Associations of aquaporin-4 promoter polymorphism to multiple sclerosis and neuromyelitis optica in southern Chinese population
10.3760/cma.j.issn.1006-7876.2012.05.006
- VernacularTitle:水通道蛋白4启动子基因多态性与多发性硬化、视神经脊髓炎遗传易患性的关系
- Author:
Weihua MAI
;
Xueqiang HU
;
Youming LONG
;
Zhengqi LU
;
Fuhua PENG
;
Yuge WANG
- Publication Type:Journal Article
- Keywords:
Multiple sclerosis;
Neuromyelitis optica;
Aquaporin 4;
Polymorphism,genetic
- From:
Chinese Journal of Neurology
2012;45(5):312-317
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the associations of aquaporin-4 (AQP4) promoter polymorphisms with anti-AQP4 antibody and genetic susceptibility to multiple sclerosis (MS) and neuromyelitis optica (NMO) in Southern Chinese population.Methods The polymorphisms of AQP4promoter 0 and 1 were analyzed by PCR and DNA sequencing in 18 NMO,38 MS,13 recurrent myelitis (RM),6 recurrent optic neuritis (RON)patients and 39 healthy controls. Results Fourteen polymorphism loci were observed in AQP4-promoter 0,while 6 ones were observed in AQP4-promoter 1.Among them,the incidence rate of polymorphism at position - 1003 bp (A-G) of AQP4-promoter 0 in anti-AQP4 antibody-positive patients was significantly higher than that in anti-AQP4 antibody-negative patients and controls (former:13/18 vs 20/45,P =0.046; latter:13/18 vs 10/39,P =0.001 ).The incidence rates of polymorphism at position between -401 bp and -400 bp ( C inserted) of AQP4-promoter 1 in anti-AQP4 antibody-positive and -negative patients were significantly higher than that in controls( former:5/16 vs 0/28,P =0.008; latter:8/38 vs 0/28,P =0.027 ). The incidence rates of polymorphism at position - 1003 bp (A-G) of AQP4-promoter 0 and position between -401 bp and -400 bp ( C inserted)of AQP4-promoter 1 in patients with NMO and MS were significantly higher than that in controls( NMO:11/18 vs 10/39,P =0.010;4/15 vs 0/28,P =0.020; MS:19/38 vs 10/39,P =0.027;8/34 vs 0/28,P =0.018).Conclusions Polymorphisms loci were observed in AQP4-promoter 0 and AQP4-promoter 1,which may have an influence on the susceptibility to MS and NMO.Polymorphism at position - 1003 bp ( A-G) of AQP4-promoter 0 may be related to the emergence of anti-AQP4 antibody in patients with NMO and MS.
