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Nov, 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
  • 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 Aral
  • Takeo Kato
  • Display all

Volume
11
Number
11
Language
English
Publishing type
DOI
10.1371/journal.pone.0166615
Publisher
PUBLIC LIBRARY SCIENCE

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.

Link information
DOI
https://doi.org/10.1371/journal.pone.0166615
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000388350300078&DestApp=WOS_CPL
ID information
  • DOI : 10.1371/journal.pone.0166615
  • ISSN : 1932-6203
  • Web of Science ID : WOS:000388350300078

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