血小板源性生长因子-D基因多态性与大肠癌遗传易感性关系的研究

目的 探讨血小板源性生长因子-D（PDGF-D）基因多态性与大肠癌发病的关系。方法 选择88例大肠癌组织和50例正常大肠组织为研究对象,应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术进行检测PDGF-D-858A/C和＋ 3166C/G位点的基因型.结果 PDGF-D基因-858A/C位点多态性在大肠癌组和正常组的分布差异无统计学意义（P＞0.05）,而PDGF-D基因＋3166C/G多态性在两组人群中的分布差异有统计学意义（P＜0.05）,通过Logistic回归分析发现PDGF-D基因＋3166C/G位点中,携带G等位基因的基因型（CG ＋GG）可增加总体大肠癌发病风险,未发现-858A/C位点与大肠癌的发生显著相关.PDGF-D基因-858A/C和＋3166C/G两个位点之间存在连锁不平衡.利用这2个位点构建单体型,发现单体型CG在大肠癌组中的频率显著高于对照组中的频率（OR=3.2,95％ CI：1.3 ～8.3,P＜0.05）.结论 PDGF-D＋3166C/G位点基因多态性与大肠癌发病有关,其中＋3166 G等位基因可能是大肠癌的遗传易感基因,PDGF-D基因CG单体型是大肠癌发病的危险因素。

Study on Association of Platelet-derived Growth Factor-D Gene Polymorphism with Genetic Susceptibility to Colorectal Cancer

Objective To explore the relationship between platelet-derived growth factor-D（PDGF-D） genetic polymorphisms and the risk of colorectal cancer.Methods Eighty-eight cases of colorectal cancer tissues and fifty cases of normal colorectal tissues were investigated for detecting the PDGF-D-858A/C and ＋ 3166C/G genotype by polymerase chain reaction restriction fragment length polymorphisms （PCR-RFLP） techniques.Results The distributions of PDGF-D gene-858A/C polymorphism was not significant different between case of colorectal cancer and control group （P ＞ 0.05）,but the PDGF-D gene ＋ 3166C/G polymorphism was significant different（P ＜ 0.05）.Logistic regression analysis was performed to identify that as compared with the ＋ 3166C/G genotype,the ＋ 3166G carriers （CG ＋ GG） had a increased risk of colorectal cancers.There was no significant relationship between-858 genotype and colorectal cancer.PDGF-D-858A/C and ＋ 3166C/G polymorphisms existed linkage disequilibrium.Advance analysis showed that the frequency of CG haplotype（-858/＋ 3166） was significantly higher in colorectal cancer group than in normal group（OR =3.2 ;95％ CI：1.3-8.3 ;P =0.015）.Conclusion PDGF-D gene ＋ 3166C/G polymorphism is associate with colorectal cancer,＋ 3166 G allele is an important genetic susceptibility gene for colorectal cancer.CG haplotype is an independent risk factor to colorectal cancer.