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

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