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

92 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

Fingerprint

Collagen Type XI
Intervertebral Disc
Intervertebral Disc Degeneration
Musculoskeletal Diseases
Single Nucleotide Polymorphism
Extracellular Matrix
Spine
Alleles
Population
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

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

In: American Journal of Human Genetics, Vol. 81, No. 6, 2007, p. 1271-1277.

Research output: Contribution to journalArticle

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, vol. 81, no. 6, pp. 1271-1277. https://doi.org/10.1086/522377
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. / A functional polymorphism in COL11A1, which encodes the α1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. In: American Journal of Human Genetics. 2007 ; Vol. 81, No. 6. pp. 1271-1277.
@article{b0a42f775407418eb6113658580e78b3,
title = "A functional polymorphism in COL11A1, which encodes the α1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation",
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.",
author = "Futoshi Mio and Kazuhiro Chiba and Yuichiro Hirose and Yoshiharu Kawaguchi and Yasuo Mikami and Takeshi Oya and Masaki Mori and Michihiro Kamata and Morio Matsumoto and Kouichi Ozaki and Toshihiro Tanaka and Atsushi Takahashi and Toshikazu Kubo and Tomoatsu Kimura and Yoshiaki Toyama and Shiro Ikegawa",
year = "2007",
doi = "10.1086/522377",
language = "English",
volume = "81",
pages = "1271--1277",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",

}

TY - JOUR

T1 - A functional polymorphism in COL11A1, which encodes the α1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation

AU - Mio, Futoshi

AU - Chiba, Kazuhiro

AU - Hirose, Yuichiro

AU - Kawaguchi, Yoshiharu

AU - Mikami, Yasuo

AU - Oya, Takeshi

AU - Mori, Masaki

AU - Kamata, Michihiro

AU - Matsumoto, Morio

AU - Ozaki, Kouichi

AU - Tanaka, Toshihiro

AU - Takahashi, Atsushi

AU - Kubo, Toshikazu

AU - Kimura, Tomoatsu

AU - Toyama, Yoshiaki

AU - Ikegawa, Shiro

PY - 2007

Y1 - 2007

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=36749073462&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=36749073462&partnerID=8YFLogxK

U2 - 10.1086/522377

DO - 10.1086/522377

M3 - Article

VL - 81

SP - 1271

EP - 1277

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -