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.
J Neuroimmunol
; 255(1-2): 75-80, 2013 Feb 15.
Article
em En
| MEDLINE
| ID: mdl-23116879
ABSTRACT
OBJECTIVES:
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Autoanticorpos
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Neuromielite Óptica
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Regiões Promotoras Genéticas
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Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central
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Aquaporina 4
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Neuroimmunol
Ano de publicação:
2013
Tipo de documento:
Article