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纤维肌痛的遗传结构跨越250万个人的个人

Isabel Kerrebijn^1,2, Gyda Bjornsdottir³, Keon Arbabi^1,2,4

¹Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada.

medRxiv : the preprint server for health sciences

|September 26, 2025

概括

这项研究确定了26种新的纤维肌痛遗传风险因素,一种慢性疼痛状况. 这些发现强烈表明纤维肌痛是一种中枢神经系统疾病,与其他慢性疼痛和精神疾病有着共同的基因.

科学领域:

遗传学是一个遗传学.
神经科学是一个神经科学.
类风湿病学类风湿病学

背景情况:

纤维肌痛是一种普遍的,残疾的慢性疼痛疾病,原因不明.
了解它的遗传基础对于开发有效的治疗方法至关重要.

研究的目的:

进行一个大规模的,多祖先的全基因组关联研究 (GWAS),以确定纤维肌痛的遗传风险位置.
研究纤维肌痛与其他疾病的遗传结构和相关性.

主要方法:

在11个队伍中对来自2,563,755名个体的GWAS数据进行了元分析 (54,629例,2,509,126例对照).
在特定的组织和细胞类型中对基因优先级和遗传性丰富分析.
基因相关性分析与各种慢性疼痛,精神病和体质疾病.

主要成果:

确定了26个新的纤维肌痛风险位点,在HTT基因中具有最强的关联.
在神经功能中涉及的优先基因,包括GPR52,CAMKV,DCC,DRD2/NCAM1,MDGA2和CELF4.
纤维肌痛遗传性在脑组织和神经细胞类型中得到了丰富.
观察到与腰部疼痛,PTSD和IBS有显著的积极遗传相关性.
尽管存在流行差异,但男性和女性之间的遗传结构是相似的.

结论:

提供了第一个强有力的遗传证据,将纤维肌痛归类为中枢神经系统疾病.
建立了纤维肌痛病理生理学和并发症的生物框架.
突出了纤维肌痛和其他慢性疼痛和精神疾病之间的共同遗传基础.

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