title: Human aquaporin 4 gene polymorphisms in Chinese patients with neuromyelitis optica.
abstract: OBJECTIVE
  To investigate the association between aquaporin 4 (AQP4) gene polymorphisms and Chinese patients with neuromyelitis optica (NMO).
  
  
  METHODS
  122 consecutive anti-AQP4 autoantibody (NMO-IgG) seropositive cases were enrolled for gene sequencing. Furthermore, ten SNPs were selected and genotyped for a case-control association analysis on 208 cases and 204 healthy subjects.
  
  
  RESULTS
  14 novel SNPs were identified, while there were no nonsynonymous mutations and their frequency was low. The heterozygous genotype at two 3' UTR SNPs was significantly higher in cases than controls: the A/T genotype of SNP rs1058424 (54.81% vs. 42.65%, p(adjusted)=0.024, OR=1.670, 95% CI=1.071-2.605) and the C/T genotype of SNP rs3763043 (53.85% vs. 42.65%, p(adjusted)=0.028, OR=1.638, 95% CI=1.054-2.545). Moreover, the 3' UTR haplotype ATATGGAT may be protective for NMO (7.67% vs. 12.18%, p=0.042).
  
  
  CONCLUSIONS
  Polymorphisms in the coding region of AQP4 are unlikely to confer NMO susceptibility. However, the 3' UTR of this gene presents several polymorphic sites that may affect NMO risk in the Chinese.
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Qiu
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Yanyu
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Li
authors.initials: L
authors.lastname: Rui
authors.affiliation: School of Mathmatics and Computational Science, Sun Yat-sen University, China.
authors.forename: Li
authors.initials: L
authors.lastname: Caixia
authors.affiliation: Department of Neurology, Second Affiliated Hospital of GuangZhou Medical University, China.
authors.forename: Long
authors.initials: L
authors.lastname: Youming
authors.affiliation: Department of clinical laboratory, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Huang
authors.initials: H
authors.lastname: Jianhua
authors.affiliation: Department of Neurology, Fifth Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Mai
authors.initials: M
authors.lastname: Weihua
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Sun
authors.initials: S
authors.lastname: Xiaobo
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Wen
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Ying
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Zhengqi
authors.affiliation: Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China. Electronic address: huxueqiangzssy@qq.com.
authors.forename: Hu
authors.initials: H
authors.lastname: Xueqiang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D051401:Aquaporin 4 / Q000235:genetics* / Q000276:immunology; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D001323:Autoantibodies / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009471:Neuromyelitis Optica / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D020641:Polymorphism, Single Nucleotide / Q000276:immunology; D012307:Risk Factors; D055815:Young Adult
chemical_list: C496030:AQP4 protein, human; D051401:Aquaporin 4; D001323:Autoantibodies
keywords: Aquaporin 4; Gene; Neuromyelitis optica; Single nucleotide polymorphism