A segmental copy number loss of the sfmbt1 gene is a genetic risk for shunt-responsive, idiopathic normal pressure hydrocephalus (inph): A case-control study

Hidenori Sato, Yoshimi Takahashi, Luna Kimihira, Chifumi Iseki, Hajime Kato, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Shingo Koyama, Shigeki Arawaka, Toru Kawanami, Masakazu Miyajima, Naoyuki Samejima, Shinya Sato, Masahiro Kameda, Shinya Yamada, Daisuke Kita, Mitsunobu Kaijima, Isao Date, Yukihiko SonodaTakamasa Kayama, Nobumasa Kuwana, Hajime Arai, Takeo Kato

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Little is known about genetic risk factors for idiopathic normal pressure hydrocephalus (iNPH). We examined whether a copy number loss in intron 2 of the SFMBT1 gene could be a genetic risk for shunt-responsive, definite iNPH. Quantitative and digital PCR analyses revealed that 26.0% of shunt-responsive definite iNPH patients (n = 50) had such a genetic change, as compared with 4.2% of the healthy elderly (n = 191) (OR = 7.94, 95%CI: 2.82-23.79, p = 1.8 × 10-5) and 6.3% of patients with Parkinson's disease (n = 32) (OR = 5.18, 95%CI: 1.1-50.8, p = 0.038). The present study demonstrates that a copy number loss within intron 2 of the SFMBT1 gene may be a genetic risk factor for shunt-responsive definite iNPH.

Original languageEnglish
Article numbere0166615
JournalPLoS One
Volume11
Issue number11
DOIs
Publication statusPublished - Nov 1 2016

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Normal Pressure Hydrocephalus
hydrocephalus
case-control studies
Case-Control Studies
Genes
Introns
introns
risk factors
genes
Parkinson disease
Parkinson Disease
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

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A segmental copy number loss of the sfmbt1 gene is a genetic risk for shunt-responsive, idiopathic normal pressure hydrocephalus (inph) : A case-control study. / Sato, Hidenori; Takahashi, Yoshimi; Kimihira, Luna; Iseki, Chifumi; Kato, Hajime; Suzuki, Yuya; Igari, Ryosuke; Sato, Hiroyasu; Koyama, Shingo; Arawaka, Shigeki; Kawanami, Toru; Miyajima, Masakazu; Samejima, Naoyuki; Sato, Shinya; Kameda, Masahiro; Yamada, Shinya; Kita, Daisuke; Kaijima, Mitsunobu; Date, Isao; Sonoda, Yukihiko; Kayama, Takamasa; Kuwana, Nobumasa; Arai, Hajime; Kato, Takeo.

In: PLoS One, Vol. 11, No. 11, e0166615, 01.11.2016.

Research output: Contribution to journalArticle

Sato, H, Takahashi, Y, Kimihira, L, Iseki, C, Kato, H, Suzuki, Y, Igari, R, Sato, H, Koyama, S, Arawaka, S, Kawanami, T, Miyajima, M, Samejima, N, Sato, S, Kameda, M, Yamada, S, Kita, D, Kaijima, M, Date, I, Sonoda, Y, Kayama, T, Kuwana, N, Arai, H & Kato, T 2016, 'A segmental copy number loss of the sfmbt1 gene is a genetic risk for shunt-responsive, idiopathic normal pressure hydrocephalus (inph): A case-control study', PLoS One, vol. 11, no. 11, e0166615. https://doi.org/10.1371/journal.pone.0166615
Sato, Hidenori ; Takahashi, Yoshimi ; Kimihira, Luna ; Iseki, Chifumi ; Kato, Hajime ; Suzuki, Yuya ; Igari, Ryosuke ; Sato, Hiroyasu ; Koyama, Shingo ; Arawaka, Shigeki ; Kawanami, Toru ; Miyajima, Masakazu ; Samejima, Naoyuki ; Sato, Shinya ; Kameda, Masahiro ; Yamada, Shinya ; Kita, Daisuke ; Kaijima, Mitsunobu ; Date, Isao ; Sonoda, Yukihiko ; Kayama, Takamasa ; Kuwana, Nobumasa ; Arai, Hajime ; Kato, Takeo. / A segmental copy number loss of the sfmbt1 gene is a genetic risk for shunt-responsive, idiopathic normal pressure hydrocephalus (inph) : A case-control study. In: PLoS One. 2016 ; Vol. 11, No. 11.
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