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
Affiliations
  • 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.