Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France.
Neurobiol Aging. 2013 Oct;34(10):2443.e1-2. doi: 10.1016/j.neurobiolaging.2013.04.030. Epub 2013 Jun 4.
Homozygous mutations in TREM2 have been recently identified by exome sequencing in families presenting with frontotemporal dementia (FTD)-like phenotype. No study has evaluated the exact frequency of TREM2 mutations in cohorts of FTD patients so far. We sequenced TREM2 in 175 patients with pure FTD, mostly French, to test whether mutations could be implicated in the pathogenesis of the disease. No disease-causing mutation was identified in 175 individuals from the French cohort of FTD patients. We did not identify the polymorphism p.R47H (rs75932628), strongly associated with an increased risk of developing Alzheimer's disease. We conclude that TREM2 mutations are extremely rare in patients with pure FTD, although further investigation in larger populations is needed.
TREM2 纯合突变最近在通过外显子组测序对具有额颞叶痴呆（FTD）样表型的家族进行研究时被发现。迄今为止，尚无研究评估 TREM2 突变在 FTD 患者队列中的确切频率。我们对 175 名主要来自法国的纯 FTD 患者进行了 TREM2 测序，以检验突变是否可能与疾病的发病机制有关。在来自法国 FTD 患者队列的 175 个人中，没有发现致病突变。我们没有发现与阿尔茨海默病风险增加强烈相关的多态性 p.R47H（rs75932628）。我们的结论是，TREM2 突变在纯 FTD 患者中极为罕见，尽管需要在更大的人群中进行进一步研究。
