A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine |
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Authors: | 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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Institution: | (1) Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan;(2) Department of Orthopaedics, Juntendo University School of Medicine, Tokyo, Japan;(3) Department of Orthopaedic Surgery, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan;(4) Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan;(5) Department of Orthopaedic Surgery, Shiga University of Medical Science, Otsu, Japan;(6) Department of Orthopaedic Surgery, The University of Tokyo, Tokyo, Japan;(7) Department of Orthopedic Surgery, Saitama Medical Center, Saitama Medical School, Kawagoe, Japan;(8) Department of Orthopaedic and Spinal Surgery, Tokyo Medical and Dental University, Tokyo, Japan;(9) Division of Genetic Diagnosis, The Institute of Medical Science, University of Tokyo, Tokyo, Japan;(10) Department of Orthopaedics and Rehabilitation Medicine, Fukui University School of Medicine, Fukui, Japan |
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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 χ
2 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.Electronic Supplementary Material Supplementary material is available for this article at and is accessible for authorized users.Taizo Horikoshi and Koichi Maeda contributed equally to this work. |
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