open access
The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease
Affiliations- Neurosurgery Ward of St. Rafael Hospital, Krakow, Poland
- Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
- Department of Neurosugery, Military Hospital, Warsaw, Poland
open access
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.
Keywords
Intervertebral disc disease, Gene polymorphism, COL9A2, COL9A3, COL11A1
About this articleTitle
The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Review Article
Pages
60-62
Page views
447
Article views/downloads
436
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
