Association of matrix metalloproteinase 9 polymorphisms with adolescent idiopathic scoliosis in Chinese Han female / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>