摘要
目的:探讨p21基因外显子3′非翻译区(UTR)第20碱基对的核苷酸多态性(SNPs)以及p27基因第109密码子的SNP对食管鳞状细胞癌(ESCC)发生及淋巴结转移的影响.方法:采用聚合酶链反应(PCR)-片段长度分析和PCR-限制性片段长度多态性(RFLP)方法检测p21基因外显子的3′UTR第20碱基对SNP以及p27基因第109密码子SNP位点的基因型.结果:p21和p27的基因型分布在ESCC组及对照组中均符合Hardy-Weinberg平衡(P>0.05),在ESCC组和对照组中,ESCC患者p21基因3′UTR和p27基因第109密码子的多态性基因型和等位基因型分布与对照组无统计学差异.吸烟状况分层分析发现,吸烟患者p21的TT基因型频率(26.0%)显著高于健康吸烟组(12.0%)(χ2=8.60,P=0.014).与CC基因型相比,携带TT基因型可显著增加吸烟者的ESCC发病风险.经性别和年龄校正的比值比(OR)及其95%的可信区间(CI)分别为3.36(95%,CI=1.45～7.75),而在非吸烟的患者和健康个体中,p21基因型及等位基因型频率差异均无统计学意义;p27基因型及等位基因型频率在吸烟及非吸烟患者和健康个体中差异均无统计学意义.有无淋巴结转移分层分析结果表明,有淋巴结转移组的p21的TT基因型频率(26.4%)显著高于无淋巴结转移组(15.3%)(χ2=6.128,P=0.013).与常见单体型C/C相比,携带TT基因型与TT+T/C基因型可明显增加ESCC患者淋巴结转移的风险,其性别、年龄校正的OR值及其95%的CI分别为3.11(95%,CI=1.28～7.52)和1.98(95%,CI=1.03～3.80),而p27基因多态性在有淋巴结转移组和无淋巴结转移组之间差异无统计学意义,p27基因多态性与淋巴结转移的风险性无关.结论:p21基因3′UTR和p27基因第109密码子的多态性基因型和等位基因型不单独影响ESCC的发生和发展;p213′UTR的TT等位基因可能增加吸烟人群ESCC易感性,并可能增加淋巴结转移的风险性.
AIM： To investigate the influence of the single nucleotide polymorphism variants （ SNPs ） in the 3′-untranslated region of p21 and in codon 109 of p27 on the development and lymphatic metastaseis of esophageal squamous cell carcinoma（ ESCC）. METHODS： The SNPs of p21 and p27 were analyzed by polymerase chain reaction （PCR）-fragment length analysis and PCR-restriction fragment length polymorphism analysis （PCR-RFLP） analysis in 202 ESCC patients and 265 healthy controls. RESULTS： ① The overall genotype and allelotype distributions of p21 3′UTR and the codon 109 of p27 polymorphisms in ESCC patients were not significantly different from those in healthy controis （ all P 〉 0.05 ）. ② Stratification analysis showed that the p21 gene TT allele frequency in smoking patients （26.0%） was significantly higher than that in healthy smokers（ 12.0% ） （ χ^2 = 8.60, P = 0. 014）. Therefore, compared with p21 C/C genotype, the T/T genotype significantly increased the risk for ESCC （ sex and age adjusted OR = 3.36, 95%, CI = 1.45-7.75）. However, p21 allele was no significantly different in both non-smoking ESCC group and healthy group （ P 〉 0. 05 ）. Stratification analysis revealed that in either smoking group or non-smoking group the frequency of p27 allele in ESCC and healthy groups was not significantly different （P 〉 0. 05 ）. ③ The ESCC cases were further stratified according to the status of lymphatic metastasis at the time of diagnosis. The results showed that the p21 T/T allele （26.4%）was more common in ESCC patients with lymphatic metastasis than those without lymphatic metastasis （ 15. 3% ）（ χ^2 = 6. 128, P = 0. 013 ）. Compared with familiar monadelphous C/C genotype, T/T or TT＋ T/C genotype significantly increased the risk for lymphatic metastasis [ sex and age adjusted OR was 3.11（95%,CI=1.28-7.52） and 1.98（95%,CI=1.03- 3.80） ]. No significant difference was observed in the frequencies of the p27 genotypes between ESCC patients with
出处
《第四军医大学学报》
北大核心
2008年第17期1600-1603,共4页
Journal of the Fourth Military Medical University
