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

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-respon...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115754/
https://www.ncbi.nlm.nih.gov/pubmed/27861535
http://dx.doi.org/10.1371/journal.pone.0166615
Descripción
Sumario: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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