Journal
JOURNAL OF BONE AND MINERAL RESEARCH
Volume 24, Issue 9, Pages 1537-1543Publisher
WILEY
DOI: 10.1359/JBMR.090314
Keywords
lumbar disc herniation; KIAA1217; SKT; intervertebral disc; meta-analysis
Categories
Funding
- Ministry of Education, Culture, Sports, and Science of Japan [19209049]
- Academy of Finland
- Grants-in-Aid for Scientific Research [19209049] Funding Source: KAKEN
Ask authors/readers for more resources
Lumbar disc herniation (LDH) is one of the most common musculo-skeletal diseases. Recent studies have indicated that LDH has strong genetic determinants, and several susceptibility genes have been reported to associate with LDH; however, its etiology and pathogenesis still remain unclear. KIAA1217 (alias SKT, the human homolog of murine Skt [Sickle tail]) is a good candidate for an LDH susceptibility gene because SKT is specifically expressed in nucleus pulposa of intervertebral discs (IVDs) in humans and mice, and Skt(Gt) mice, which are established through a large-scale gene-trap mutagenesis, exhibit progressive, postnatal onset abnormality of the IVDs. Here, we report the association of SKT with LDH. Using tag SNPs, we examined the association in two independent Japanese case-control populations and found a significant association with SKT rs16924573 in the allele frequency model (p=0.0015). The association was replicated in a Finnish case-control population (p = 0.026). The combined p value of the two population by meta-analysis is 0.00040 (OR, 1.34; 95% CI, 1.14-1.58). Our data indicate that SKT is involved in the etiology of LDH. J Bone Miner Res 2009;24:1537-1543. Published online on March 30, 2009; doi: 10.1359/JBMR.090314
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available