Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes |
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| Authors: | 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 Shiro Ikegawa |
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| Affiliation: | 1. Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4‐6‐1 Sirokanedai, Minato‐ku, Tokyo 108‐8639, Japan;2. Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan;3. Department of Orthopaedic and Neuro‐Musculoskeletal Surgery, Faculty of Medical and Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan;4. Department of Orthopaedic Surgery, Meijo Hospital, Nagoya, Japan;5. Department of Orthopaedic Surgery, National Hospital Organization, Kobe Medical Center, Kobe, Japan;6. Department of Advanced Medicine for Spine and Spinal Cord Disorders, Hokkaido University Graduate School of Medicine, Sapporo, Japan;7. Department of Orthopaedic Surgery, Seirei Sakura Citizen Hospital, Sakura, Japan;8. Scoliosis Center, Saiseikai Central Hospital, Tokyo, Japan;9. Department of Orthopaedic Surgery, Fukuoka Children's Hospital, Fukuoka, Japan;10. Department of Orthopaedic Surgery, Dokkyo Medical University School of Medicine, Mibu, Japan;11. Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Tokyo, Japan |
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| Abstract: | Adolescent 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. © 2010 Orthopaedic Research Society Published by Wiley Periodicals, Inc. J Orthop Res 29:834–837 |
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| Keywords: | adolescent idiopathic scoliosis estrogen receptor α estrogen receptor β predisposition curve severity |
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