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. 2016 Nov 18;11(11):e0166615.
doi: 10.1371/journal.pone.0166615. eCollection 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  1   2 , Yoshimi Takahashi  1 , Luna Kimihira  1 , Chifumi Iseki  1 , Hajime Kato  1 , Yuya Suzuki  1 , Ryosuke Igari  1 , Hiroyasu Sato  1 , Shingo Koyama  1 , Shigeki Arawaka  1 , Toru Kawanami  1 , Masakazu Miyajima  3 , Naoyuki Samejima  4 , Shinya Sato  5 , Masahiro Kameda  6 , Shinya Yamada  7 , Daisuke Kita  8 , Mitsunobu Kaijima  9 , Isao Date  6 , Yukihiko Sonoda  5 , Takamasa Kayama  5 , Nobumasa Kuwana  4 , Hajime Arai  3 , Takeo Kato  1
Affiliations

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 et al. PLoS One. .

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 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.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Binding sites of target-specific probe and reference probe.
The target-specific probe binds to intron 2 of SFMBT1 gene (chr3:53035556, NCBI build 37), and the reference probe to its intron 3 (chr3:52995796, NCBI build 37).
Fig 2
Fig 2. Frequency of copy number loss in intron 2 of SFMBT1 gene in iNPH, healthy control and Parkinson’s disease (PD).
See this image and copyright information in PMC

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