Journal of Molecular Neuroscience

, Volume 66, Issue 3, pp 378–382 | Cite as

Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population

  • Harshitha S.M.
  • Sibin M.K.
  • Chetan G.K.
  • Dhananjaya I. BhatEmail author


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.


Lumbar 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.

Supplementary material

12031_2018_1182_MOESM1_ESM.docx (21 kb)
ESM 1 (DOCX 21 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Human GeneticsNational Institute of Mental Health and Neurosciences (NIMHANS)BangaloreIndia
  2. 2.Armed Forces Medical CollegePuneIndia
  3. 3.Department of NeurosurgeryNational Institute of Mental Health and Neurosciences (NIMHANS)BangaloreIndia

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