目的 探索EEFSEC基因(rs10934853,A)、染色体17q24区(rs1859962,T)和染色体11q13.2(rs7931342,T)的基因变异类型与前列腺癌患病发病风险的关联,分析这些基因型与前列腺癌患者临床特征的关系。方法 采用病例对照研究设计,比较病例组中124例患者和对照组中138例正常对照者的 EEFSEC 基因( rs10934853, A)、染色体17q24区(rs1859962,T)和染色体11q13.2(rs7931342,T)等位基因和基因型频率的差异,并探讨各基因变异与患者的确诊年龄, BMI,Gleason评分,PSA浓度,肿瘤分期等临床特征之间的关联。结果 EEFSEC 基因(rs10934853,A)、染色体17q24区(rs1859962,T)和染色体11q13.2(rs7931342,T)的基因型和等位基因在病例组和对照组中的频率分布差异均无统计学意义(P>0.05),然而,EEFSEC基因(rs10934853,A)和染色体17q24区(rs1859962,T)存在更强的基因-基因协同的交互作用(P=0.0396,OR=1.722,95%CI=1.0244~2.8944);病例组基因型-表型观察指标关联分析表明,3个SNPs与PCa患者的年龄、Gleason评分、PSA浓度及烟酒均无关联(P>0.05),然而,染色体17q24区(rs1859962,T)位点与食用蛋类有关(P=0.005)。结论 EEFSEC基因(rs10934853,A),17q24(rs1859962,T)和11q13.2(rs7931342,T)位点可能与我国北方人群前列腺癌的发病风险无关联,但是存在有基因之间增加PCa发病风险的协同效应。
Objectives To explore the association between the variations of EEFSEC gene ( rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) and prostate cancer (Pca) risk in Chinese population in Beijing , and to understand the relationship between genotypes and phenotypes including clinical characteristics and life style , etc.in patients with prostate cancer .Methods Based on a case-control study , 124 patients with prostate cancer and 138 age-matched control sub-jects were recruited.Information of clinical phenotype and life style , etc.in the prostate cancer patients was collected .We com-pared the differences of allele and genotype frequencies of EEFSEC gene (rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) between the two groups and explored the relationship between different genotypes and clinical features such as age , BMI, Gleason score, PSA level and tumor stage , by Fisher’s exact test and Chi-square test in patients with PCa.Multifactor dimensionality reduction was used to detect the gene-gene interactions .Results There was no obverse distribution of difference in those three SNPS ’ allele or genotype frequency or three kinds of haplotype that composed of EEFSEC gene (rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) between case and control groups (P〉0.05).Analysis showed that chromosome 17q24(rs1859962,T) genotype frequency distribution was correlated eating eggs (P=0.005).Conclusions There is no obvious association of EEFSEC gene (rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) with PCa in our sample.They may not be genetic risk factors of PCa in Beijing Chinese population.