中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
3期
280-283
,共4页
赵喜娃%李琰%王娜%赵健%李秀兰%刘青%贾静辉%杨志峰%康山
趙喜娃%李琰%王娜%趙健%李秀蘭%劉青%賈靜輝%楊誌峰%康山
조희왜%리염%왕나%조건%리수란%류청%가정휘%양지봉%강산
子宫内膜异位症%子宫腺肌病%基质金属蛋白酶-2%金属蛋白酶组织抑制剂-2%遗传多态性
子宮內膜異位癥%子宮腺肌病%基質金屬蛋白酶-2%金屬蛋白酶組織抑製劑-2%遺傳多態性
자궁내막이위증%자궁선기병%기질금속단백매-2%금속단백매조직억제제-2%유전다태성
endometriosis%adenomyosis%matrix metalloproteinase-2%tissue inhibitor of metalloproteinase-2: genetic polymorphism
目的 探讨基质金属蛋白酶-2(matrix metalloproteinase-2,MMP-2)和金属蛋白酶组织抑制剂-2(tissue inhibitor of metalloproteinase-2,TIMP-2)基因启动子区单核苷酸多态性与子宫内膜异位症和子宫腺肌病发病风险的关系.方法 采用PCR-限制性片段长度多态方法检测298例子宫内膜异位症患者(内异症组)、180例子宫腺肌病患者(腺肌病组)和324名对照妇女(对照组)MMP-2和TIMP-2基因型频率的分布.结果 MMP-2-1306C/T多态的基因型和等位基因频率分布在子宫内膜异位症组与对照组间差异无统计学意义(P>0.05);但在腺肌病组和对照组间MMP-2-1306C/T多态的基因型和等位基因频率分布均有明显的差异(P<0.05);与CT+TT基因型相比,CC基因型明显增加腺肌病的发病风险,OR值为1.83(95%CI:1.13~2.96).MMP-2-735C/T多态的基因型和等位基因频率分布在3组间均未发现明显差异(P>0.05);统计学分析显示MMP-2基因的2个多态性位点间存在着连锁不平衡(D'=0.74),但4种单倍型频率在3组之间分布差异无统计学意义(P>0.05).TIMP-2-418G/C多态的等位基因频率分布在3组间差异无统计学意义(P>0.05),但CC基因型频率在子宫内膜异位症组患者中为0.7%,与对照组(3.7%)比较,差异有统计学意义(P<0.05).结论 MMP-2-1306C/T多态C等位基因的存在可明显增加腺肌病的发病风险,但与子宫内膜异位症的发病风险无关;MMP-2-735C/T和77MP-2-418G/C多态与子宫内膜异位症和腺肌病的发病风险无明显关联.
目的 探討基質金屬蛋白酶-2(matrix metalloproteinase-2,MMP-2)和金屬蛋白酶組織抑製劑-2(tissue inhibitor of metalloproteinase-2,TIMP-2)基因啟動子區單覈苷痠多態性與子宮內膜異位癥和子宮腺肌病髮病風險的關繫.方法 採用PCR-限製性片段長度多態方法檢測298例子宮內膜異位癥患者(內異癥組)、180例子宮腺肌病患者(腺肌病組)和324名對照婦女(對照組)MMP-2和TIMP-2基因型頻率的分佈.結果 MMP-2-1306C/T多態的基因型和等位基因頻率分佈在子宮內膜異位癥組與對照組間差異無統計學意義(P>0.05);但在腺肌病組和對照組間MMP-2-1306C/T多態的基因型和等位基因頻率分佈均有明顯的差異(P<0.05);與CT+TT基因型相比,CC基因型明顯增加腺肌病的髮病風險,OR值為1.83(95%CI:1.13~2.96).MMP-2-735C/T多態的基因型和等位基因頻率分佈在3組間均未髮現明顯差異(P>0.05);統計學分析顯示MMP-2基因的2箇多態性位點間存在著連鎖不平衡(D'=0.74),但4種單倍型頻率在3組之間分佈差異無統計學意義(P>0.05).TIMP-2-418G/C多態的等位基因頻率分佈在3組間差異無統計學意義(P>0.05),但CC基因型頻率在子宮內膜異位癥組患者中為0.7%,與對照組(3.7%)比較,差異有統計學意義(P<0.05).結論 MMP-2-1306C/T多態C等位基因的存在可明顯增加腺肌病的髮病風險,但與子宮內膜異位癥的髮病風險無關;MMP-2-735C/T和77MP-2-418G/C多態與子宮內膜異位癥和腺肌病的髮病風險無明顯關聯.
목적 탐토기질금속단백매-2(matrix metalloproteinase-2,MMP-2)화금속단백매조직억제제-2(tissue inhibitor of metalloproteinase-2,TIMP-2)기인계동자구단핵감산다태성여자궁내막이위증화자궁선기병발병풍험적관계.방법 채용PCR-한제성편단장도다태방법검측298례자궁내막이위증환자(내이증조)、180례자궁선기병환자(선기병조)화324명대조부녀(대조조)MMP-2화TIMP-2기인형빈솔적분포.결과 MMP-2-1306C/T다태적기인형화등위기인빈솔분포재자궁내막이위증조여대조조간차이무통계학의의(P>0.05);단재선기병조화대조조간MMP-2-1306C/T다태적기인형화등위기인빈솔분포균유명현적차이(P<0.05);여CT+TT기인형상비,CC기인형명현증가선기병적발병풍험,OR치위1.83(95%CI:1.13~2.96).MMP-2-735C/T다태적기인형화등위기인빈솔분포재3조간균미발현명현차이(P>0.05);통계학분석현시MMP-2기인적2개다태성위점간존재착련쇄불평형(D'=0.74),단4충단배형빈솔재3조지간분포차이무통계학의의(P>0.05).TIMP-2-418G/C다태적등위기인빈솔분포재3조간차이무통계학의의(P>0.05),단CC기인형빈솔재자궁내막이위증조환자중위0.7%,여대조조(3.7%)비교,차이유통계학의의(P<0.05).결론 MMP-2-1306C/T다태C등위기인적존재가명현증가선기병적발병풍험,단여자궁내막이위증적발병풍험무관;MMP-2-735C/T화77MP-2-418G/C다태여자궁내막이위증화선기병적발병풍험무명현관련.
Objective To investigate the association of single nucleotide polymorphisms(SNPs)in matrix met alloproteinase-2(MMP-2)and tissue inhibitor of metalloproteinase-2(TIMP-2) with the risk of endometriosis and adenomyosis.Methods Genotypes of MMP-2 and TIMP-2 were analyzed by polymerase chain restriction-restriction fragment length polymorphism(PCR-EnLP) method among 298 endometriosis patients,180 adenomyosis patients and 324 matched eontml women.Results No significant difference was found in allele frequencies and genotype distributions of MMP-2-1306C/T polymorphism between endometriosis patients and control women(P>0.05).However,there were significant differences in genotype and allele distnbutions of MMP-2-1306C/T polymorphism between adenomyosis patients and contml women(P<0.05). Compared with CT+TT genotypes,CC genotype significantly increases the risk of adenomyosis,with an odds ratio of 1.83(95%CI=1.13-2.96).No significant difference was shown in allele frcquencies and genotype distributions of theMMP-2 -735C/T polymorphism among the three groups (P>0.05).MMP-2 -1306C/T and-735C/T polymorphisms displayed linkage disequilibrium(D'=0.74).There Was no significant differenee in haplotype distributions of the two MMP-2 SNPs among the three groups(P>0,05).No significant difference Was found in allele frequencies of TIMP-2-418G/C polymorphism among the three groups(P>0.05).However,the frequency of TIMP-2 CC genotype in endometriosis patients(0.7%)was significantly lower than that in the control women(3.7%)(P<0.05).Conclusion The Callele of MMP-2-1306C/T polymorphism did not modify the risk of developing endometfiosis but significantly increase the risk of developing adenomyosis.The MMP-2-735C/T and TIMP-2-418G/C polymorphisms were not associated with the risk of developing endometriosis or adenomyosis.