中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
2期
209-213
,共5页
贾静辉%康山%赵健%张晓娟%王娜%周荣秒%李琰
賈靜輝%康山%趙健%張曉娟%王娜%週榮秒%李琰
가정휘%강산%조건%장효연%왕나%주영초%리염
上皮性卵巢癌%MMP-12基因%MMP-13基因%单核苷酸多态性%发病风险
上皮性卵巢癌%MMP-12基因%MMP-13基因%單覈苷痠多態性%髮病風險
상피성란소암%MMP-12기인%MMP-13기인%단핵감산다태성%발병풍험
epithelial ovarian carcinoma%MMP-12 gene%MMP-13 gene%single nucleotide polymorphism%risk
目的 探讨MMP-12、-13基因启动子区功能多态性与上皮性卵巢癌发病风险的关系.方法 应用聚合酶链反应-限制性片段长度多态性方法 检测300例上皮性卵巢癌患者和300名对照妇女的MMP-12-82A/G及MMP-13-77A/G单核甘酸多态性(single nucleotide polymorphism,SNP)的基因型和等位基因频率分布情况.结果 上皮性卵巢癌组中MMP-12-82A/G SNP的A、G等位基因频率和AA、AG基因型频率与对照组相比差异有统计学意义(P=0.004;P=0.003);与AA基因型比较,AG基因型可显著增加上皮性卵巢癌的发病风险(OR=2.81,95%CI:1.38～5.74).MMP-13-77 A/G SNP的等位基因及基因型频率在上皮性卵巢癌组和对照组中分布差异无统计学意义(P=0.06和P=0.15),但根据病理类型分层分析发现,与GG基因型相比,AA基因型可显著增加浆液性及粘液性上皮性卵巢癌的发病风险(OR=1.93,95%CI:1.05～3.53;OR=5.16,95%CI:1.62～16.44).结论 MMP-12-82 A/G和MMP-13-77A/G多态性位点可能为上皮性卵巢癌或特定病理类型上皮性卵巢癌发病的独立风险因素.
目的 探討MMP-12、-13基因啟動子區功能多態性與上皮性卵巢癌髮病風險的關繫.方法 應用聚閤酶鏈反應-限製性片段長度多態性方法 檢測300例上皮性卵巢癌患者和300名對照婦女的MMP-12-82A/G及MMP-13-77A/G單覈甘痠多態性(single nucleotide polymorphism,SNP)的基因型和等位基因頻率分佈情況.結果 上皮性卵巢癌組中MMP-12-82A/G SNP的A、G等位基因頻率和AA、AG基因型頻率與對照組相比差異有統計學意義(P=0.004;P=0.003);與AA基因型比較,AG基因型可顯著增加上皮性卵巢癌的髮病風險(OR=2.81,95%CI:1.38～5.74).MMP-13-77 A/G SNP的等位基因及基因型頻率在上皮性卵巢癌組和對照組中分佈差異無統計學意義(P=0.06和P=0.15),但根據病理類型分層分析髮現,與GG基因型相比,AA基因型可顯著增加漿液性及粘液性上皮性卵巢癌的髮病風險(OR=1.93,95%CI:1.05～3.53;OR=5.16,95%CI:1.62～16.44).結論 MMP-12-82 A/G和MMP-13-77A/G多態性位點可能為上皮性卵巢癌或特定病理類型上皮性卵巢癌髮病的獨立風險因素.
목적 탐토MMP-12、-13기인계동자구공능다태성여상피성란소암발병풍험적관계.방법 응용취합매련반응-한제성편단장도다태성방법 검측300례상피성란소암환자화300명대조부녀적MMP-12-82A/G급MMP-13-77A/G단핵감산다태성(single nucleotide polymorphism,SNP)적기인형화등위기인빈솔분포정황.결과 상피성란소암조중MMP-12-82A/G SNP적A、G등위기인빈솔화AA、AG기인형빈솔여대조조상비차이유통계학의의(P=0.004;P=0.003);여AA기인형비교,AG기인형가현저증가상피성란소암적발병풍험(OR=2.81,95%CI:1.38～5.74).MMP-13-77 A/G SNP적등위기인급기인형빈솔재상피성란소암조화대조조중분포차이무통계학의의(P=0.06화P=0.15),단근거병리류형분층분석발현,여GG기인형상비,AA기인형가현저증가장액성급점액성상피성란소암적발병풍험(OR=1.93,95%CI:1.05～3.53;OR=5.16,95%CI:1.62～16.44).결론 MMP-12-82 A/G화MMP-13-77A/G다태성위점가능위상피성란소암혹특정병리류형상피성란소암발병적독립풍험인소.
Objective To investigate whether the functional polymorphisms in the promoter region of MMP-12 (-82 A/G) and MMP-13 (-77 A/G) are associated with epithelial ovarian carcinoma (EOC).Methods The MMP-12 -82A/G and MMP-13 -77A/G were genotyped by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) in 300 epithelial ovarian carcinoma patients and 300control women. Results The A/G genotype frequency of the MMP-12 gene was significantly higher in the patients than in the controls (P=0.003);similarly, the frequency of MMP-12 -82G allele was higher in the patient group (P=0.004). Compared with the A/A genotype, the A/G genotype carriers significantly increased the risk of EOC development (OR = 2.81, 95%CI: 1.38-5.74). No overall association between the MMP-13 -77A/G polymorphism and EOC (P= 0.15) was observed. However, the A/A genotype carriers in the MMP-13 -77A/G locus had significantly higher risk of developing serous-papillary and mucinous ovarian cancer (OR=1. 93, 95%CI: 1.05-3.53;OR=5.16, 95%CI: 1.62-16.44, respectively),comparing with the G/G genotype carriers. Combining the two SNPs, the haplotype distributions in patients were not significantly different from that in control women (P = 0.06). Conclusion These results suggested that individuals with MMP-12 -82A/G and MMP-13 -77A/A might have higher risk of overall or special histological type of EOC development.
