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Article

A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.

American journal of human genetics - 1 May 2008

Hirose Yuichiro, Chiba Kazuhiro, Karasugi Tatsuki, Nakajima Masahiro, Kawaguchi Yoshiharu, Mikami Yasuo, Furuichi Tatsuya, Mio Futoshi, Miyake Atsushi, Miyamoto Takeshi, Ozaki Kouichi, Takahashi Atsushi, Mizuta Hiroshi, Kubo Toshikazu, Kimura Tomoatsu, Tanaka Toshihiro, Toyama Yoshiaki, Ikegawa Shiro

Abstract excerpt

Lumbar-disc herniation (LDH), one of the most common musculoskeletal diseases, has strong genetic determinants. Recently, several genes that encode extracellular matrix (ECM) proteins in the intervertebral disc have been reported to associate with LDH. Thrombospondins (THBSs) 1 and 2 are good candidates for the LDH susceptibility gene: They are intervertebral disc ECM proteins that regulate the effective levels...

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Source

Open in PubMed Open full text

Identifiers

PMID: 18455130
DOI: 10.1016/j.ajhg.2008.03.013
PMCID: PMC2427305

Genes

THBS2
MMP9
MMP2

Variants

rs17576

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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