OBJECTIVE A rare variant in TREM2 (p.R47H, rs75932628) has been consistently reported to increase the risk for Alzheimer disease (AD), while mixed evidence has been reported for association of the variant with other neurodegenerative diseases. Here, we investigated the frequency of the R47H variant in a diverse and well-characterized multicenter neurodegenerative disease cohort. METHODS We examined the frequency of the R47H variant in a diverse neurodegenerative disease cohort, including a total of 3058 patients clinically diagnosed with AD, frontotemporal dementia spectrum syndromes, mild cognitive impairment, progressive supranuclear palsy syndrome, corticobasal syndrome, or amyotrophic lateral sclerosis and 5089 control subjects. RESULTS We observed a significant association between the R47H variant and AD, while no association was observed with any other neurodegenerative disease included in this study. CONCLUSIONS Our results support the consensus that the R47H variant is significantly associated with AD. However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases.

中文翻译：

---

TREM2 R47H变体在各种神经退行性疾病中的发生频率。

目的一直以来，TREM2的一种罕见变体（p.R47H，rs75932628）一直被报道会增加罹患阿尔茨海默氏病（AD）的风险，而有关该变体与其他神经退行性疾病的相关报道也多种多样。在这里，我们调查了一个特征多样的多中心神经退行性疾病队列中R47H变体的频率。方法我们检查了各种神经退行性疾病队列中R47H变异的频率，包括临床诊断为AD，额颞痴呆谱综合征，轻度认知障碍，进行性核上性麻痹综合征，皮质基底膜综合症或肌萎缩性侧索硬化症的5058名患者和5089名患者控制对象。结果我们观察到R47H变体与AD之间存在显着关联，而本研究中未发现与任何其他神经退行性疾病相关。结论我们的结果支持以下共识：R47H变体与AD显着相关。但是，我们没有发现R47H变异与其他神经退行性疾病相关的证据。