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

Content Provider	Springer Nature Link
Author	Horikoshi, Taizo Maeda, Koichi Kawaguchi, Yoshiharu Chiba, Kazuhiro Mori, Kanji Koshizuka, Yu Hirabayashi, Shigeru Sugimori, Kazuhito Matsumoto, Morio Kawaguchi, Hiroshi Takahashi, Makoto Iue, Hisashi Kimura, Tomoatsu Matsusue, Yoshitaka Iue, Itsuro Baba, Hisatoshi Nakamura, Kozo Ikegawa, Shiro
Copyright Year	2006
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.
Starting Page	611
Ending Page	616
Page Count	6
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	119
Issue Number	6
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2006-04-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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