Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation

Tatsuki Karasugi, Kei Semba, Yuichiro Hirose, Anthi Kelempisioti, Masahiro Nakajima, Atsushi Miyake, Tatsuya Furuichi, Yoshiharu Kawaguchi, Yasuo Mikami, Kazuhiro Chiba, Michihiro Kamata, Kouichi Ozaki, Atsushi Takahashi, Pirkka Mäkelä, Jaro Karppinen, Tomoatsu Kimura, Toshikazu Kubo, Yoshiaki Toyama, Ken Ichi Yamamura, Minna MännikköHiroshi Mizuta, Shiro Ikegawa

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Lumbar disc herniation (LDH) is one of the most common musculo-skeletal diseases. Recent studies have indicated that LDH has strong genetic determinants, and several susceptibility genes have been reported to associate with LDH; however, its etiology and pathogenesis still remain unclear. KIAA1217 (alias SKT, the human homolog of murine Skt [Sickle tail]) is a good candidate for an LDH susceptibility gene because SKT is specifically expressed in nucleus pulposa of intervertebral discs (IVDs) in humans and mice, and SktGt mice, which are established through a large-scale gene-trap mutagenesis, exhibit progressive, postnatal onset abnormality of the IVDs. Here, we report the association of SKT with LDH. Using tag SNPs, we examined the association in two independent Japanese case-control populations and found a significant association with SKT rs16924573 in the allele frequency model (p = 0.0015). The association was replicated in a Finnish case-control population (p = 0.026). The combined p value of the two population by meta-analysis is 0.00040 (OR, 1.34; 95% CI, 1.14-1.58). Our data indicate that SKT is involved in the etiology of LDH.

Original languageEnglish
Pages (from-to)1537-1543
Number of pages7
JournalJournal of Bone and Mineral Research
Volume24
Issue number9
DOIs
Publication statusPublished - 2009

Fingerprint

Single Nucleotide Polymorphism
Intervertebral Disc
Population
Genes
Gene Frequency
Mutagenesis
Meta-Analysis
Tail

Keywords

  • Intervertebral disc
  • KIAA1217
  • Lumbar disc herniation
  • Meta-analysis
  • SKT

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Karasugi, T., Semba, K., Hirose, Y., Kelempisioti, A., Nakajima, M., Miyake, A., ... Ikegawa, S. (2009). Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation. Journal of Bone and Mineral Research, 24(9), 1537-1543. https://doi.org/10.1359/jbmr.090314

Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation. / Karasugi, Tatsuki; Semba, Kei; Hirose, Yuichiro; Kelempisioti, Anthi; Nakajima, Masahiro; Miyake, Atsushi; Furuichi, Tatsuya; Kawaguchi, Yoshiharu; Mikami, Yasuo; Chiba, Kazuhiro; Kamata, Michihiro; Ozaki, Kouichi; Takahashi, Atsushi; Mäkelä, Pirkka; Karppinen, Jaro; Kimura, Tomoatsu; Kubo, Toshikazu; Toyama, Yoshiaki; Yamamura, Ken Ichi; Männikkö, Minna; Mizuta, Hiroshi; Ikegawa, Shiro.

In: Journal of Bone and Mineral Research, Vol. 24, No. 9, 2009, p. 1537-1543.

Research output: Contribution to journalArticle

Karasugi, T, Semba, K, Hirose, Y, Kelempisioti, A, Nakajima, M, Miyake, A, Furuichi, T, Kawaguchi, Y, Mikami, Y, Chiba, K, Kamata, M, Ozaki, K, Takahashi, A, Mäkelä, P, Karppinen, J, Kimura, T, Kubo, T, Toyama, Y, Yamamura, KI, Männikkö, M, Mizuta, H & Ikegawa, S 2009, 'Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation', Journal of Bone and Mineral Research, vol. 24, no. 9, pp. 1537-1543. https://doi.org/10.1359/jbmr.090314
Karasugi, Tatsuki ; Semba, Kei ; Hirose, Yuichiro ; Kelempisioti, Anthi ; Nakajima, Masahiro ; Miyake, Atsushi ; Furuichi, Tatsuya ; Kawaguchi, Yoshiharu ; Mikami, Yasuo ; Chiba, Kazuhiro ; Kamata, Michihiro ; Ozaki, Kouichi ; Takahashi, Atsushi ; Mäkelä, Pirkka ; Karppinen, Jaro ; Kimura, Tomoatsu ; Kubo, Toshikazu ; Toyama, Yoshiaki ; Yamamura, Ken Ichi ; Männikkö, Minna ; Mizuta, Hiroshi ; Ikegawa, Shiro. / Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation. In: Journal of Bone and Mineral Research. 2009 ; Vol. 24, No. 9. pp. 1537-1543.
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AU - Karasugi, Tatsuki

AU - Semba, Kei

AU - Hirose, Yuichiro

AU - Kelempisioti, Anthi

AU - Nakajima, Masahiro

AU - Miyake, Atsushi

AU - Furuichi, Tatsuya

AU - Kawaguchi, Yoshiharu

AU - Mikami, Yasuo

AU - Chiba, Kazuhiro

AU - Kamata, Michihiro

AU - Ozaki, Kouichi

AU - Takahashi, Atsushi

AU - Mäkelä, Pirkka

AU - Karppinen, Jaro

AU - Kimura, Tomoatsu

AU - Kubo, Toshikazu

AU - Toyama, Yoshiaki

AU - Yamamura, Ken Ichi

AU - Männikkö, Minna

AU - Mizuta, Hiroshi

AU - Ikegawa, Shiro

PY - 2009

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