Dataset Information

A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.

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.

SUBMITTER: Mio F

PROVIDER: S-EPMC2276353 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.

Mio Futoshi F Chiba Kazuhiro K Hirose Yuichiro Y Kawaguchi Yoshiharu Y Mikami Yasuo Y Oya Takeshi T Mori Masaki M Kamata Michihiro M Matsumoto Morio M Ozaki Kouichi K Tanaka Toshihiro T Takahashi Atsushi A Kubo Toshikazu T Kimura Tomoatsu T Toyama Yoshiaki Y Ikegawa Shiro S

American journal of human genetics 20071016 6

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 al ...[more]

PMID: 17999364

Similar Datasets

Project description:Study designSecondary analysis of data from a concurrent randomized trial and cohort study.ObjectiveThe aim of this study was to determine risks and predictors of recurrent pain following standard open discectomy for subacute/chronic symptomatic lumbar disc herniation (SLDH).Summary of background dataMost previous studies of recurrence after discectomy do not explicitly define pain resolution and recurrence, and do not account for variable durations of time at risk for recurrence.MethodsWe used survival analysis methods to examine predictors of leg pain recurrence. For individuals with initial resolution of leg pain, we defined recurrent leg pain as having leg pain, receiving lumbar epidural steroid injections, or undergoing lumbar surgery subsequent to initial leg pain resolution. We calculated cumulative risks of leg pain recurrence using Kaplan-Meier survival curves, and examined predictors of recurrence using Cox proportional hazards models. We used similar methods to examine LBP recurrence.ResultsOne- and three-year cumulative risks of leg pain recurrence were 20% and 45%, respectively. One- and three- year leg pain recurrence risks were substantially lower in participants with complete initial resolution of leg pain (17% and 41%, respectively) than in those without (27% and 54%, respectively). In multivariate analyses, complete leg pain resolution (adjusted hazard ratio [aHR] 0.69; 95% confidence interval [CI] 0.52-0.90), smoking (aHR 1.68 [95% CI 1.22-2.33]), and depression (aHR 1.74 [95% CI 1.18-2.56]) predicted leg pain recurrence. The 1- and 3-year risk of LBP recurrence was 29% and 65%, respectively. LBP recurrence risk at 3 years was substantially lower in participants with complete initial resolution of LBP than in those without, but not at 1 year.ConclusionRecurrence of leg pain and LBP is common after discectomy for SLDH. Cumulative risks of both leg pain and LBP recurrence were generally lower in participants achieving complete initial resolution of pain post-discectomy.Level of evidence2.

Dataset Information

A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.

Publications

A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets