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MMP-12基因多态性与食管癌、贲门癌发病风险的关联

Correlation of MMP-12 Polymorphism to Risk of Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma

  • 摘要: 目的 本研究旨在探讨基质金属蛋白酶-12(MMP-12)基因启动子区转录起始点上游82bp处A/G单核苷酸多态性(SNP)与河北省食管癌、贲门癌高发区—磁县、涉县食管鳞状细胞癌(ESCC)和贲门腺癌(GCA)遗传易感性的关系。方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测316名ESCC患者、243名GCA患者和609名健康对照的MMP-12 A-82G SNP的基因型。结果 MMP-12 SNP的基因型及等位基因频率在两患者组与健康对照组之间,其总体分布差异无统计学意义(P>0.05)。根据吸烟状况分层分析发现,吸烟组中GCA患者组与对照组A/A、A/G基因型频率分别是89.8%、10.2%和95.0%、5.0%,GCA患者组A/G基因型频率虽明显高于对照组,但两组相比差异无统计学意义(χ2=3.43, P=0.06),与A/A基因型相比,携带A/G基因型有增加吸烟个体GCA发病风险的趋势(OR=2.13, 95% CI=0.94~4.83)。结论 MMP-12基因A-82G SNP可能与河北省磁县和涉县人群的食管癌、贲门癌发病风险无关;但携带A/G基因型可能是吸烟人群GCA发病的危险因素。

     

    Abstract: Objective This study was designed to investigate the correlation of MMP-12 A-82G single nucleotide polymorphism (SNP) with susceptibility to esophageal squamous cell carcinoma (ESCC) and gastric cardiac carcinoma (GCA) in a population of high incidence region of Hebei Province. Methods MMP-12 promoter SNP (A-82G) was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in 316 ESCC patients, 243 GCA patients and 609 healthy controls. Results The overall genotype and allelotype distributions of MMP-12 in ESCC and GCA patients were not significantly different from those in healthy controls (P>0.05). When stratified for smoking status, the A/A, A/G genotype frequencies of MMP-12 in GCA patient and healthy controls of smoker group were 89.8%, 10.2% and 95.0%, 5.0% respectively, there was difference between two groups but no significant statistical difference(χ2=3.43,P=0.06).And the A/G genotype frequencies of MMP-12 in GCA patients were significantly higher than those in healthy controls, compared with A/A genotype, individuals with A/G genotype have a tendency of increasing susceptibility to GCA in smoker group (OR=2.13, 95% CI=0.94~4.83). Conclusion s In high incidence region of Hebei Province, the overall genotype and allelotype distributions of MMP-12 A-82G in ESCC and GCA patients were not significantly different from those in healthy controls; and in smoking individuals, A/G genotype probably is a risk factor for GCA.

     

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