y染色体嵌合缺失, 全基因组关联分析, 转录效应, 小胶质细胞, 心血管疾病, 脑血管疾病, 卒中, mosaic loss of chromosome y, mloy, genome-wide association study, gwas, transcriptional effect, microglia, cardiovascular disease, cerebrovascular disease, stroke, Neurology. Diseases of the nervous system, RC346-429

研究提示，外周血白细胞发生Y染色体嵌合缺失（mosaic loss of chromosome Y，mLOY）增加全因死亡和心脑血管等年龄相关疾病的风险。mLOY是男性特有的遗传变异因素，高龄、吸烟、空气污染等可能是mLOY的危险因素。近年来的全基因组关联分析（genome wide association studies，GWAS）研究发现了不少与mLOY相关的基因位点。基础研究和基于人类基因数据库的分析提示mLOY对心脑血管疾病的发生和复发、预后有不良影响，其可能机制有“免疫监控”假说和“共同土壤”假说。目前针对mLOY的检测方法主要是于单核苷酸多态性基因微阵列测序数据或全基因组测序数据，其中前者的应用更为广泛。 Abstract: Recent studies have shown that mosaic loss of chromosome Y (mLOY) occurring in peripheral blood leukocytes can increase the risk of all-cause mortality and age-related diseases such as cardio- and cerebrovascular diseases. mLOY is a male-specific genetic variation, and factors such as advanced age, smoking, and air pollution may be risk factors for mLOY. Genome-wide association studies (GWAS) in recent years have identified numerous genetic loci associated with mLOY. Basic research and analysis based on human gene databases suggest that mLOY has an adverse effect on the occurrence, recurrence, and prognosis of cardio- and cerebrovascular diseases, and the possible mechanisms are the "immune surveillance" and "common soil" hypotheses. Currently, the main method for detecting mLOY is single nucleotide polymorphisms genotyping microarray sequencing data or whole-genome sequencing data, and the former is more widely used.