Whole-exome sequencing reveals genetic factors in NMOSD


  • The human leukocyte antigen (HLA)-DQA1 and HLA-DQB1 alleles were the most significant HLA genes associated with neuromyelitis optica spectrum disorder (NMOSD) in Chinese patients. Other genetic factors that were identified for disease susceptibility included NOP16 and IgG1-G390R.

Why this matters

  • Though the pathogenesis of NMOSD has not been elucidated, limited evidence has found that genetic factors play a significant role.

  • It has been reported that the prevalence of NMOSD in East and Southern Asian individuals is higher than in Caucasians. The HLA genes are the most recognised genetic factor of NMOSD and the difference in prevalence may possibly be attributed to different HLA alleles.