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目的探索染色体11q13.2(rs7931342,G)、8q24(rs13252298,G)和8q24(rs7837688,T)的常见变异与北京市区人群PCa患病风险的关联,并了解其与PCa患者中的基因型和临床表型、遗传、膳食习惯、年龄等的关系。方法采用病例-对照设计,包括124例PCa患者和138例年龄匹配的正常对照者,收集PCa患者年龄、临床表型、遗传、膳食习惯等信息,用聚合酶链式反应-高分辨率熔解曲线结合DNA测序技术,检测染色体11q13.2(rs7931342,G)、8q24(rs13252298,G)及8q24(rs7837688,T)基因型及等位基因频率在两组间的分布情况,并探讨各基因与患者的确诊年龄、BMI、Gleason评分、PSA浓度、肿瘤分期等临床特征之间的关联。采用MDR方法进行基因-基因交互作用分析。结果 11q13.2(rs7931342,G)、8q24(rs13252298,G)及8q24(rs7837688,T)的基因型、等位基因频率及由8q24(rs13252298,G)和8q24(rs7837688,T)构成的4种单倍型在病例组和对照间组间的分布差异均无显著性(P>0.05)。基因型-临床表型观察指标关联分析显示:8q24(rs13252298,G)位点与患病年龄和经常食用洋葱相关(P=0.030;P=0.040),应用Binary Logistic回归分析,发现11q13.2(rs7931342,G)位点PCa发病与BMI指数相关(P=0.020),8q24(rs13252298,G)位点PCa发病与饮茶、食用豆制品、食用洋葱相关(P=0.003、0.048、0.037),8q24(rs7837688,T)位点PCa发病与BPH病史或相关症状相关(P=0.039)。3个位点的交互作用分析显示,最佳模型仅包含1个位点(rs7931342,G),交叉验证一致性为10/10,检验平衡准确度为0.5420,交叉验证检验组P=0.6727。结论 11q13.2(rs7931342,G)、8q24(rs13252298,G)和8q24(rs7837688,T)位点可能与前列腺癌的发生无关联。
Objective To explore the association between common mutations of chromosome 11q13.2 (rs7931342, G), 8q24 (rs13252298, G) and 8q24 (rs7837688, T) and the risk of PCa in Beijing urban population and to find out its association with PCa genotype And clinical phenotype, genetic, dietary habits, age, etc. relationship. Methods A case-control study was conducted in 124 PCa patients and 138 age-matched controls. The age, clinical phenotype, genetic and dietary habits of patients with PCa were collected and analyzed by polymerase chain reaction-high resolution melting curve DNA sequencing was used to detect the distribution of 11q13.2 (rs7931342, G), 8q24 (rs13252298, G) and 8q24 (rs7837688, T) genotypes and allele frequencies between the two groups, The association between clinical features such as age at diagnosis, BMI, Gleason score, PSA concentration, tumor stage and more. MDR method for gene-gene interaction analysis. Results The genotype and allele frequencies of 11q13.2 (rs7931342, G), 8q24 (rs13252298, G) and 8q24 (rs7837688, T) and the allele frequency and the four allelic frequencies of 8q24 (rs13252298, G) and 8q24 (rs7837688, T) Haplotype distribution between case group and control group showed no significant difference (P> 0.05). The genotype-clinical phenotypic correlation analysis showed that the 8q24 (rs13252298, G) locus was associated with the age at onset and the regular consumption of onions (P = 0.030; P = 0.040). Binary Logistic regression analysis showed that 11q13.2 (P = 0.020). The incidence of PCa in 8q24 (rs13252298, G) was associated with drinking tea, eating soy products and eating onions (P = 0.003,0.048,0.037), 8q24 (rs7837688, T) site PCa pathogenesis and history of BPH or related symptoms (P = 0.039). The interaction analysis of the three loci showed that the best model contained only one locus (rs7931342, G), cross-validation consistency was 10/10, test balance accuracy was 0.5420, and cross-validation test was P = 0.6727. Conclusions 11q13.2 (rs7931342, G), 8q24 (rs13252298, G) and 8q24 (rs7837688, T) sites may not be associated with the development of prostate cancer.