Objective: To detect the single nucleotide polymorphisms (SNPs) in exon 6 of tissue inhibitor of metalloproteinase-1 (TIMP-1) in young men in North China and to investigate the relationship between these polymorphisms and lumbar intervertebral disc degeneration.
Methods: The recruited subjects aged from 18 to 40 years old were divided by MRI into degeneration group (n = 48) and non-degeneration group (n = 49). The genomic DNA was collected from blood. After PCR amplification, the SNPs of TIMP-1 exon 6 were detected by DNA sequencing.
Results: Only the TIMP-1 666C > T (rs11551797) polymorphism was observed and the genotype was of homozygote (CC/TT). The difference between two group was statistically significant (χ(2) = 4.571, P = 0.033). Although the polymorphism was a synonymous mutation, the TT genotype mutant type was one of the risk factors for lumbar intervertebral disc degeneration (OR = 3.269, 95%CI 1.063 - 10.047). In the degeneration group, no significant correlation was found between the polymorphism, extent, level and number of degenerated intervertebral discs.
Conclusion: TIMP-1 666C > T polymorphism present in north Chinese young men may lead to lumbar intervertebral disc degeneration. However it has no effect on the degree, level and number of degenerated intervertebral discs.