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.

Weihua Mai, Xueqiang Hu, Zhengqi Lu, Wei Qiu, Fuhua Peng, Yuge Wang

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.

Journal of neuroimmunology 2013 Feb 15

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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. 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. 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). 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. Copyright © 2012 Elsevier B.V. All rights reserved.

Citation

Weihua Mai, Xueqiang Hu, Zhengqi Lu, Wei Qiu, Fuhua Peng, Yuge Wang. 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. Journal of neuroimmunology. 2013 Feb 15;255(1-2):75-80