Journal ArticleDOI
A genetic variant in COL11A1 is functionally associated with lumbar disc herniation in Chinese population
TLDR
It is confirmed that the rs1676486 of COL11A may be functionally associated with LDH in the Chinese population and Extracellular matrix related proteins may play an important role in the pathogenesis of LDH.Abstract:
This study aimed to explore whether the genetic variant of COL11A1 is functionally associated with the development of lumbar disc herniation (LDH) in Chinese population. SNP rs1676486 of COL11A1 was genotyped in 647 patients and 532 healthy controls. The differences of genotype and allele distributions between LDH patients and healthy controls were evaluated using the χ² test. One-way ANOVA test was used to compare the relationship between genotypes and clinical features including tissue expression of COL11A1 and the degree of disc degeneration. Patients were found to have a significantly higher frequency of TT than the controls (10.2% versus 7.3%, P = 0.004). Besides, the frequency of allele T was found to be remarkably higher in the patients than the controls (34.8% versus 28.1%, P < 0.001) with an odds ratio of 1.36 (95% confidential interval=1.14-1.63). Patients with genotype TT were found to have remarkably more severe disc degeneration (P = 0.02). Besides, the expression of COL11A1 in the lumbar disc was significantly lower in the patients with genotype TT than in those with genotype CT or CC (P < 0.001). Moreover, the expression level was inversely correlated with the severity of disc degeneration (P < 0.001). We confirmed that the rs1676486 of COL11A may be functionally associated with LDH in the Chinese population. Extracellular matrix related proteins may play an important role in the pathogenesis of LDH. Our findings shed light on a better understanding of the pathogenesis of LDH, which could be a promising target for a novel treatment modality of LDH.read more
Citations
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A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
Akira Wiberg,Akira Wiberg,Michael Ng,Annina B. Schmid,Robert Smillie,Georgios Baskozos,Michael V. Holmes,Michael V. Holmes,Kadri Künnapuu,Reedik Mägi,David L.H. Bennett,Dominic Furniss,Dominic Furniss +12 more
TL;DR: It is suggested that variants within genes implicated in growth and extracellular matrix architecture contribute to the genetic predisposition to CTS by altering the environment through which the median nerve transits.
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Collagen Type XI Alpha 1 (COL11A1): A Novel Biomarker and a Key Player in Cancer
TL;DR: The role of COL11A1 as a promising biomarker and a key player in cancer is discussed in this paper, where the authors discuss the recent discoveries in the biological functions of COL 11A1 in cancer and discuss several inhibitors that are currently being tested in clinical trials for cancer or used in clinic for other diseases.
Journal ArticleDOI
Aberrantly hydroxymethylated differentially expressed genes and the associated protein pathways in osteoarthritis.
Yang Fang,Pingping Wang,Lin Xia,Suwen Bai,Yonggang Shen,Qing Li,Yang Wang,Jinhang Zhu,Juan Du,Bing Shen +9 more
TL;DR: Comprehensive bioinformatics analysis found aberrantly hydroxymethylated differentially expressed genes and pathways in OA to determine the underlying molecular mechanisms of osteoarthritis and susceptibility-related genes for osteOarthritis inheritance.
Journal ArticleDOI
Type XI collagen–perlecan–HS interactions stabilise the pericellular matrix of annulus fibrosus cells and chondrocytes providing matrix stabilisation and homeostasis
Susan M. Smith,James Melrose +1 more
TL;DR: A model was prepared to explain the relationship between the NPP type XI collagen domain and HS chains of perlecan domain-I in the pericellular matrix of AF cells which likely contributed to cellular communication, tissue stabilization and the regulation of extracellular matrix homeostasis.
The Role of Polymorphisms in Collagen-Encoding Genes in Intervertebral Disc Degeneration.
Vera V Trefilova,Natalia Shnayder,Marina M. Petrova,Daria Sergeevna Kaskaeva,Olga. V. Tutynina,Kirill V Petrov,T. E. Popova,Olga V Balberova,German V Medvedev,R. F. Nasyrova +9 more
TL;DR: The role of genes in the development of intervertebral disc (IVD) degeneration in humans was analyzed in this paper using full-text articles published in e-Library, PubMed, Oxford Press, Clinical Case, Springer, Elsevier and Google Scholar databases.
References
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Journal ArticleDOI
The human lumbar intervertebral disc: evidence for changes in the biosynthesis and denaturation of the extracellular matrix with growth, maturation, ageing, and degeneration.
John Antoniou,Thomas Steffen,Fred Nelson,Neil Winterbottom,Anthony P. Hollander,Robin A. Poole,Max Aebi,Mauro Alini +7 more
TL;DR: Three matrix turnover phases are identified and evidence is illustrated for a lack of increased synthesis of aggrecan and type II procollagen, but also by an increase in collagen type II denaturation and type I Procollagen synthesis, both dependent on age and grade of tissue degeneration.
Journal ArticleDOI
Magnetic resonance imaging in the diagnosis of disc degeneration: correlation with discography.
Gary Schneiderman,Bonnie Flannigan,Scott Kingston,James S. Thomas,William H. Dillin,Robert G. Watkins +5 more
TL;DR: Clinically, MRI is a useful technique for detecting early disc degeneration and for assessing the affected disc level and adjacent levels in patients with low-back pain and spondylolithesis.
Journal ArticleDOI
Collagen XI Nucleates Self-assembly and Limits Lateral Growth of Cartilage Fibrils
TL;DR: Diameter control is an inherent property of appropriate mixtures of collagens II and XI and Collagen IX is not essential for this feature but strongly increases the efficiency of fibril formation, suggesting this protein may be an important stabilizing factor of cartilage fibrils.
Journal ArticleDOI
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 +15 more
TL;DR: Observations indicate that type XI collagen is critical for IVD metabolism and that its decrease is related to LDH.
Journal ArticleDOI
Quantitative analysis of transforming growth factor-beta 1 in ligamentum flavum of lumbar spinal stenosis and disc herniation.
TL;DR: The current results suggest that higher expression of TGF-&bgr;1 by fibroblasts might be related to the development of hypertrophy of the ligamentum flavum in lumbar spinal stenosis.
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