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A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2007 Dec; Vol. 81 (6), pp. 1271-7. Date of Electronic Publication: 2007 Oct 16. - Publication Year :
- 2007
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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 alpha 1 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 x 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.
- Subjects :
- Adolescent
Adult
Aged
Autistic Disorder genetics
Female
Genetic Predisposition to Disease
Humans
Japan
Male
Middle Aged
Oligonucleotide Array Sequence Analysis
Reference Values
Transcription, Genetic
Collagen Type XI genetics
Intervertebral Disc Displacement genetics
Lumbar Vertebrae
Polymorphism, Single Nucleotide
Subjects
Details
- Language :
- English
- ISSN :
- 1537-6605
- Volume :
- 81
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 17999364
- Full Text :
- https://doi.org/10.1086/522377