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用深度大脑刺激治疗的严重和耐治疗的强迫症疾病的基因组学:初步调查

Long Long Chen¹, Matilda Naesström², Matthew Halvorsen^1,3

¹Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

|April 23, 2024

概括

对五名患有严重强迫症 (OCD) 患者进行深度大脑刺激 (DBS) 的基因组分析,发现了罕见的遗传变异. KCNB1的一个变异可能预测治疗反应,这表明强迫症的遗传基础.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
精神病学是一个精神病学.

背景情况:

严重且耐治疗的强迫症 (trOCD) 是高度残疾的.
深度大脑刺激 (DBS) 是最严重的强迫症病例的一个选择.
遗传因素可能会对严重的强迫症产生重大影响.

研究的目的:

在接受DBS的患者中调查trOCD的遗传基础.
为了识别与trOCD相关的基因破坏性罕见变异 (GDRVs).
探索遗传发现作为DBS治疗反应的预测因素的潜力.

主要方法:

五名接受DBS的trOCD患者的整体外基因组测序和微阵列基因定型.
分析的重点是识别基因破坏性罕见变异 (GDRV).
特别关注KCNB1基因中的变异和染色体异常.

主要成果:

五分之三的患者携带至少一个GDRV.
已识别的变体包括KCNB1误解变体 (Met340Ile),15q11.2删除和15q26.1重复.
在一个对DBS有反应的患者中发现了KCNB1 Met340Ile变异.

结论:

已经建立了一个对接受DBS的trOCD患者的基因组表征的协议.
对trOCD患者的基因组查是OCD基因发现的可行策略.
遗传因素,如KCNB1变体,可能会影响强迫症的DBS治疗结果.

关键词:

这是OCD的OCD.深度大脑刺激刺激大脑遗传学遗传学遗传学遗传学是一个强迫症是一种强迫症.耐处理性耐处理性

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