BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.
Bo-Wen YinBin LiArshad MehmoodCongcong YuanShuang SongYi-Fang GuoLu ZhangTianzhao MaLi GuoPublished in: CNS neuroscience & therapeutics (2021)
This study evaluated that the minor allele G of rs2248932 in BLK is associated with reduced susceptibility to NMOSD and protected the risk of AQP4-positive. BLK mRNA expression in NMOSD was lower as compared to healthy controls while significantly increased in acute-untreated patients.