Article
A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.
Nature genetics - 1 Jun 2005
Seki Shoji, Kawaguchi Yoshiharu, Chiba Kazuhiro, Mikami Yasuo, Kizawa Hideki, Oya Takeshi, Mio Futoshi, Mori Masaki, Miyamoto Yoshinari, Masuda Ikuko, Tsunoda Tatsuhiko, Kamata Michihiro, Kubo Toshikazu, Toyama Yoshiaki, Kimura Tomoatsu, Nakamura Yusuke, Ikegawa Shiro
Abstract excerpt
Lumbar disc disease (LDD) is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, LDD has strong genetic determinants. Using a case-control association study, we identified a functional SNP (1184T --> C, resulting in the amino acid...
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