A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine

Taizo Horikoshi, Koichi Maeda, Yoshiharu Kawaguchi, Kazuhiro Chiba, Kanji Mori, Yu Koshizuka, Shigeru Hirabayashi, Kazuhito Sugimori, Morio Matsumoto, Hiroshi Kawaguchi, Makoto Takahashi, Hisashi Inoue, Tomoatsu Kimura, Yoshitaka Matsusue, Itsuro Inoue, Hisatoshi Baba, Kozo Nakamura, Shiro Ikegawa

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Abstract

Research to date has identified several genes that are implicated in the etiology of ossification of the posterior longitudinal ligament of the spine (OPLL); however, their pathogenetic relevance remains obscure. The aim of this study is to identify susceptibility genes for OPLL through a large-scale case-control association study and to re-examine previously reported associations. A total of 109 single nucleotide polymorphisms (SNPs) in 35 candidate genes were genotyped for 711 sporadic OPLL patients and 896 controls. The differences in allelic and genotypic distribution between patients and controls were assessed using the χ2 test with Bonferroni's correction. We also analyzed the association by separating patients into subgroups according to sex, age and the number of ossified vertebrae. The nominal P values fell below 0.05 for five SNPs in three genes. An intronic SNP in the TGF3 gene (P = 0.00040) showed the most significant association. Previously reported associations of COL11A2, NPPS and TGFB1 with OPLL could not be reproduced. Further, no significant associations were detected in stratified analyses based on sex, age or the number of ossified vertebrae. TGFB3 warrants further investigation because it is located within a genomic region that has been positively linked with OPLL.

Original languageEnglish
Pages (from-to)611-616
Number of pages6
JournalHuman genetics
Volume119
Issue number6
DOIs
Publication statusPublished - 2006 Jul

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Horikoshi, T., Maeda, K., Kawaguchi, Y., Chiba, K., Mori, K., Koshizuka, Y., Hirabayashi, S., Sugimori, K., Matsumoto, M., Kawaguchi, H., Takahashi, M., Inoue, H., Kimura, T., Matsusue, Y., Inoue, I., Baba, H., Nakamura, K., & Ikegawa, S. (2006). A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. Human genetics, 119(6), 611-616. https://doi.org/10.1007/s00439-006-0170-9