open access

Vol 48, No 1 (2014)
Review article
Submitted: 2012-10-17
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The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease

Łukasz Janeczko, Magdalena Janeczko, Robert Chrzanowski, Grzegorz Zieliński
DOI: 10.1016/j.pjnns.2013.04.001
·
Neurol Neurochir Pol 2014;48(1):60-62.

open access

Vol 48, No 1 (2014)
Review article
Submitted: 2012-10-17

Abstract

The intervertebral disc disease (IDD) is one of the most common musculoskeletal disorders. A number of environment and anthropometric risk factors may contribute to it. The recent reports have suggested the importance of genetic factors, especially these which encode collagen types IX and XI. The allelic variants in the collagen IX genes – COL9A2 (Trp2) and COL9A3 (Trp3) have been identified as genetic risk factors for IDD, because they interfere the cross-linking between collagen types II, IX and XI and result in decreased stability of intervertebral discs. Type XI collagen is a minor component of cartilage collagen fibrils, but it is present in the annulus fibrosus and nucleus pulposus of intervertebral discs. Some studies have shown the association between gene COL11A1 polymorphism c.4603C>T and IDD. The frequency of 4603T allele was significantly higher in the patients with IDD than in the healthy controls.

Abstract

The intervertebral disc disease (IDD) is one of the most common musculoskeletal disorders. A number of environment and anthropometric risk factors may contribute to it. The recent reports have suggested the importance of genetic factors, especially these which encode collagen types IX and XI. The allelic variants in the collagen IX genes – COL9A2 (Trp2) and COL9A3 (Trp3) have been identified as genetic risk factors for IDD, because they interfere the cross-linking between collagen types II, IX and XI and result in decreased stability of intervertebral discs. Type XI collagen is a minor component of cartilage collagen fibrils, but it is present in the annulus fibrosus and nucleus pulposus of intervertebral discs. Some studies have shown the association between gene COL11A1 polymorphism c.4603C>T and IDD. The frequency of 4603T allele was significantly higher in the patients with IDD than in the healthy controls.

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Keywords

Intervertebral disc disease, Gene polymorphism, COL9A2, COL9A3, COL11A1

About this article
Title

The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 48, No 1 (2014)

Pages

60-62

DOI

10.1016/j.pjnns.2013.04.001

Bibliographic record

Neurol Neurochir Pol 2014;48(1):60-62.

Keywords

Intervertebral disc disease
Gene polymorphism
COL9A2
COL9A3
COL11A1

Authors

Łukasz Janeczko
Magdalena Janeczko
Robert Chrzanowski
Grzegorz Zieliński

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