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Objective: To determine whether the matrix metalloproteinase 9 gene (MMP9) polymorphism is associated with the onset or progression of adolescent idiopathic scoliosis (AIS) in Chinese Han female., Methods: Three single nucleotide polymorphisms (SNPs) (rs17576, rs2250889, rs1805088) were genotyped through TaqMan-based real-time PCR assay in 190 AIS patients and 190 controls, all of whom were females from Chinese Han population with matched age. Analyses performed included Hardy Weinberg equilibrium test, Pearson chi-square test, Logistic regression analysis, linkage disequilibrium analysis and haplotype analysis. The mean maximum Cobb angles with different genotypes in case-only dataset were also compared., Results: All 3 SNPs have reached Hardy-Weinberg equilibrium in the controls. Genotype and allele frequencies of all SNPs were found similar between cases and controls by Pearson chi-square test and Logistic regression. Genotype-phenotype analysis showed that patients with CC genotype in rs2250889 featured larger maximum Cobb angles., Conclusion: MMP9 may not be a predisposition gene of AIS in Han female. However, homozygous mutation in rs2250889 can render scoliosis more severe, implying that MMP9 defect may result in deterioration of AIS.

This study was to explore the relationships between (-511)T>C and (+3954)C>T single nucleotide polymorphisms(SNP) in IL-1beta gene with lumbar intervertebral disc disease. We analyzed (-511)T>C and (+3954)C>T SNP in IL-1beta gene by the polymerase chain reaction-restriction fragment length polymorphism and electrophoresis methods respectively in 81 cases with lumbar disc disease and 101 healthy controls. The relationship between (-511)T>C and (+3954)C>T SNP in IL-1beta gene and lumbar disc disease in two groups was measured, so does the relationship between (-511)T>C and (+3954)C>T SNP in IL-1beta gene and intervertebral disc degeneration in those younger than 45-year-old. The results showed there were (-511)T>C and (+3954)C>T SNP in IL-1beta gene. There was a significant difference in the distribution of TT, TC and CC genotype or T, C genotype of (-511)T>C of IL-1beta in two groups. And there was no significant difference in the distribution of (+3954)C>T SNP in IL-1beta gene in two groups. There was no significant difference between the distribution of (-511)T>C and (+3954)C>T SNP in IL-1beta gene and intervertebral disc degeneration in those younger than 45-year-old. It suggested (-511)T>C SNP in IL-1beta gene be one of the susceptible alleles for Lumbar disc disease.