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：32

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

共 28 条

[1] SYMPTOMATIC OCCULT HYDROCEPHALUS WITH NORMAL CEREBROSPINAL-FLUID PRESSURE - A TREATABLE SYNDROME [J].

ADAMS, RD ;

FISHER, CM ;

HAKIM, S ;

OJEMANN, RG ;

SWEET, WH .

NEW ENGLAND JOURNAL OF MEDICINE, 1965, 273 (03) :117-&

[2] The role of G-protein-coupled receptor kinase 5 in pathogenesis of sporadic Parkinson's disease [J].

Arawaka, Shigeki ;

Wada, Manabu ;

Goto, Saori ;

Karube, Hiroki ;

Sakamoto, Masahiro ;

Ren, Chang-Hong ;

Koyama, Shingo ;

Nagasawa, Hikaru ;

Kimura, Hideki ;

Kawanami, Toru ;

Kurita, Keiji ;

Tajima, Katsushi ;

Daimon, Makoto ;

Baba, Masanori ;

Kido, Takashi ;

Saino, Sachiko ;

Goto, Kaoru ;

Asao, Hironobu ;

Kitanaka, Chihumi ;

Takashita, Emi ;

Hongo, Seiji ;

Nakamura, Takao ;

Kayama, Takamasa ;

Suzuki, Yoshihiro ;

Kobayashi, Kazuo ;

Katagiri, Tadashi ;

Kurokawa, Katsuro ;

Kurimura, Masayuki ;

Toyoshima, Itaru ;

Niizato, Kazuhiro ;

Tsuchiya, Kuniaki ;

Iwatsubo, Takeshi ;

Muramatsu, Masaaki ;

Matsumine, Hiroto ;

Kato, Takeo .

JOURNAL OF NEUROSCIENCE, 2006, 26 (36) :9227-9238

[3] MBT domain proteins in development and disease [J].

Bonasio, Roberto ;

Lecona, Emilio ;

Reinberg, Danny .

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, 2010, 21 (02) :221-230

[4] Origins and functional impact of copy number variation in the human genome [J].

Conrad, Donald F. ;

Pinto, Dalila ;

Redon, Richard ;

Feuk, Lars ;

Gokcumen, Omer ;

Zhang, Yujun ;

Aerts, Jan ;

Andrews, T. Daniel ;

Barnes, Chris ;

Campbell, Peter ;

Fitzgerald, Tomas ;

Hu, Min ;

Ihm, Chun Hwa ;

Kristiansson, Kati ;

MacArthur, Daniel G. ;

MacDonald, Jeffrey R. ;

Onyiah, Ifejinelo ;

Pang, Andy Wing Chun ;

Robson, Sam ;

Stirrups, Kathy ;

Valsesia, Armand ;

Walter, Klaudia ;

Wei, John ;

Tyler-Smith, Chris ;

Carter, Nigel P. ;

Lee, Charles ;

Scherer, Stephen W. ;

Hurles, Matthew E. .

NATURE, 2010, 464 (7289) :704-712

[5] Systematic assessment of copy number variant detection via genome-wide SNP genotyping [J].

Cooper, Gregory M. ;

Zerr, Troy ;

Kidd, Jeffrey M. ;

Eichler, Evan E. ;

Nickerson, Deborah A. .

NATURE GENETICS, 2008, 40 (10) :1199-1203

[6] Normal-Pressure Hydrocephalus: Is There a Genetic Predisposition? [J].

Cusimano, M. D. ;

Rewilak, D. ;

Stuss, D. T. ;

Barrera-Martinez, J. C. ;

Salehi, F. ;

Freedman, M. .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2011, 38 (02) :274-281

[7] Salt consumption-dependent association of the GNB3 gene polymorphism with type 2 DM [J].

Daimon, Makoto ;

Sato, Hidenori ;

Sasaki, Satoshi ;

Toriyama, Sayumi ;

Emi, Mitsuru ;

Muramatsu, Masaaki ;

Hunt, Steven C. ;

Hopkins, Paul N. ;

Karasawa, Shigeru ;

Wada, Kiriko ;

Jimbu, Yumi ;

Kameda, Wataru ;

Susa, Shinji ;

Oizumi, Toshihide ;

Fukao, Akira ;

Kubota, Isao ;

Kawata, Sumio ;

Kato, Takeo .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2008, 374 (03) :576-580

[8] Association of ApoE genotype with clinical features and outcome in idiopathic normal pressure hydrocephalus (iNPH): a preliminary report [J].

Gudmundsson, Gardar ;

Kristjansdottir, Gudlaug ;

Cook, Elizabeth ;

Olafsson, Isleifur .

ACTA NEUROCHIRURGICA, 2009, 151 (11) :1511-1512

[9]

Hakim S, 1965, J Neurol Sci, V2, P307, DOI 10.1016/0022-510X(65)90016-X

[10] Incidence of idiopathic normal pressure hydrocephalus (iNPH): A 10-year follow-up study of a rural community in Japan [J].

Iseki, Chifumi ;

Takahashi, Yoshimi ;

Wada, Manabu ;

Kawanami, Toru ;

Adachi, Makoto ;

Kato, Takeo .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 339 (1-2) :108-112

← 1 2 3 →