PMID- 27012886
OWN - NLM
STAT- MEDLINE
DCOM- 20170309
LR  - 20181113
IS  - 1613-2246 (Electronic)
IS  - 0021-5155 (Linking)
VI  - 60
IP  - 3
DP  - 2016 May
TI  - Genetic analysis of the aquaporin-4 gene for anti-AQP4 antibody-positive 
      neuromyelitis optica in a Japanese population.
PG  - 198-205
LID - 10.1007/s10384-016-0441-5 [doi]
AB  - PURPOSE: Neuromyelitis optica (NMO) is an inflammatory demyelinating disorder 
      that generally affects the optic nerve and spinal cord. The etiology of this 
      disease is still uncertain, but autoantibodies to aquaporin-4 (AQP4) are specific 
      and pathogenic for NMO. Recent studies show that AQP4 gene variants are 
      associated with NMO. In this study, we assessed the contribution of AQP4 genetic 
      variants to susceptibility to anti-AQP4 antibody (AQP4-Ab)-positive NMO in a 
      Japanese population. METHODS: The subjects were 16 patients with AQP4-Ab-positive 
      NMO (13 sporadic cases, and 3 familial cases from 2 families) and 255 healthy 
      controls. All coding exons of AQP4 were sequenced and five tag single-nucleotide 
      polymorphisms (SNPs) in AQP4 were genotyped. We also performed an imputation 
      analysis to evaluate the potential association of un-genotyped SNPs in AQP4. 
      RESULTS: Known or novel mutations were not detected in any coding exon regions. 
      The T allele frequency of polymorphism (-810 bp (C/T): rs2075575) of the promoter 
      region in patients with AQP4-Ab-positive NMO was significantly higher than that 
      in controls (50.0 vs 25.7 %, P = 0.0036, Pc = 0.018 odds ratio = 2.89). No other 
      tag or imputed SNPs were significant. CONCLUSIONS: These findings suggest that 
      the T allele of rs2075575 is a risk for AQP4-Ab-positive NMO. However, the 
      results are the opposite of a previous study in the southern Han Chinese 
      population, and therefore further genetic studies are needed to determine the 
      possible contribution of the AQP4 region to development of NMO.
FAU - Ogasawara, Mikihide
AU  - Ogasawara M
AD  - Department of Ophthalmology, Jikei University School of Medicine, 3-25-8 
      Nishishinbashi, Minato-ku, Tokyo, 105-8461, Japan.
FAU - Meguro, Akira
AU  - Meguro A
AD  - Department of Ophthalmology, Yokohama City University School of Medicine, 
      Yokohama, Japan.
FAU - Sakai, Tsutomu
AU  - Sakai T
AD  - Department of Ophthalmology, Jikei University School of Medicine, 3-25-8 
      Nishishinbashi, Minato-ku, Tokyo, 105-8461, Japan. tstmski@jikei.ac.jp.
FAU - Mizuki, Nobuhisa
AU  - Mizuki N
AD  - Department of Ophthalmology, Yokohama City University School of Medicine, 
      Yokohama, Japan.
FAU - Takahashi, Toshiyuki
AU  - Takahashi T
AD  - Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, 
      Japan.
AD  - Department of Neurology, Yonezawa National Hospital, Yonezawa, Japan.
FAU - Fujihara, Kazuo
AU  - Fujihara K
AD  - Department of Multiple Sclerosis Therapeutics, Tohoku University Graduate School 
      of Medicine, Sendai, Japan.
FAU - Tsuneoka, Hiroshi
AU  - Tsuneoka H
AD  - Department of Ophthalmology, Jikei University School of Medicine, 3-25-8 
      Nishishinbashi, Minato-ku, Tokyo, 105-8461, Japan.
FAU - Shikishima, Keigo
AU  - Shikishima K
AD  - Department of Ophthalmology, Jikei University School of Medicine, 3-25-8 
      Nishishinbashi, Minato-ku, Tokyo, 105-8461, Japan.
LA  - eng
PT  - Journal Article
DEP - 20160325
PL  - Japan
TA  - Jpn J Ophthalmol
JT  - Japanese journal of ophthalmology
JID - 0044652
RN  - 0 (Aquaporin 4)
RN  - 0 (Autoantibodies)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Aquaporin 4/*genetics/immunology
MH  - *Autoantibodies
MH  - DNA/*genetics
MH  - Female
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Neuromyelitis Optica/diagnosis/*genetics/immunology
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Single Nucleotide
OTO - NOTNLM
OT  - AQP4
OT  - NMO
OT  - SNP
EDAT- 2016/03/26 06:00
MHDA- 2017/03/10 06:00
CRDT- 2016/03/26 06:00
PHST- 2015/08/06 00:00 [received]
PHST- 2016/02/29 00:00 [accepted]
PHST- 2016/03/26 06:00 [entrez]
PHST- 2016/03/26 06:00 [pubmed]
PHST- 2017/03/10 06:00 [medline]
AID - 10.1007/s10384-016-0441-5 [pii]
AID - 10.1007/s10384-016-0441-5 [doi]
PST - ppublish
SO  - Jpn J Ophthalmol. 2016 May;60(3):198-205. doi: 10.1007/s10384-016-0441-5. Epub 
      2016 Mar 25.