论文部分内容阅读
目的 研究低发病的中国北方汉族人群雄激素受体 (AR)基因、5α 还原酶 (SRD5A2 )基因和维生素D受体 (VDR)基因多态性与前列腺癌发病危险性的关系 ,与高发病人群基因多态性的分布频率进行比较 ,探讨前列腺癌发病种族差异的原因。方法 应用病例对照研究的方法 ,对 112例前列腺癌患者和190名健康对照者 (均来自中国北方汉族人群 )外周血提取的DNA样本 ,应用限制性酶切片段长度多态性和变性高效液相色谱的方法 ,对VDR、AR、SRD5A2基因的不同多态位点进行检测 ,并对不同多态位点基因型分布频率与高发病人群进行比较研究。结果 在中国北方汉族人群 ,前列腺癌易感基因AR基因CAG微卫星多态与前列腺癌的发病危险明显相关 ,AR基因CAG重复次数小于 2 2的频率在病例组明显高于对照组 (P <0 0 5 )。VDR和SRD5A2基因型频率在病例、对照两组间无明显差异 (P >0 0 5 )。与西方高发病人群相比 ,VDR基因BsmⅠ和TaqⅠ,SRD5A2基因V89L ,AR基因CAG微卫星多态位点的基因型频率分布存在显著差异。结论 中国北方汉族人群AR基因CAG多态与前列腺癌发病危险相关 ,可作为前列腺癌的基因危险因素 ,来确定高危人群。不同种族人群前列腺癌易感基因的不同多态位点基因型频率分布的差异 ,可能是前列腺癌发病种族差异的原因之一。
Objective To investigate the association between gene polymorphisms of androgen receptor (AR), 5α-reductase (SRD5A2) and vitamin D receptor (VDR) in Han nationality in northern China with low risk of developing prostate cancer, Gene polymorphism distribution frequency comparison to explore the causes of ethnic differences in the incidence of prostate cancer. Methods Using the case-control study, DNA samples extracted from peripheral blood of 112 prostate cancer patients and 190 healthy controls (all from Han nationality of northern China) were analyzed by restriction endonuclease fragment length polymorphism and denaturing high performance liquid phase Chromatographic methods were used to detect the polymorphic sites of VDR, AR and SRD5A2 genes and to compare the frequency of genotype distribution and high prevalence among different polymorphic loci. Results In northern Han Chinese population, CAG microsatellite polymorphism of AR gene of prostate cancer susceptibility gene was significantly associated with the risk of prostate cancer. The frequency of AR gene CAG less than 2 2 in case group was significantly higher than that in control group (P <0 0 5). The frequencies of VDR and SRD5A2 genotypes were not significantly different between cases and controls (P> 0.05). Compared with the high prevalence in western countries, there were significant differences in the frequency distribution of genotypes between VDR gene BsmⅠ and TaqⅠ, SRD5A2 gene V89L and AR gene CAG microsatellite loci. Conclusions CAG polymorphism of AR gene in northern Chinese Han population is associated with the risk of prostate cancer and may be used as a genetic risk factor for prostate cancer to identify high risk population. The differences in the frequency distribution of different polymorphic loci genotypes of prostate cancer susceptibility genes in different ethnic groups may be one of the reasons for the racial differences in the incidence of prostate cancer.