A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis

被引：190

作者：

Takahashi, Yohei ^{[1
,2
]}

Kou, Ikuyo ^{[1
]}

Takahashi, Atsushi ^{[3
]}

Johnson, Todd A. ^{[4
]}

Kono, Katsuki ^{[5
]}

Kawakami, Noriaki ^{[6
]}

Uno, Koki ^{[7
]}

Ito, Manabu ^{[8
]}

Minami, Shohei ^{[9
]}

Yanagida, Haruhisa ^{[10
]}

Taneichi, Hiroshi ^{[11
]}

Tsuji, Taichi ^{[6
]}

Suzuki, Teppei ^{[7
]}

Sudo, Hideki ^{[8
]}

Kotani, Toshiaki ^{[9
]}

Watanabe, Kota ^{[2
]}

Chiba, Kazuhiro ^{[2
]}

Hosono, Naoya ^{[12
]}

Kamatani, Naoyuki ^{[3
]}

Tsunoda, Tatsuhiko ^{[4
]}

Toyama, Yoshiaki ^{[2
]}

Kubo, Michiaki ^{[12
]}

Matsumoto, Morio ^{[2
]}

Ikegawa, Shiro ^{[1
]}

机构：

[1] RIKEN, Lab Bone & Joint Dis, Ctr Genom Med, Tokyo, Japan

[2] Keio Univ, Sch Med, Dept Orthopaed Surg, Tokyo, Japan

[3] RIKEN, Lab Stat Anal, Ctr Genom Med, Yokohama, Kanagawa, Japan

[4] RIKEN, Lab Med Informat, Ctr Genom Med, Yokohama, Kanagawa, Japan

[5] Saiseikai Cent Hosp, Scoliosis Ctr, Tokyo, Japan

[6] Meijo Hosp, Dept Orthopaed Surg, Nagoya, Aichi, Japan

[7] Kobe Med Ctr, Dept Orthopaed Surg, Natl Hosp Org, Kobe, Hyogo, Japan

[8] Hokkaido Univ, Dept Adv Med Spine & Spinal Cord Disorders, Grad Sch Med, Sapporo, Hokkaido, Japan

[9] Seirei Sakura Citizen Hosp, Dept Orthopaed Surg, Sakura, Japan

[10] Fukuoka Childrens Hosp, Dept Orthopaed Surg, Fukuoka, Japan

[11] Dokkyo Med Univ, Dept Orthopaed Surg, Sch Med, Mibu, Tochigi, Japan

[12] RIKEN, Lab Genotyping Dev, Ctr Genom Med, Yokohama, Kanagawa, Japan

来源：

NATURE GENETICS | 2011年 / 43卷 / 12期

关键词：

DORSAL SPINAL-CORD; TRANSMITTER PHENOTYPES; GENE POLYMORPHISMS; SUSCEPTIBILITY; NEURONS; CHINESE;

D O I：

10.1038/ng.974

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2-3% of school-age children worldwide(1). Genetic factors have been implicated in its etiology(2). Through a genome-wide association study (GWAS) and replication study involving a total of 1,376 Japanese females with adolescent idiopathic scoliosis and 11,297 female controls, we identified a locus at chromosome 10q24.31 associated with adolescent idiopathic scoliosis susceptibility. The most significant SNP (rs11190870; combined P = 1.24 x 10(-19); odds ratio (OR) = 1.56) is located near LBX1 (encoding ladybird homeobox 1). The identification of this susceptibility locus provides new insights into the pathogenesis of adolescent idiopathic scoliosis.

引用

页码：1237 / U96

页数：5

共 31 条

[1] A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids
Cha, Pei-Chieng
Takahashi, Atsushi
Hosono, Naoya
Low, Siew-Kee
Kamatani, Naoyuki
Kubo, Michiaki
Nakamura, Yusuke
[J]. NATURE GENETICS, 2011, 43 (05) : 447 - +
[2] Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population
Chen, Zhijun
Tang, Nelson L. S.
Cao, Xingbin
Qiao, Di
Yi, Long
Cheng, Jack C. Y.
Qiu, Yong
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (04) : 525 - 532
[3] Lbx1 and Tlx3 are opposing switches in determining GABAergic versus glutamatergic transmitter phenotypes
Cheng, LP
Samad, OA
Xu, Y
Mizuguchi, R
Luo, P
Shirasawa, S
Goulding, M
Ma, QF
[J]. NATURE NEUROSCIENCE, 2005, 8 (11) : 1510 - 1515
[4] Lbx1 specifies somatosensory association Interneurons in the dorsal spinal cord
Gross, MK
Dottori, M
Goulding, M
[J]. NEURON, 2002, 34 (04) : 535 - 549
[5] Balance control in adolescents with idiopathic scoliosis and disturbed somatosensory function
Guo, Xia
Chau, W. W.
Hui-Chan, Christina W. Y.
Cheung, Catherine S. K.
Tsang, William W. N.
Cheng, Jack C. Y.
[J]. SPINE, 2006, 31 (14) : E437 - E440
[6] Ptf1a, Lbx1 and Pax2 coordinate glycinergic and peptidergic transmitter phenotypes in dorsal spinal inhibitory neurons
Huang, Menggui
Huang, Tianwen
Xiang, Yang
Xie, Zhiqin
Chen, Ying
Yan, Rui
Xu, Jianyang
Cheng, Leping
[J]. DEVELOPMENTAL BIOLOGY, 2008, 322 (02) : 394 - 405
[7] Inoue Masatoshi, 2002, Stud Health Technol Inform, V91, P90
[8] MOUSE LBX1 AND HUMAN LBX1 DEFINE A NOVEL MAMMALIAN HOMEOBOX GENE FAMILY RELATED TO THE DROSOPHILA LADY BIRD GENES
JAGLA, K
DOLLE, P
MATTEI, MG
JAGLA, T
SCHUHBAUR, B
DRETZEN, G
BELLARD, F
BELLARD, M
[J]. MECHANISMS OF DEVELOPMENT, 1995, 53 (03) : 345 - 356
[9] Scoliosis in twins - A meta-analysis of the literature and report of six cases
Kesling, KL
Reinker, KA
[J]. SPINE, 1997, 22 (17) : 2009 - 2014
[10] The Pathogenesis of Adolescent Idiopathic Scoliosis Review of the Literature
Kouwenhoven, Jan-Willem M.
Castelein, Rene M.
[J]. SPINE, 2008, 33 (26) : 2898 - 2908

← 1 2 3 4 →