采用病例-对照研究, 分析河北省磁、涉县食管鳞状细胞癌(ESCC)患者和贲门腺癌(GCA)患者与健康对照人群的基质金属蛋白酶-13(MMP-13)基因启动子区转录起始点上游77 bp处A/G多态等位基因和基因型频率分布的差异, 旨在探讨此基因多态性与ESCC、GCA遗传易感性的关系。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-13 A-77G SNP的基因型。结果表明, MMP-13 SNP的基因型及等位基因型频率在两患者组和健康对照组之间, 其总体分布均无显著性差异(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、G/G基因型频率分别是27.1%、44.1%、28.8%和17.8%、60.5%、21.7%, 两组相比具有显著性差异(c2=9.01, P =0.01), GCA患者组A/G基因型频率明显低于对照组, 与A/A基因型比较, A/G基因型可能减少吸烟个体GCA的发病风险(OR=0.48, 95% CI=0.28~0.83)。认为MMP-13基因A-77G SNP可能与河北省磁、涉县人群的食管癌、贲门癌发病风险无关; 但A/G基因型对吸烟人群的GCA发病可能具有防护作用。

Matrix metalloproteinase-13 (MMP-13) belongs to a family of enzymes that degrade all components of the extracellular matrix. Polymorphism in the promoter region of the MMP-13 gene may modify its transcriptional activity and protein level. This study was designed to investigate the correlation of MMP-13 A-77G single nucleotide polymorphism (SNP) with susceptibility to esophageal squamous cell carcinoma (ESCC) and gastric cardiac carcinoma (GCA) in a population from a high-incidence region of Hebei province. MMP-13 promoter SNP (A-77G) was genotyped by poly-merase chain reaction–restriction fragment length polymorphism (PCR-RFLP) analysis in 316 ESCC patients, 243 GCA patients and 609 healthy controls. The overall genotype and allelotype distributions of MMP-13 in ESCC and GCA pa-tients were not significantly different from those in healthy controls (P>0.05). When stratified for smoking status, the A/A, A/G, G/G genotype frequencies of MMP-13 in GCA patients and smoker controls group were 27.1%, 44.1%, 28.8% and 17.8%, 60.5%, 21.7% respectively. There was a significant difference between the two groups (c2=9.01,

P=0.01). The A/G genotype frequency in GCA patients was significantly lower than that in the controls, when compared to the A/A genotype, suggesting that individuals with the A/G genotype may have reduced susceptibility to GCA in the smoker group (OR=0.48, 95% CI=0.28~0.83). However, the G/G genotype showed no significant influence on the risk of developing GCA. Thus, in the region of Hebei Province where there is a high incidence of GCA and ESCC, the MMP-13 A-77G SNP may not be associated with cancer susceptibility. The A/G genotype may confer protection against GCA for smokers.