Details

Autor(en) / Beteiligte

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

Titel

A Functional Polymorphism in COL11A1, Which Encodes the ¿1 Chain of Type Xl Collagen, Is Associated with Susceptibility to Lumbar Disc Herniation

Ist Teil von

• American journal of human genetics, 2007-12, Vol.81 (6), p.1271

Ort / Verlag

Chicago: Cell Press

Erscheinungsjahr

2007

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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 α1 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[arrow right]T [rs1676486]) had the most significant association with LDH (P = 3.3 x 10^sup -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. [PUBLICATION ABSTRACT]