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.
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.
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.|Genomic Information Analysis Unit, Department of Genomic Cohort Research, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Hidenori
authors.initials: H
authors.lastname: Sato
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Luna
authors.initials: L
authors.lastname: Kimihira
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Chifumi
authors.initials: C
authors.lastname: Iseki
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Kato
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Yuya
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Igari
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Sato
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Shingo
authors.initials: S
authors.lastname: Koyama
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Shigeki
authors.initials: S
authors.lastname: Arawaka
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Kawanami
authors.affiliation: Department of Neurosurgery, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Miyajima
authors.affiliation: Department of Neurosurgery, Tokyo Kyosai Hospital, Tokyo, Japan.
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Samejima
authors.affiliation: Department of Neurosurgery, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Sato
authors.affiliation: Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kameda
authors.affiliation: Department of Neurosurgery, Toshiba Rinkan Hospital, Sagamihara, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Yamada
authors.affiliation: Department of Neurosurgery, Noto General Hospital, Nanao, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Kita
authors.affiliation: Department of Neurosurgery, Megumino Hospital, Eniwa, Japan.
authors.forename: Mitsunobu
authors.initials: M
authors.lastname: Kaijima
authors.affiliation: Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Isao
authors.initials: I
authors.lastname: Date
authors.affiliation: Department of Neurosurgery, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Yukihiko
authors.initials: Y
authors.lastname: Sonoda
authors.affiliation: Department of Neurosurgery, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Takamasa
authors.initials: T
authors.lastname: Kayama
authors.affiliation: Department of Neurosurgery, Tokyo Kyosai Hospital, Tokyo, Japan.
authors.forename: Nobumasa
authors.initials: N
authors.lastname: Kuwana
authors.affiliation: Department of Neurosurgery, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Arai
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002557:Cerebrospinal Fluid Shunts; D056915:DNA Copy Number Variations; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D006850:Hydrocephalus, Normal Pressure / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D007438:Introns; D008297:Male; D016017:Odds Ratio; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D012097:Repressor Proteins; C523369:SFMBT1 protein, human