Protein kinase C-η polymorphism rs2230500 does not confer disease susceptibility to multiple sclerosis or neuromyelitis optica

Yuji Kawano, Takuya Matsushita, Yi Wen Cui, Noriko Isobe, Satoshi Yoshimura, Tomomi Yonekawa, Katsuhisa Masaki, Ryo Yamasaki, Hiroyuki Murai, Jun Ichi Kira

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1 Citation (Scopus)

Abstract

Objectives To determine whether the non-synonymous 1425G/A polymorphism (rs2230500), an Asian-specific single nucleotide polymorphism that increases the kinase activity and affects the function of immune cells, of the protein kinase C-η gene (PRKCH) confers the risk of developing idiopathic demyelinating diseases of the central nervous system in a Japanese population. Methods Blood samples were collected from 96 multiple sclerosis (MS) patients, 52 neuromyelitis optica (NMO)/NMO spectrum disorder (NMOSD) patients and 151 healthy controls. The polymorphism rs2230500 was genotyped by sequencing. Results No significant association was observed between the PRKCH rs2230500 polymorphism and the risk of either MS or NMO/NMOSD. Clinical characteristics were also unaffected by the rs2230500 status. Conclusions Although the possibility that PRKCH has some effect on MS and NMO/NMOSD risk cannot be completely excluded because of the small study sample size, the polymorphism rs2230500 did not appear to confer disease susceptibility to MS or NMO/NMOSD in this Japanese population.

Original languageEnglish
Pages (from-to)283-287
Number of pages5
JournalClinical and Experimental Neuroimmunology
Volume4
Issue number3
DOIs
Publication statusPublished - Dec 2013

All Science Journal Classification (ASJC) codes

  • Neuroscience (miscellaneous)
  • Immunology
  • Immunology and Microbiology (miscellaneous)
  • Clinical Neurology

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