Distinct genetic and infectious profiles in Japanese neuromyelitis optica patients according to anti-aquaporin 4 antibody status

Satoshi Yoshimura, Noriko Isobe, Takuya Matsushita, Tomomi Yonekawa, Katsuhisa Masaki, Shinya Sato, Yuji Kawano, Jun Ichi Kira, Katsuichi Miyamoto, Susumu Kusunoki, Yuji Nakatsuji, Hideki Mochizuki, Kazuhide Ochi, Masayasu Matsumoto, Takeshi Kanda, Hirofumi Ochi, Tetsuro Miki, Kazumasa Okada, Sadatoshi Tsuji

Research output: Contribution to journalArticlepeer-review

106 Citations (Scopus)


Objective: To clarify whether genetic and common infectious backgrounds are distinct, according to anti-aquaporin 4 (AQP4) antibody status in Japanese patients with neuromyelitis optica (NMO). Methods: We analysed human leucocyte antigen (HLA)-DRB1 and HLA-DPB1 alleles, and IgG antibodies against Helicobacter pylori, Chlamydia pneumoniae, varicella zoster virus and Epstein-Barr virus nuclear antigen (EBNA) in 116 patients with NMO, including 39 patients with neuromyelitis optica spectrum disorder (NMOSD), 145 multiple sclerosis (MS) patients and 367 unrelated healthy controls. 77 NMO/NMOSD patients were seropositive for AQP4 antibody while 39 were seronegative. Results: Compared with healthy controls, NMO/NMOSD patients showed a significantly lower frequency of DRB1&z.ast;0901 and significantly higher frequencies of DRB1&z.ast;1602 and DPB1&z.ast;0501 , which conferred susceptibility to anti-AQP4 antibody positive NMO/NMOSD, but not antibody negative NMO/NMOSD. DRB1&z.ast;0901 was a common protective allele, irrespective of the presence or absence of anti-AQP4 antibody. Anti-H pylori and anti- C pneumoniae antibodies were more commonly detected in anti-AQP4 antibody positive NMO/NMOSD patients than healthy controls. Antibody negative NMO/NMOSD patients did not differ from healthy controls regarding the presence of these antibodies. The presence or absence of antibodies against varicella zoster virus and EBNA did not vary among the groups. The frequencies of antibodies against these four pathogens were not significantly different between MS patients and healthy controls. Conclusions: Our results suggest that HLA-DRB1&z.ast;1602 and DPB1&z.ast;0501 alleles and H pylori and Chlamydia pneumonia infection are risk factors only for anti-AQP4 antibody positive NMO/NMOSD but not for anti-AQP4 antibody negative NMO/NMOSD.

Original languageEnglish
Pages (from-to)29-34
Number of pages6
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number1
Publication statusPublished - Jan 2013

All Science Journal Classification (ASJC) codes

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health


Dive into the research topics of 'Distinct genetic and infectious profiles in Japanese neuromyelitis optica patients according to anti-aquaporin 4 antibody status'. Together they form a unique fingerprint.

Cite this