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

研究成果: ジャーナルへの寄稿記事

1 引用 (Scopus)

抄録

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.

元の言語英語
ページ(範囲)283-287
ページ数5
ジャーナルClinical and Experimental Neuroimmunology
4
発行部数3
DOI
出版物ステータス出版済み - 12 1 2013

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Neuromyelitis Optica
Disease Susceptibility
Protein Kinase C
Multiple Sclerosis
Demyelinating Diseases
Sample Size
Population
Single Nucleotide Polymorphism
Phosphotransferases
Central Nervous System

All Science Journal Classification (ASJC) codes

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

これを引用

Protein kinase C-η polymorphism rs2230500 does not confer disease susceptibility to multiple sclerosis or neuromyelitis optica. / Kawano, Yuji; Matsushita, Takuya; Cui, Yi Wen; Isobe, Noriko; Yoshimura, Satoshi; Yonekawa, Tomomi; Masaki, Katsuhisa; Yamasaki, Ryo; Murai, Hiroyuki; Kira, Jun-Ichi.

:: Clinical and Experimental Neuroimmunology, 巻 4, 番号 3, 01.12.2013, p. 283-287.

研究成果: ジャーナルへの寄稿記事

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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.",
author = "Yuji Kawano and Takuya Matsushita and Cui, {Yi Wen} and Noriko Isobe and Satoshi Yoshimura and Tomomi Yonekawa and Katsuhisa Masaki and Ryo Yamasaki and Hiroyuki Murai and Jun-Ichi Kira",
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T1 - Protein kinase C-η polymorphism rs2230500 does not confer disease susceptibility to multiple sclerosis or neuromyelitis optica

AU - Kawano, Yuji

AU - Matsushita, Takuya

AU - Cui, Yi Wen

AU - Isobe, Noriko

AU - Yoshimura, Satoshi

AU - Yonekawa, Tomomi

AU - Masaki, Katsuhisa

AU - Yamasaki, Ryo

AU - Murai, Hiroyuki

AU - Kira, Jun-Ichi

PY - 2013/12/1

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N2 - 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.

AB - 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.

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