TY - JOUR
T1 - Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3
AU - Miyake, Atsushi
AU - Kou, Ikuyo
AU - Takahashi, Yohei
AU - Johnson, Todd A.
AU - Ogura, Yoji
AU - Dai, Jin
AU - Qiu, Xusheng
AU - Takahashi, Atsushi
AU - Jiang, Hua
AU - Yan, Huang
AU - Kono, Katsuki
AU - Kawakami, Noriaki
AU - Uno, Koki
AU - Ito, Manabu
AU - Minami, Shohei
AU - Yanagida, Haruhisa
AU - Taneichi, Hiroshi
AU - Hosono, Naoya
AU - Tsuji, Taichi
AU - Suzuki, Teppei
AU - Sudo, Hideki
AU - Kotani, Toshiaki
AU - Yonezawa, Ikuho
AU - Kubo, Michiaki
AU - Tsunoda, Tatsuhiko
AU - Watanabe, Kota
AU - Chiba, Kazuhiro
AU - Toyama, Yoshiaki
AU - Qiu, Yong
AU - Matsumoto, Morio
AU - Ikegawa, Shiro
N1 - Funding Information:
We thank the individuals who participated in this study. A part of the study is supported by BioBank Japan.
PY - 2013/9/4
Y1 - 2013/9/4
N2 - Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting around 2% of adolescents worldwide. Genetic factors play an important role in its etiology. Using a genome-wide association study (GWAS), we recently identified novel AIS susceptibility loci on chromosomes 10q24.31 and 6q24.1. To identify more AIS susceptibility loci relating to its severity and progression, we performed GWAS by limiting the case subjects to those with severe AIS. Through a two-stage association study using a total of ∼12,000 Japanese subjects, we identified a common variant, rs12946942 that showed a significant association with severe AIS in the recessive model (P = 4.00×10-8, odds ratio [OR] = 2.05). Its association was replicated in a Chinese population (combined P = 6.43×10-12, OR = 2.21). rs12946942 is on chromosome 17q24.3 near the genes SOX9 and KCNJ2, which when mutated cause scoliosis phenotypes. Our findings will offer new insight into the etiology and progression of AIS.
AB - Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting around 2% of adolescents worldwide. Genetic factors play an important role in its etiology. Using a genome-wide association study (GWAS), we recently identified novel AIS susceptibility loci on chromosomes 10q24.31 and 6q24.1. To identify more AIS susceptibility loci relating to its severity and progression, we performed GWAS by limiting the case subjects to those with severe AIS. Through a two-stage association study using a total of ∼12,000 Japanese subjects, we identified a common variant, rs12946942 that showed a significant association with severe AIS in the recessive model (P = 4.00×10-8, odds ratio [OR] = 2.05). Its association was replicated in a Chinese population (combined P = 6.43×10-12, OR = 2.21). rs12946942 is on chromosome 17q24.3 near the genes SOX9 and KCNJ2, which when mutated cause scoliosis phenotypes. Our findings will offer new insight into the etiology and progression of AIS.
UR - http://www.scopus.com/inward/record.url?scp=84883357224&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84883357224&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0072802
DO - 10.1371/journal.pone.0072802
M3 - Article
C2 - 24023777
AN - SCOPUS:84883357224
SN - 1932-6203
VL - 8
JO - PloS one
JF - PloS one
IS - 9
M1 - e72802
ER -