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:10.1371/journal.pone.0166615

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

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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 language	English
Article number	e0166615
Journal	PloS one
Volume	11
Issue number	11
DOIs	https://doi.org/10.1371/journal.pone.0166615
Publication status	Published - Nov 2016

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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., ... 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, 11(11), [e0166615]. https://doi.org/10.1371/journal.pone.0166615

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

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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.",

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

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AU - Kimihira, Luna

AU - Iseki, Chifumi

AU - Kato, Hajime

AU - Suzuki, Yuya

AU - Igari, Ryosuke

AU - Sato, Hiroyasu

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AU - Arawaka, Shigeki

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AU - Kaijima, Mitsunobu

AU - Date, Isao

AU - Sonoda, Yukihiko

AU - Kayama, Takamasa

AU - Kuwana, Nobumasa

AU - Arai, Hajime

AU - Kato, Takeo

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N2 - 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.

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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

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