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

被引:123
作者
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
机构
[1] RIKEN, SNP Res Ctr, Lab Bone & Joinr Dis, Minato Ku, Tokyo 1088639, Japan
[2] Keio Univ, Sch Med, Dept Orthopaed Surg, Tokyo, Japan
[3] Keio Univ, Sch Med, Dept Musculoskeletal Reconstruct & Regenerat Surg, Tokyo, Japan
[4] Toyama Univ, Fac Med, Dept Orthopaed Surg, Toyama 930, Japan
[5] Toyama Univ, Fac Med, Dept Pathol, Toyama 930, Japan
[6] Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Orthopaed, Kyoto, Japan
[7] Keiyu Hosp, Dept Orthopaed, Yokohama, Kanagawa, Japan
关键词
D O I
10.1086/522377
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 alpha 1 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 x 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.
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收藏
页码:1271 / 1277
页数:7
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