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. 2016 Nov;32(11):552-558.
doi: 10.1016/j.kjms.2016.08.010. Epub 2016 Oct 14.

Associations of Caspase-3 gene polymorphism with lumbar disc herniation

Yi Fang  1 , Jun Qiu  2 , Zong-Bin Jiang  3 , Sheng-Rong Xu  4 , Zeng-Hua Zhou  4 , Rui-Lin He  4
Affiliations

Associations of Caspase-3 gene polymorphism with lumbar disc herniation

Yi Fang et al. Kaohsiung J Med Sci. 2016 Nov.

Abstract

To investigate Caspase-3 gene polymorphisms (rs4647693 G/A, rs4647610 A/G, and rs12108497 T/C) and susceptibility to lumbar intervertebral disc herniation (LDH). The genotype frequency distributions of the polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism in 107 LDH patients (case group) and 121 healthy individuals (control group). SHEsis software was used to conduct gene linkage disequilibrium and haplotype analysis. Regression analysis was used to analyze possible risk factors for LDH. Statistically significant differences in family history of LDH, amateur sports, leisure activities, bed types, and spine load grade were found between the case and control groups. The distribution of allele and genotype frequencies of rs4647693 G/A, rs4647610 A/G, and rs12108497 T/C polymorphisms of Caspase-3 were significantly different between the case and control groups. Haplotype analysis showed that the G-G-C (rs4647693-rs4647610-rs12108497) haplotype might be a risk factor for LDH, whereas the A-A-T haplotype might be a protective factor (p < 0.05). Binary logistic regression analysis showed that the GA+AA genotype of rs4647693 was negatively associated with the risk of LDH, whereas high spine load grade was positively associated with the risk of LDH. These findings revealed that rs4647693 G/A, rs4647610 A/G, and rs12108497 T/C polymorphisms of Caspase-3 may be associated with susceptibility to LDH and that interaction and modification effects may exist between Caspase-3 polymorphisms.

Keywords: Caspase-3; Haplotypes analysis; Lumbar intervertebral disc herniation; Polymorphism; Susceptibility.

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