小胶质细胞作为中枢神经系统固有的免疫细胞，在阿尔茨海默病（AD）中发挥免疫应答功能，一方面吞噬清除异常蛋白和凋亡神经元，避免损伤进一步扩大；另一方面诱导慢性神经炎症，进一步加剧病理损伤。既往研究认为小胶质细胞激活后的功能改变是由AD病理引起的，然而近年来基因组学的发现打破了这一认知。大规模全基因组关联分析（GWAS）和全基因组/外显子测序研究已经明确了70余个AD风险位点。在相关风险基因座中，大部分基因变体参与编码小胶质细胞功能相关分子或影响小胶质细胞功能基因的转录活性。功能及通路分析发现上述风险位点主要富集于调控小胶质细胞吞噬功能、脂质代谢和免疫应答等功能的信号通路，提示小胶质细胞不仅是AD病理的“应答者”，同时也是AD病理发生的“参与者”。对上述易感基因的深入研究有助于进一步拓展小胶质细胞在AD的调控机制和功能谱。现基于遗传学研究对目前发现的小胶质细胞相关AD易感基因及其调节机制进行综述。

Microglia， as intrinsic immune cells of the central nervous system， play an immune response function in Alzheimer’s disease （AD），which prevents further damages by eliminating abnormal proteins and apoptotic neurons while also leads pathological progression via inducing chronic neuroinflammation.The previous studies have suggested that the functional changes of microglia activation are initiated by AD pathologies. However，the recent genomic studies have challenged this understanding. Large-scale genome-wide association analysis （GWAS） and whole genome/exome sequencing studies have identified more than 70 risk loci of AD. Among these risk loci， most gene variants are involved in encoding microglia function-related molecules or affecting the transcriptional activity of genes associated with the microglial biofunctions.The functional and pathway analysis results have revealed that these risk loci are mainly enriched in signaling pathways regulating microglia phagocytosis， lipid metabolism， and immune response， suggesting that microglia not only act as a “responder” to AD pathologies， but also a “participant” in the development of AD pathogenesis.In-depth studies of these susceptibility genes may further expand our understanding of the regulatory mechanisms and functional spectrum of microglia in AD. This review is based on genetic studies and summarizes the current knowledge of microglial-related susceptibility genes related to AD and their regulatory mechanisms.