A replication study for association of 53 single nucleotide polymorphisms in a scoliosis prognostic test with progression of adolescent idiopathic scoliosis in Japanese

Yoji Ogura, Yohei Takahashi, Ikuyo Kou, Masahiro Nakajima, Katsuki Kono, Noriaki Kawakami, Koki Uno, Manabu Ito, Shohei Minami, Haruhisa Yanagida, Hiroshi Taneichi, Ikuho Yonezawa, Taichi Tsuji, Teppei Suzuki, Hideki Sudo, Toshiaki Kotani, Koota Watanabe, Kazuhiro Chiba, Yoshiaki Toyama, Morio MatsumotoShiro Ikegawa

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)1375-1379
Number of pages5
JournalSpine
Volume38
Issue number16
DOIs
Publication statusPublished - 2013 Jul 15

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Scoliosis
Single Nucleotide Polymorphism
Gene Frequency
Genetic Association Studies

Keywords

  • adolescent idiopathic scoliosis
  • curve progression
  • single nucleotide polymorphism

ASJC Scopus subject areas

  • Clinical Neurology
  • Orthopedics and Sports Medicine

Cite this

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; Takahashi, Yohei; Kou, Ikuyo; Nakajima, Masahiro; Kono, Katsuki; Kawakami, Noriaki; Uno, Koki; Ito, Manabu; Minami, Shohei; Yanagida, Haruhisa; Taneichi, Hiroshi; Yonezawa, Ikuho; Tsuji, Taichi; Suzuki, Teppei; Sudo, Hideki; Kotani, Toshiaki; Watanabe, Koota; Chiba, Kazuhiro; Toyama, Yoshiaki; Matsumoto, Morio; Ikegawa, Shiro.

In: Spine, Vol. 38, No. 16, 15.07.2013, p. 1375-1379.

Research output: Contribution to journalArticle

Ogura, Y, Takahashi, Y, Kou, I, Nakajima, M, Kono, K, Kawakami, N, Uno, K, Ito, M, Minami, S, Yanagida, H, Taneichi, H, Yonezawa, I, Tsuji, T, Suzuki, T, Sudo, H, Kotani, T, Watanabe, K, Chiba, K, Toyama, Y, Matsumoto, M & Ikegawa, S 2013, 'A replication study for association of 53 single nucleotide polymorphisms in a scoliosis prognostic test with progression of adolescent idiopathic scoliosis in Japanese', Spine, vol. 38, no. 16, pp. 1375-1379. https://doi.org/10.1097/BRS.0b013e3182947d21
Ogura, Yoji ; Takahashi, Yohei ; Kou, Ikuyo ; Nakajima, Masahiro ; Kono, Katsuki ; Kawakami, Noriaki ; Uno, Koki ; Ito, Manabu ; Minami, Shohei ; Yanagida, Haruhisa ; Taneichi, Hiroshi ; Yonezawa, Ikuho ; Tsuji, Taichi ; Suzuki, Teppei ; Sudo, Hideki ; Kotani, Toshiaki ; Watanabe, Koota ; Chiba, Kazuhiro ; Toyama, Yoshiaki ; Matsumoto, Morio ; Ikegawa, Shiro. / A replication study for association of 53 single nucleotide polymorphisms in a scoliosis prognostic test with progression of adolescent idiopathic scoliosis in Japanese. In: Spine. 2013 ; Vol. 38, No. 16. pp. 1375-1379.
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T1 - A replication study for association of 53 single nucleotide polymorphisms in a scoliosis prognostic test with progression of adolescent idiopathic scoliosis in Japanese

AU - Ogura, Yoji

AU - Takahashi, Yohei

AU - Kou, Ikuyo

AU - Nakajima, Masahiro

AU - Kono, Katsuki

AU - Kawakami, Noriaki

AU - Uno, Koki

AU - Ito, Manabu

AU - Minami, Shohei

AU - Yanagida, Haruhisa

AU - Taneichi, Hiroshi

AU - Yonezawa, Ikuho

AU - Tsuji, Taichi

AU - Suzuki, Teppei

AU - Sudo, Hideki

AU - Kotani, Toshiaki

AU - Watanabe, Koota

AU - Chiba, Kazuhiro

AU - Toyama, Yoshiaki

AU - Matsumoto, Morio

AU - Ikegawa, Shiro

PY - 2013/7/15

Y1 - 2013/7/15

N2 - 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.

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KW - adolescent idiopathic scoliosis

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KW - single nucleotide polymorphism

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