摘要
目的 探讨陕西人群环氧化酶-2（COX-2）基因启动子区的rs20417 G/C及rs2745557 G/A 2个位点的基因多态性并分析其与结直肠癌（CRC）发病风险及病理参数的相关性.方法 采用病例-对照研究,利用聚合酶链式反应和限制性片段长度多态性（PCR-RFLP）技术,对198例CRC患者和200例健康人（入组者均长期居住在陕西省西安市及周边县、市）的COX-2基因的2个位点的多态性进行检测,并运用SPSS 19.0软件统计分析各位点的基因型分布和等位基因频率.分析其与CRC发病风险及病理参数的相关性.结果 在陕西人群中,COX-2 rs20417 G/C位点多态性的GC或CC基因型频率与对照组的差异无统计学意义,而GC＋ CC基因型频率在病例组的频率显著高于对照组（OR=1.61;95％ CI：1.02～2.56）.病例组含有C等位基因的GC或CC基因型的淋巴结转移以及肿瘤分期与GG基因型比较,差异有统计学意义（P＜0.01及P＜0.01）;两个等位基因频率分布均与发病部位无显著相关性.而COX-2rs2745557 G/A位点多态性结果显示：GA基因型在病例组的频率较对照组显著增高（OR=1.98,95％ CI：1.15～3.40）,AA基因型在病例组中的频率亦较对照组高（OR-1.87,95％ CI：1.09～3.19）,A等位基因携带者在病例组中的频率高于对照组（OR=1.92,95％CI：1.18～3.13）.含有A等位基因的GA或AA基因型相对于GG基因型,淋巴结转移以及肿瘤分期差异均有统计学意义（P均＜0.01）;两个等位基因频率分布均与发病部位无显著相关性.结论 相同环境条件下,陕西人群中携带COX-2 rs20417 C等位基因型的个体和rs2745557 A等位基因型的个体患CRC的风险增加,rs20417 C等位基因频率、rs2745557的A等位基因频率与CRC发生发展及淋巴结转移密切相关.两个基因位点的各等位基因频率与CRC的发生部位均无明显相关性.
Objective To investigate the correlation between polymorphisms in the promoter region （rs20417 G/C and rs2745557 G/A） of cyclooxygenase-2 （COX-2） and the risk of colorectal cancer （CRC） in Shaanxi population.Methods A case-control study was conducted in 198 patients with CRC and 200 healthy individuals who lived in Xi＇an City and neighboring cities and counties,Shaanxi Province.Single nucleotide polymorphisms （SNPs） of COX-2 rs20417 G/C and rs2745557 G/A were measured by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）.The SPSS 19.0 software was used to analyze geno-typic and allelic frequencies and assess their correlation with the risk factors of CRC and pathological parameters.Results In the present study,there was no difference in GC or CC genotype frequency of rs20417 G/C between CRC group and control group （P＞0.05）,but GC＋CC genotype frequency was significantly increased in CRC group compared to control group （OR =1.61 ; 95％ CI：1.02-2.56）.Meanwhile,obvious differences were observed in the polymorphism distribution of COX-2 rs2745557 G/A between CRC group and control group.Stratification analysis revealed a significantly increased risk in CRC patients carrying the GA genotype （OR =1.98,95％ CI：1.15-3.40）,AA genotype （OR=1.87,95％ CI：1.09-3.19） and GA＋AA genotype （OR=1.92,95％ CI：1.18-3.13） compared with the control group.Additionally,there was no difference in the distribution of COX-2 rs20417 G/C and rs2745557 G/A between colon cancer and rectal cancer.However,patients carrying the COX-2 rs20417 C or rs2745557 A allele had a higher risk of lymph node metastasis and CRC progression.Conclusion COX-2 rs20417 G/C and rs2745557 G/A genotype is associated with a higher risk of CRC,lymph node metastasis and CRC progression.
出处
《西安交通大学学报（医学版）》
CAS
CSCD
北大核心
2014年第4期522-526,550,共6页
Journal of Xi’an Jiaotong University（Medical Sciences）
基金
国家自然科学基金资助项目(No.30771895)~~
关键词
结直肠癌
环氧化酶-2
限制性片段长度多态性
单核苷酸多态性
陕西人群
colorectal cancer
cyclooxygenase-2 （COX-2）
polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）
single nucleotide polymorphisms （SNPs）
Shaanxi Population
