂症诊断在基因组研究中是合理的,以提高样本规模并减少面试负担.
- 建议在样本内验证诊断,以确保数据质量.
- 自报诊断提供了一种有效和有效的方法,用于在大型生物库中识别参与者进行遗传研究.
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