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

被引：29

作者：

Sato, Hidenori ^{[1
,2
]}

Takahashi, Yoshimi ^{[1
]}

Kimihira, Luna ^{[1
]}

Iseki, Chifumi ^{[1
,10
]}

Kato, Hajime ^{[1
]}

Suzuki, Yuya ^{[1
]}

Igari, Ryosuke ^{[1
]}

Sato, Hiroyasu ^{[1
]}

Koyama, Shingo ^{[1
]}

Arawaka, Shigeki ^{[1
]}

Kawanami, Toru ^{[1
]}

Miyajima, Masakazu ^{[3
]}

Samejima, Naoyuki ^{[4
]}

Sato, Shinya ^{[5
]}

Kameda, Masahiro ^{[6
]}

Yamada, Shinya ^{[7
]}

Kita, Daisuke ^{[8
,11
]}

Kaijima, Mitsunobu ^{[9
]}

Date, Isao ^{[6
]}

Sonoda, Yukihiko ^{[5
]}

Kayama, Takamasa ^{[5
]}

Kuwana, Nobumasa ^{[4
]}

Aral, Hajime ^{[3
]}

Kato, Takeo ^{[1
]}

机构：

[1] Yamagata Univ, Dept Neurol Hematol Metab Endocrinol & Diabetol, Fac Med, Yamagata, Japan

[2] Yamagata Univ, Dept Genom Cohort Res, Genom Informat Anal Unit, Fac Med, Yamagata, Japan

[3] Juntendo Univ, Grad Sch Med, Dept Neurosurg, Tokyo, Japan

[4] Tokyo Kyosai Hosp, Dept Neurosurg, Tokyo, Japan

[5] Yamagata Univ, Dept Neurosurg, Fac Med, Yamagata, Japan

[6] Okayama Univ, Dept Neurol Surg, Grad Sch Med Dent & Pharmaceut Sci, Okayama, Japan

[7] Toshiba Rinkan Hosp, Dept Neurosurg, Sagamihara, Kanagawa, Japan

[8] Noto Gen Hosp, Dept Neurosurg, Nanao, Japan

[9] Megumino Hosp, Dept Neurosurg, Eniwa, Japan

[10] Yamagata Univ, Dept Clin Neurosci, Fac Med, Yamagata, Japan

[11] Yokohama Sakae Kyosai Hosp, Dept Stroke Care & Neurosurg, Yokohama, Kanagawa, Japan

来源：

PLOS ONE | 2016年 / 11卷 / 11期

关键词：

ASSOCIATION; COMMUNITY; PROTEIN; NPH;

D O I：

10.1371/journal.pone.0166615

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：9

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