TIMP-1 666C＞T单核苷酸多态性与腰椎间盘退变相关性分析

目的 探讨基质金属蛋白酶抑制物-1(TIMP-1)666C＞T单核苷酸多态性与腰椎间盘退变的关系.方法 青年男性,经MRI筛选分为退变组(48例)与非退变组(49例),提取全血基因组DNA,对TIMP-1第6外显子进行扩增并测序,发现并验证单核苷酸多态性的存在,并分析其与腰椎间盘退变的关系.结果 在测序结果中发现仅存在TIMP-1 666C＞T(rs11551797)多态性,且基因型均为纯合子.TIMP-1 666C＞T多态性在退变组与非退变组中相比存在统计学差异(x2=4.571,P=0.033),TT型(突变型)为腰椎间盘退变的危险因素(OR=3.269,95% CI 1.063～10.047).而对退变组分析,TIMP-1 666C＞T多态性与退变程度、退变节段位置及退变节段数量无明显相关性.结论 青年男性TIMP-1存在666C＞T单核苷酸多态性,腰椎间盘退变可能与其相关,而此基因多态性并不影响椎间盘退变发生的程度、位置及数量.

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

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 intervertebal 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(x2= 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 intervertebal 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 intervertebal discs. Conclusion TIMP-1 666C ＞ T polymorphism present in north Chinese young men may lead to lumbar intevertebal disc degeneration. However it has no effect on the degree, level and number of degenerated intervertebal discs.