• Yohei Takahashi, Morio Matsumoto, Tatsuki Karasugi, Kota Watanabe, Kazuhiro Chiba, Noriaki Kawakami, Taichi Tsuji, Koki Uno, Teppei Suzuki, Manabu Ito, Hideki Sudo, Shohei Minami, Toshiaki Kotani, Katsuki Kono, Haruhisa Yanagida, Hiroshi Taneichi, Atsushi Takahashi, Yoshiaki Toyama, and Shiro Ikegawa.
• Center for Genomic Medicine, RIKEN, Minato-ku, Tokyo, Japan.
• J. Orthop. Res. 2011 Jun 1; 29 (6): 834-7.

AbstractAdolescent idiopathic scoliosis (AIS) is a common disorder with a strong genetic predisposition. Associations between AIS and common single nucleotide polymorphisms (SNPs) in estrogen receptor genes have been reported. rs9340799 in the gene for estrogen receptor α (ESR1) is reported to be associated with curve severity in Japanese and with AIS predisposition and curve severity in Chinese. In addition, rs1256120 in the gene for estrogen receptor β (ESR2) is reported to be associated with AIS predisposition and curve severity in Chinese. However, the sample sizes of these previous studies were small, and the associations of these SNPs have not been replicated. To examine the association between AIS and estrogen receptor genes, we investigated the association of rs9340799 and rs1256120 with AIS predisposition and curve severity using a large Japanese population, consisting of 798 AIS patients and 637 sex-matched controls. We found no association of either SNP with AIS predisposition or curve severity in the Japanese population. Considering the statistical power of the present study and the limitations of the previous reports, we conclude that the associations of rs9340799 and rs1256120 with AIS predisposition and curve severity are negative.Copyright © 2010 Orthopaedic Research Society.

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