title: 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.
abstract: OBJECTIVE
  To identify the association of aquaporin-4 (AQP4) promoter polymorphism with the presence of anti-aquaporin-4 antibody (AQP4-Ab) in Southern Han Chinese patients with idiopathic demyelinating disorders of central nervous system.
  
  
  METHODS
  Eighteen neuromyelitis optica (NMO), thirty-eight conventional MS (CMS), thirteen recurrent myelitis (RM), six recurrent optic neuritis (RON) patients and thirty-nine matched controls were enrolled. Polymorphisms of AQP4 promoters 0 and 1 were determined by sequencing-based typing.
  
  
  RESULTS
  Fourteen polymorphism loci were observed in AQP4-promoter 0, while the six ones were observed in AQP4-promoter 1. Among them, the frequency of polymorphism at position -1003bp (A-G) of AQP4-promoter 0 in AQP4-Ab-positive patients was significantly higher than that in AQP4-Ab-negative patients and controls (former: 13/18 vs 20/45, P=0.046; latter: 13/18 vs 10/39, P=.001). The frequency of polymorphism at position between -401bp and -400bp (C inserted) of AQP4-promoter 1 in AQP4-Ab-positive and -negative patients was significantly higher than that in controls (former: 5/16 vs 0/28, P=0.008; latter: 8/38 vs 0/28, P=0.027).
  
  
  CONCLUSIONS
  Polymorphism at position -1003bp (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.
authors.affiliation: Department of Neurology, The Fifth Affiliated Hospital of Sun Yat-sen University, No. 52 East Meihua Road, Zhuhai, Guangdong Province, 519000, People's Republic of China.
authors.forename: Weihua
authors.initials: W
authors.lastname: Mai
authors.forename: Xueqiang
authors.initials: X
authors.lastname: Hu
authors.forename: Zhengqi
authors.initials: Z
authors.lastname: Lu
authors.forename: Wei
authors.initials: W
authors.lastname: Qiu
authors.forename: Fuhua
authors.initials: F
authors.lastname: Peng
authors.forename: Yuge
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000328:Adult; D051401:Aquaporin 4 / Q000235:genetics* / Q000276:immunology*; D044466:Asian People / Q000235:genetics; D001323:Autoantibodies / Q000096:biosynthesis*; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009471:Neuromyelitis Optica / Q000208:ethnology / Q000235:genetics* / Q000276:immunology*; D010865:Pilot Projects; D011110:Polymorphism, Genetic / Q000235:genetics / Q000276:immunology; D011401:Promoter Regions, Genetic / Q000276:immunology*; D055815:Young Adult
chemical_list: C496030:AQP4 protein, human; D051401:Aquaporin 4; D001323:Autoantibodies