PLoS ONE (Jan 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.

  • 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 Sonoda,
  • Takamasa Kayama,
  • Nobumasa Kuwana,
  • Hajime Arai,
  • Takeo Kato

DOI
https://doi.org/10.1371/journal.pone.0166615
Journal volume & issue
Vol. 11, no. 11
p. e0166615

Abstract

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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 x 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.