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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
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2016
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| Materias: | |
| 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 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Sato, Hidenori |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-5115754 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Public Library of Science |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-51157542016-12-08 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 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 PLoS One Research Article 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. Public Library of Science 2016-11-18 /pmc/articles/PMC5115754/ /pubmed/27861535 http://dx.doi.org/10.1371/journal.pone.0166615 Text en © 2016 Sato et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| spellingShingle | Research Article 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 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 |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | segmental copy number loss of the sfmbt1 gene is a genetic risk for shunt-responsive, idiopathic normal pressure hydrocephalus (inph): a case-control study |
| topic | Research Article |
| url | 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 |
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