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

Am J Hum Genet. 2008 Mar;82(3):744-7. doi: 10.1016/j.ajhg.2007.12.017.

You-Qiang Song ¹, Kenneth M C Cheung, Daniel W H Ho, Sandy C S Poon, Kazuhiro Chiba, Yoshiharu Kawaguchi, Yuichiro Hirose, Mauro Alini, Sibylle Grad, Anita F Y Yee, John C Y Leong, Keith D K Luk, Shea-Ping Yip, Jaro Karppinen, Kathryn S E Cheah, Pak Sham, Shiro Ikegawa, Danny Chan

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Affiliation

1 Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, China.

PMID: 18304494 DOI: 10.1016/j.ajhg.2007.12.017

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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