title: The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.
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.
authors.affiliation: Neurosurgery Ward of St. Rafael Hospital, Krakow, Poland. Electronic address: soarer@o2.pl.
authors.forename: Łukasz
authors.initials: Ł
authors.lastname: Janeczko
authors.affiliation: Department of Genetics, Polish-American Institute of Pediatrics, Krakow, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Janeczko
authors.affiliation: Neurosurgery Ward of St. Rafael Hospital, Krakow, Poland.
authors.forename: Robert
authors.initials: R
authors.lastname: Chrzanowski
authors.affiliation: Department of Neurosugery, Military Hospital, Warsaw, Poland.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Zieliński
mesh_terms: D024081:Collagen Type IX / Q000235:genetics*; D024161:Collagen Type XI / Q000235:genetics*; D006801:Humans; D055959:Intervertebral Disc Degeneration / Q000235:genetics*; D007405:Intervertebral Disc Displacement / Q000235:genetics*; D008161:Lumbosacral Region; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: C574182:COL11A1 protein, human; C120282:COL9A2 protein, human; C120768:COL9A3 protein, human; D024081:Collagen Type IX; D024161:Collagen Type XI
keywords: COL11A1; COL9A2; COL9A3; Gene polymorphism; Intervertebral disc disease