Department of Orthopaedics, The First Affiliated Hospital of School of Medicine, Xi'an Jiaotong University, Xi'an, PR China.
Connect Tissue Res. 2011 Apr;52(2):133-8. doi: 10.3109/03008207.2010.487621. Epub 2010 Nov 22.
Caspase-9 (CASP-9) is an initiator caspase protease for apoptosis, and plays an important role in the development and progression of lumbar disc disease (LDD). The expression and/or activity of CASP-9 are significantly enhanced in the degenerated disc. The polymorphism in the promoter region of CASP-9 enhances the transcriptional activity of this gene, thereby modulating the susceptibility to LDD. The current study investigated the relationship between the CASP-9 -1263A/G (rs4645978) and -712C/T (rs4645981) polymorphisms and discogenic low back pain (LBP). The CASP-9 -1263A/G and -712C/T genotypes in this study were defined by polymerase chain reaction in 154 patients with discogenic LBP and 216 controls that were frequency-matched by age, gender, and occupation. The results showed that the CASP-9 -1263 GG genotype, compared with the AA and AG genotypes [odds ratio (OR) = 1.997, 95% confidence interval (95% CI) = 1.216-3.279, p = 0.006] or the AA genotype (OR = 2.760, 95% CI = 1.464-5.203, p = 0.002), is associated with a significant increased risk of discogenic LBP, but the -712 TT or TT and CT genotypes do not contribute to discogenic LBP compared with the CC genotype (OR = 0.547, 95% CI = 0.200-1.494, p = 0.234 and OR = 0.669, 95% CI = 0.439-1.021, p = 0.062, respectively). These results indicated that the CASP-9 -1263A/G polymorphism is associated with a high risk of discogenic LBP.
Caspase-9 (CASP-9) 是凋亡的起始 Caspase 蛋白酶，在腰椎疾病 (LDD) 的发展和进展中起着重要作用。在退变的椎间盘，CASP-9 的表达和/或活性显著增强。CASP-9 启动子区域的多态性增强了该基因的转录活性，从而调节了 LDD 的易感性。本研究探讨了 CASP-9 -1263A/G(rs4645978)和-712C/T(rs4645981)多态性与椎间盘源性腰痛 (LBP) 的关系。本研究采用聚合酶链反应检测 154 例椎间盘源性 LBP 患者和 216 例年龄、性别和职业相匹配的对照组的 CASP-9 -1263A/G 和-712C/T 基因型。结果显示，与 AA 和 AG 基因型相比，CASP-9-1263 GG 基因型[比值比 (OR) = 1.997，95%置信区间 (95%CI) = 1.216-3.279，p = 0.006]或 AA 基因型 (OR = 2.760，95%CI = 1.464-5.203，p = 0.002) 与椎间盘源性 LBP 的发生显著相关，而-712 TT 或 TT 和 CT 基因型与 CC 基因型相比，并不增加椎间盘源性 LBP 的发病风险[比值比 (OR) = 0.547，95%置信区间 (95%CI) = 0.200-1.494，p = 0.234 和 OR = 0.669，95%置信区间 (95%CI) = 0.439-1.021，p = 0.062，分别]。这些结果表明，CASP-9-1263A/G 多态性与椎间盘源性 LBP 的高风险相关。
