[Relationship between 666C > T polymorphism of TIMP-1 and lumbar intervertebral disc degeneration]

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.

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.

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.

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.