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doi: 10.1097/BRS.0b013e3182947d21
Deformity

A Replication Study for Association of 53 Single Nucleotide Polymorphisms in a Scoliosis Prognostic Test With Progression of Adolescent Idiopathic Scoliosis in Japanese

Ogura, Yoji MD*,†; Takahashi, Yohei MD, PhD*,†; Kou, Ikuyo PhD*; Nakajima, Masahiro PhD*; Kono, Katsuki MD; Kawakami, Noriaki MD, DMSc§; Uno, Koki MD; Ito, Manabu MD, PhD; Minami, Shohei MD, PhD**; Yanagida, Haruhisa MD††; Taneichi, Hiroshi MD‡‡; Yonezawa, Ikuho MD§§; Tsuji, Taichi MD§; Suzuki, Teppei MD; Sudo, Hideki MD, PhD; Kotani, Toshiaki MD, PhD**; Watanabe, Kota MD, PhD; Chiba, Kazuhiro MD, PhD¶¶; Toyama, Yoshiaki MD, PhD; Matsumoto, Morio MD, PhD; Ikegawa, Shiro MD, PhD*

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Abstract

Study Design. A genetic association study of single nucleotide polymorphisms (SNPs) previously reported to be associated with curve progression of adolescent idiopathic scoliosis (AIS).

Objective. To determine whether the association of 53 SNPs with curve progression reported in white patients with AIS are replicated in Japanese patients with AIS.

Summary of Background Data. Predicting curve progression is important in clinical practice of AIS. The progression of AIS is reported to be associated with a number of genes. Associations with 53 SNPs have been reported, and the SNPs are used for a progression test in white patients with AIS; however, there has been no replication study for their association.

Methods. We recruited 2117 patients with AIS with 10° or more (Cobb angle) of scoliosis curves. They were divided into progression and nonprogression groups according to their Cobb angle. We defined the progression of the curve as Cobb angle more than 50° for skeletally mature subjects and more than 40° for immature patients, subjects. We defined the nonprogression of the curve as Cobb angle 50° or less only for skeletally mature subjects. Of the 2117 patients, 1714 patients with AIS were allocated to either the progression or nonprogression group. We evaluated the association of 53 SNPs with curve progression by comparing risk allele frequencies between the 2 groups.

Results. We evaluated the progression (N = 600) and nonprogression (N = 1114) subjects. Their risk allele frequencies were not different significantly. We found no replication of the association on AIS curve progression in any of the SNPs.

Conclusion. The associations of the 53 SNPs with progression of AIS curve are not definite. Large-scale association studies based on appropriate criteria for progression would be necessary to identify SNPs associated with the curve progression.

Level of Evidence: N/A

© 2013 by Lippincott Williams & Wilkins

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