A functional polymorphism in COL11A1, which encodes the α1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation

Futoshi Mio, Kazuhiro Chiba, Yuichiro Hirose, Yoshiharu Kawaguchi, Yasuo Mikami, Takeshi Oya, Masaki Mori, Michihiro Kamata, Morio Matsumoto, Kouichi Ozaki, Toshihiro Tanaka, Atsushi Takahashi, Toshikazu Kubo, Tomoatsu Kimura, Yoshiaki Toyama, Shiro Ikegawa

Research output: Contribution to journalArticle

104 Citations (Scopus)

Abstract

Lumbar disc herniation (LDH), degeneration and herniation of the nucleus pulposus of the intervertebral disc (IVD) of the lumbar spine, is one of the most common musculoskeletal diseases. Its etiology and pathogenesis, however, remain unclear. Type XI collagen is important for cartilage collagen formation and for organization of the extracellular matrix. We identified an association between one of the type XI collagen genes, COL11A1, and LDH in Japanese populations. COL11A1, which encodes the a1 chain of type XI collagen, was highly expressed in IVD, but its expression was decreased in the IVD of patients with LDH. The expression level was inversely correlated with the severity of disc degeneration. A single-nucleotide polymorphism (c.4603C→T [rs1676486]) had the most significant association with LDH (P = 3.3 × 10-6), and the transcript containing the disease-associated allele was decreased because of its decreased stability. These observations indicate that type XI collagen is critical for IVD metabolism and that its decrease is related to LDH.

Original languageEnglish
Pages (from-to)1271-1277
Number of pages7
JournalAmerican Journal of Human Genetics
Volume81
Issue number6
DOIs
Publication statusPublished - 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A functional polymorphism in COL11A1, which encodes the α1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation'. Together they form a unique fingerprint.

  • Cite this

    Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., & Ikegawa, S. (2007). A functional polymorphism in COL11A1, which encodes the α1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. American Journal of Human Genetics, 81(6), 1271-1277. https://doi.org/10.1086/522377