基质金属蛋白酶9基因多态性与汉族女性青少年特发性脊柱侧凸的关联分析  

Association of matrix metalloproteinase 9 polymorphisms with adolescent idiopathic scoliosis in Chinese Han female

作　　者：黄东生[1] 梁国彦[1] 苏培强[2] 

机构地区：[1]中山大学孙逸仙纪念医院骨科,广州510080 [2]中山大学附属第一医院骨科,广州510080

出　　处：《中华医学遗传学杂志》2011年第5期532-535,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30700456）

摘　　要：目的探讨基质金属蛋白酶9（matrix metalloproteinase 9，MMP9）基因多态性与汉族女性青少年特发性脊柱侧凸（adolescent idiopathic scoliosis，AIS）发生和发展的关系。方法以rs17576、rs2250889、rs18050883个标签单核苷酸多态性（single nucleotide polymorphisms，SNPs）作为遗传标记，通过TaqMan荧光探针法对190例AIS患者和190名年龄匹配汉族女性正常对照进行等位基冈分型。对结果进行Hardy—Weinberg遗传平衡检验、Pearsonχ2检验、非条件Logistic回归分析、连锁不平衡检验和单倍型分析，并分析基冈型与表型的关系。结果正常对照组rsl7576、rs2250889、rsl8050883个位点基因型分布符合Hardy Weinberg平衡（P〉0．05）；基因型表型分析发现rs2250889位点基闪型为CC的患者的最大Cobb角（48．50°）大于基冈型为GG（25．98°）或GC（28．35°）者（P〈0．05），其侧凸程度较严重。结论目前尚不能认为MMP9基冈是汉族女性AIS的易感基因，但rs2250889纯合变异者脊柱侧凸较严重，提示MMP9异常可导致脊柱侧凸的进展。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 2 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 χ2 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 defecl may result in deterioration of AIS.

关 键 词：脊柱侧凸 青少年 基质金属蛋白酶9 关联分析 

分 类 号：R682.3[医药卫生—骨科学]