PDF(Pubmed)
Abstract：
The causes of obsessive-compulsive disorder (OCD) remain unknown. Gene-searching efforts are well underway, but the identification of environmental risk factors is at least as important and should be a priority because some of them may be amenable to prevention or early intervention strategies. Genetically informative studies, particularly those employing the discordant monozygotic (MZ) twin design, are ideally suited to study environmental risk factors. This protocol paper describes the study rationale, aims, and methods of OCDTWIN, an open cohort of MZ twin pairs who are discordant for the diagnosis of OCD.
OCDTWIN has two broad aims. In Aim 1, we are recruiting MZ twin pairs from across Sweden, conducting thorough clinical assessments, and building a biobank of biological specimens, including blood, saliva, urine, stool, hair, nails, and multimodal brain imaging. A wealth of early life exposures (e.g., perinatal variables, health-related information, psychosocial stressors) are available through linkage with the nationwide registers and the Swedish Twin Registry. Blood spots stored in the Swedish phenylketonuria (PKU) biobank will be available to extract DNA, proteins, and metabolites, providing an invaluable source of biomaterial taken at birth. In Aim 2, we will perform within-pair comparisons of discordant MZ twins, which will allow us to isolate unique environmental risk factors that are in the causal pathway to OCD, while strictly controlling for genetic and early shared environmental influences. To date (May 2023), 43 pairs of twins (21 discordant for OCD) have been recruited.
OCDTWIN hopes to generate unique insights into environmental risk factors that are in the causal pathway to OCD, some of which have the potential of being actionable targets.
OCDTWIN has two broad aims. In Aim 1, we are recruiting MZ twin pairs from across Sweden, conducting thorough clinical assessments, and building a biobank of biological specimens, including blood, saliva, urine, stool, hair, nails, and multimodal brain imaging. A wealth of early life exposures (e.g., perinatal variables, health-related information, psychosocial stressors) are available through linkage with the nationwide registers and the Swedish Twin Registry. Blood spots stored in the Swedish phenylketonuria (PKU) biobank will be available to extract DNA, proteins, and metabolites, providing an invaluable source of biomaterial taken at birth. In Aim 2, we will perform within-pair comparisons of discordant MZ twins, which will allow us to isolate unique environmental risk factors that are in the causal pathway to OCD, while strictly controlling for genetic and early shared environmental influences. To date (May 2023), 43 pairs of twins (21 discordant for OCD) have been recruited.
OCDTWIN hopes to generate unique insights into environmental risk factors that are in the causal pathway to OCD, some of which have the potential of being actionable targets.
摘要：
背景：强迫症（OCD）的病因尚不清楚。基因搜索工作正在顺利进行，但是环境风险因素的识别至少同样重要，应该是一个优先事项，因为其中一些可能适合预防或早期干预策略。基因信息研究，特别是那些采用不一致单卵(MZ)双胞胎设计的人，非常适合研究环境风险因素。本协议文件描述了研究的基本原理，目标,和OCDTWIN的方法，对强迫症诊断不一致的MZ双胞胎对的开放队列。
方法：OCDTWIN有两个广泛的目标。在目标1中，我们从瑞典各地招募MZ双胞胎，进行全面的临床评估，建立一个生物样本库，包括血,唾液,尿液,凳子,头发,指甲,和多模态脑成像。丰富的早期生命暴露(例如，围产期变量，健康相关信息，社会心理压力源）可通过与全国登记册和瑞典双胞胎登记处联系获得。存储在瑞典苯丙酮尿症（PKU）生物库中的血点将可用于提取DNA，蛋白质，和代谢物，提供出生时生物材料的宝贵来源。在目标2中，我们将对不一致的MZ双胞胎进行配对比较，这将使我们能够分离出导致强迫症的因果途径中的独特环境风险因素，同时严格控制遗传和早期共同的环境影响。迄今为止（2023年5月），已招募了43对双胞胎（21对强迫症不一致）。
结论：OCDTWIN希望对强迫症的因果途径中的环境风险因素产生独特的见解，其中一些有可能成为可采取行动的目标。
方法：OCDTWIN有两个广泛的目标。在目标1中，我们从瑞典各地招募MZ双胞胎，进行全面的临床评估，建立一个生物样本库，包括血,唾液,尿液,凳子,头发,指甲,和多模态脑成像。丰富的早期生命暴露(例如，围产期变量，健康相关信息，社会心理压力源）可通过与全国登记册和瑞典双胞胎登记处联系获得。存储在瑞典苯丙酮尿症（PKU）生物库中的血点将可用于提取DNA，蛋白质，和代谢物，提供出生时生物材料的宝贵来源。在目标2中，我们将对不一致的MZ双胞胎进行配对比较，这将使我们能够分离出导致强迫症的因果途径中的独特环境风险因素，同时严格控制遗传和早期共同的环境影响。迄今为止（2023年5月），已招募了43对双胞胎（21对强迫症不一致）。
结论：OCDTWIN希望对强迫症的因果途径中的环境风险因素产生独特的见解，其中一些有可能成为可采取行动的目标。
