A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.
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 × 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.
Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.
Yohei
Y
Takahashi
Ikuyo
I
Kou
Atsushi
A
Takahashi
Todd A
TA
Johnson
Katsuki
K
Kono
Noriaki
N
Kawakami
Koki
K
Uno
Manabu
M
Ito
Shohei
S
Minami
Haruhisa
H
Yanagida
Hiroshi
H
Taneichi
Taichi
T
Tsuji
Teppei
T
Suzuki
Hideki
H
Sudo
Toshiaki
T
Kotani
Kota
K
Watanabe
Kazuhiro
K
Chiba
Naoya
N
Hosono
Naoyuki
N
Kamatani
Tatsuhiko
T
Tsunoda
Yoshiaki
Y
Toyama
Michiaki
M
Kubo
Morio
M
Matsumoto
Shiro
S
Ikegawa
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D025341:Principal Component Analysis; D012600:Scoliosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
D018398:Homeodomain Proteins; C542809:LBX1 protein, human; D014157:Transcription Factors