标题：Genetic Variants Associated With Neurodegenerative Diseases Regulate Gene Expression in Immune Cell CD14+Monocytes
作者：Sun, Jing-yi; Hou, Ya-jun; Zhang, Yan; Wang, Longcai; Liu, Lidong; Sun, Bao-liang; Yuan, Hui
作者机构：[Sun, Jing-yi] Yonsei Univ, Wonju Severance Christian Hosp, Wonju Coll Med, Wonju, South Korea.; [Hou, Ya-jun; Sun, Bao-liang; Yuan, Hui] Univ Shand 更多
通讯作者：Sun, BL;Yuan, H
通讯作者地址：[Sun, BL; Yuan, H]Univ Shandong, Taishan Med Univ, Affiliated Hosp, Key Lab Cerebral Microcirculat,Dept Neurol, Tai An, Shandong, Peoples R China.
来源：FRONTIERS IN GENETICS
关键词：genome-wide association study; neurodegenerative disease; eQTLs;; CD14+monocytes; Alzheimer's disease
摘要：Until now, large-scale genome-wide association studies have identified 94 genes associated with Alzheimer's disease, Parkinson's disease, and multiple sclerosis. Expression quantitative trait locus (eQTL) analysis showed that six genetic variants around six of these 94 genes could drive both disease susceptibility and altered expression of six nearby genes including CD33 (rs3865444), PILRB (rs1476679), NUP160 (rs10838725), LRRK2 (rs76904798), RGS1 (rs1323292), and METTL21B (rs701006). However, two of these six genetic variants rs1476679 and rs76904798 variants could regulate the expression of PILRB and LRRK2 only in the human monocyte-derived microglia-like (MDMi) cells, but not in human peripheral blood monocytes. Here, we aim to verify these findings using another two eQTL datasets in human peripheral blood immune cell CD14+ monocytes. The results that showed that rs1476679 and rs76904798 variants or their proxy variants could significantly regulate the expression of PILRB and LRRK2 in immune cell CD14+ monocytes and human peripheral blood. We believe that these findings provide important supplementary information about the regulatory mechanisms by which both variants influence PILRB and LRRK2 gene expression and neurodegenerative disease risk.