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

• Published in: Journal of molecular neuroscience Vol. 66; no. 3; pp. 378 - 382
• Main Authors: S M, Harshitha, M K, Sibin, G K, Chetan, I Bhat, Dhananjaya
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-11-2018; Springer Nature B.V
• Subjects: Adolescent; Adult; Aged; Aggrecan; Biomedical and Life Sciences; Biomedicine; Cartilage; Cell Biology; Collagen; Collagen (type IX); Collagen Type IX - genetics; Degeneration; Environmental factors; Extracellular Matrix Proteins - genetics; Female; Gene polymorphism; Genes; Genotype & phenotype; Genotyping; Humans; India; Inflammation; Intervertebral Disc Degeneration - genetics; Intervertebral discs; Lumbar Vertebrae - pathology; Male; Matrix metalloproteinase; Matrix Metalloproteinase 3 - genetics; Matrix metalloproteinases; Metalloproteinase; Middle Aged; Neurochemistry; Neurology; Neurosciences; Polymorphism; Polymorphism, Single Nucleotide; Proteins; Proteomics; Pyrophosphatases - genetics; Risk; Single-nucleotide polymorphism; Stromelysin 1; India; Lumbar disc degeneration (LDD); Indian population; Polymorphism; COL9A2; CILP; MMP3
• ISSN: 0895-8696; 1559-1166
• DOI: 10.1007/s12031-018-1182-3

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.