Faculty of Medicine, University of Oslo, Oslo, Norway.
Department of Neurosurgery, Oslo University Hospital-Rikshospitalet, Oslo, Norway.
Mol Pain. 2021 Jan-Dec;17:17448069211016139. doi: 10.1177/17448069211016139.
Trigeminal neuralgia (TN) is a severe facial pain disease of unknown cause and unclear genetic background. To examine the existing knowledge about genetics in TN, we performed a systematic study asking about the prevalence of familial trigeminal neuralgia, and which genes that have been identified in human TN studies and in animal models of trigeminal pain. MedLine, Embase, Cochrane Library and Web of Science were searched from inception to January 2021. 71 studies were included in the systematic review. Currently, few studies provide information about the prevalence of familial TN; the available evidence indicates that about 1-2% of TN cases have the familial form. The available human studies propose the following genes to be possible contributors to development of TN: CACNA1A, CACNA1H, CACNA1F, KCNK1, TRAK1, SCN9A, SCN8A, SCN3A, SCN10A, SCN5A, NTRK1, GABRG1, MPZ gene, MAOA gene and SLC6A4. Their role in familial TN still needs to be addressed. The experimental animal studies suggest an emerging role of genetics in trigeminal pain, though the animal models may be more relevant for trigeminal neuropathic pain than TN per se. In summary, this systematic review suggests a more important role of genetic factors in TN pathogenesis than previously assumed.
三叉神经痛(TN)是一种病因不明且遗传背景尚不清楚的严重面部疼痛疾病。为了研究 TN 遗传方面的现有知识,我们进行了一项系统研究,询问了家族性三叉神经痛的患病率,以及在人类 TN 研究和三叉神经痛动物模型中已确定的哪些基因。我们从建库开始至 2021 年 1 月在 MedLine、Embase、Cochrane 图书馆和 Web of Science 上进行了检索。纳入了 71 项系统评价研究。目前,很少有研究提供家族性 TN 患病率的信息;现有证据表明,约 1-2%的 TN 病例具有家族形式。现有的人类研究提出了以下基因可能是 TN 发病的原因:CACNA1A、CACNA1H、CACNA1F、KCNK1、TRAK1、SCN9A、SCN8A、SCN3A、SCN10A、SCN5A、NTRK1、GABRG1、MPZ 基因、MAOA 基因和 SLC6A4。它们在家族性 TN 中的作用仍需进一步阐明。实验动物研究表明遗传因素在三叉神经痛中起着重要作用,尽管这些动物模型可能与三叉神经病理性疼痛更相关,而不是 TN 本身。总之,这项系统综述表明遗传因素在 TN 发病机制中的作用比之前假设的更为重要。