中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
5期
532-535
,共4页
脊柱侧凸%青少年%基质金属蛋白酶9%关联分析
脊柱側凸%青少年%基質金屬蛋白酶9%關聯分析
척주측철%청소년%기질금속단백매9%관련분석
scoliosis%adolescent%matrix metalloproteinase 9%association study
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、rs1805088 3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因分型.对结果进行Hardy-Weinberg遗传平衡检验、Pearson x2检验、非条件Logistic回归分析、连锁不平衡检验和单倍型分析,并分析基因型与表型的关系.结果 正常对照组rs17576、rs2250889、rs1805088 3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位点基因型为CC的患者的最大Cobb角(48.50°)大于基因型为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基因是汉族女性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.
目的 探討基質金屬蛋白酶9 (matrix metalloproteinase 9,MMP9)基因多態性與漢族女性青少年特髮性脊柱側凸(adolescent idiopathic scoliosis,AIS)髮生和髮展的關繫.方法 以rs17576、rs2250889、rs1805088 3箇標籤單覈苷痠多態性(single nucleotide polymorphisms,SNPs)作為遺傳標記,通過TaqMan熒光探針法對190例AIS患者和190名年齡匹配漢族女性正常對照進行等位基因分型.對結果進行Hardy-Weinberg遺傳平衡檢驗、Pearson x2檢驗、非條件Logistic迴歸分析、連鎖不平衡檢驗和單倍型分析,併分析基因型與錶型的關繫.結果 正常對照組rs17576、rs2250889、rs1805088 3箇位點基因型分佈符閤Hardy-Weinberg平衡(P＞0.05)；基因型-錶型分析髮現rs2250889位點基因型為CC的患者的最大Cobb角(48.50°)大于基因型為GG(25.98°)或GC(28.35°)者(P＜0.05),其側凸程度較嚴重.結論 目前尚不能認為MMP9基因是漢族女性AIS的易感基因,但rs2250889純閤變異者脊柱側凸較嚴重,提示MMP9異常可導緻脊柱側凸的進展.
목적 탐토기질금속단백매9 (matrix metalloproteinase 9,MMP9)기인다태성여한족녀성청소년특발성척주측철(adolescent idiopathic scoliosis,AIS)발생화발전적관계.방법 이rs17576、rs2250889、rs1805088 3개표첨단핵감산다태성(single nucleotide polymorphisms,SNPs)작위유전표기,통과TaqMan형광탐침법대190례AIS환자화190명년령필배한족녀성정상대조진행등위기인분형.대결과진행Hardy-Weinberg유전평형검험、Pearson x2검험、비조건Logistic회귀분석、련쇄불평형검험화단배형분석,병분석기인형여표형적관계.결과 정상대조조rs17576、rs2250889、rs1805088 3개위점기인형분포부합Hardy-Weinberg평형(P＞0.05)；기인형-표형분석발현rs2250889위점기인형위CC적환자적최대Cobb각(48.50°)대우기인형위GG(25.98°)혹GC(28.35°)자(P＜0.05),기측철정도교엄중.결론 목전상불능인위MMP9기인시한족녀성AIS적역감기인,단rs2250889순합변이자척주측철교엄중,제시MMP9이상가도치척주측철적진전.
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 x2 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 x2 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.
