Preliminary study on the association of AQP4 promoter polymorphism with anti-aquaporin-4 antibody positivity in Southern Han Chinese patients with idiopathic demyelinating disorders of central nervous system

Polymorphism at position − 1003 bp (A-G) of AQP4-promoter 0 is associated with the presence of anti-AQP4 antibody. Genetic variation in AQP4 may account for the susceptibility to AQP4-Ab-positive NMO and NMO spectrum disorders in Southern Han Chinese population.