Caspase 9 gene polymorphism and susceptibility to lumbar disc disease in the Han population in northern China.
Many studies have demonstrated that apoptosis is involved in the development of disc degeneration. The initiator caspase 9 is activated through the apoptosome-driven intrinsic apoptotic pathway. The present study aimed to assess the potential association between the caspase 9 gene polymorphism and lumbar disc herniation (LDH) susceptibility, as well as severe grades of disc degeneration in the Han population in northern China. Genotyping was performed using the polymerase chain reaction and polymorphism was analyzed by restriction endonuclease cleavage in 387 patients with LDH and 412 control subjects. The allelic frequencies of caspase 9 Ex5+32 A were 0.483 and 0.391 in case patients and control subjects, respectively. Compared to those with the AA genotype, subjects with the GA/GG genotype have a higher risk to develop LDH (odds ratio 1.91; 95% confidence interval 1.29-2.81). Moreover, the GA/GG genotype was found to contribute to the risk of more severe grades of disc degeneration, as observed in magnetic resonance imaging scan. In conclusion, this study suggests that the single nucleotide polymorphism in the caspase 9 Ex5 + 32 G/A may be associated with LDH and disc degeneration in the Han population of northern China.
Department of Orthopaedics, Shaanxi Provincial People's Hospital, Xi'an, Shaanxi, China.
Zheng-Ming
ZM
Sun
Ming
M
Ling
Yuping
Y
Huo
Yanhai
Y
Chang
Yaping
Y
Li
Haixia
H
Qin
Guang
G
Yang
Rudolf
R
Lucas
D000293:Adolescent; D000328:Adult; D053453:Caspase 9 / Q000235:genetics*; D002681:China; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007405:Intervertebral Disc Displacement / Q000201:enzymology* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
C506433:CASP9 protein, human; D053453:Caspase 9