Association of the asporin D14 allele with lumbar-disc degeneration in Asians.

Song, You-Qiang; Cheung, Kenneth M C; Ho, Daniel W H; Poon, Sandy C S; Chiba, Kazuhiro; Kawaguchi, Yoshiharu; Hirose, Yuichiro; Alini, Mauro et al. · Am J Hum Genet · 2008

case_control · Level III

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Abstract

Lumbar-disc degeneration (LDD) is a polygenic disease. Susceptibility genes reported so far are mainly extracellular matrix proteins. D14 allele of asporin (ASPN) is associated with osteoarthritis (OA). Candidate-gene association studies showed that the D14 allele is also significantly associated with LDD in Chinese and Japanese individuals. Meta-analysis showed that individuals harboring a D14 allele had higher risk with a summary odds ratio of 1.70 (p = 0.000013). ASPN expression in vertebral discs increased with age and degeneration. Our results indicate ASPN is a LDD gene in Asians, and common risk factors may be considered for OA and LDD.

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