Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population
Lumbar disc degeneration (LDD) is a multifactorial disorder caused by genetic and environmental factors. Polymorphisms in several structural and inflammatory genes like collagens, aggrecan, matrix metalloproteinases are associated with the risk of disc degeneration. In this study, we analyzed the role of a few important single nucleotide polymorphisms in cartilage intermediate layer protein (CILP), collagen 9A2 (COL9A2) and matrix metalloproteinase 3 (MMP3) genes in LDD from an Indian population. Two hundred patients with LDD and 200 healthy controls were recruited for the study. Genotyping was performed by allelic discrimination assay. The rs2073711 polymorphism (CILP gene - GG genotype) was associated with reduced risk of LDD in the Indian population (OR = 0.43, p = 0.016). The rs591058 polymorphism (MMP3 gene - TT genotype) is found to be associated with lower risk among women (OR = 0.34, p = 0.041). No significant association was found between COL9A2 polymorphism rs7533552 and the risk of LDD. We conclude that the CILP gene polymorphism (rs2073711) is associated with a lower risk of LDD, the MMP3 (rs591058) gene polymorphism is associated with LDD among women, and the TT genotype confers a lower risk of LDD.
KeywordsLumbar disc degeneration (LDD) CILP MMP3 COL9A2 Polymorphism Indian population
This study was financially supported by Science and Engineering Research Board (SERB) (EMR/2014/000614), Department of Science and Technology, Government of India.
Compliance with Ethical Standards
Conflict of Interest
The authors have declared that there is no conflict of interest financially or findings specified in this paper.
- Bagheri MH, Honarpisheh AP, Yavarian M, Alavi Z, Siegelman J, Valtchinov VI (2016) MRI phenotyping of COL9A2/Trp2 and COL9A3/Trp3 alleles in lumbar disc disease: a case-control study in south-western Iranian population reveals a significant Trp3-disease association in males. Spine 41:1661–1667CrossRefGoogle Scholar
- Näkki A, Videman T, Kujala UM, Suhonen M, Männikkö M, Peltonen L, Battié MC, Kaprio J, Saarela J (2010) Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration. J Rheumatol. https://doi.org/10.3899/jrheum.100080 CrossRefGoogle Scholar
- Rajasekaran S, Kanna RM, Senthil N, Raveendran M, Cheung KM, Chan D, Subramaniam S, Shetty AP (2013) Phenotype variations affect genetic association studies of degenerative disc disease: conclusions of analysis of genetic association of 58 single nucleotide polymorphisms with highly specific phenotypes for disc degeneration in 332 subjects. Spine J 13(10):1309–1320CrossRefGoogle Scholar