作者: Sheng-Lan Zhou , Chen-Chen Tan , Xiao-He Hou , Xi-Peng Cao , Lan Tan
DOI: 10.3233/JAD-181038
关键词: Amyotrophic lateral sclerosis 、 Disease 、 Genetic disorder 、 Frontotemporal dementia 、 Cochrane Library 、 Bioinformatics 、 Meta-analysis 、 TREM2 、 Leukoencephalopathy 、 Medicine
摘要: TREM2 (triggering receptor expressed on myeloid cells 2) gene variants were reported to increase the risk of Alzheimer's disease (AD) and even other neurodegenerative diseases (frontotemporal dementia (FTD), Parkinson's (PD) amyotrophic lateral sclerosis (ALS)), but so far, no definite conclusion has been drawn. The aim our systematic review meta-analysis was investigate role in diseases. A total 39 papers (including 26 case-control studies 13 case reports) retrieved from PubMed, MEDLINE, EMBASE, Cochrane library this study. fixed effect model used pool results analysis. Three (rs75932628 (R47H), rs2234255 (H157Y), rs143332484 (R62H)) significantly associated with AD risk, similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), not proven. Rs75932628 also increased PD North Americans FTD, Europeans or ALS. In review, 12 biallelic mutations (e.g., rs104894002, rs201258663 (T66M), rs386834144, etc.) have described cause Polycystic Lipomembranous Osteodysplasia Sclerosing Leukoencephalopathy (PLOSL) 14 families. And homozygous FTD without typical bone phenotypes 7 This study demonstrates that multiple association onset AD, play a key rare familial genetic disorder.