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维吾尔族、汉族散发性乳腺癌BRCA1基因rs16941及rs16942位点多态性分析

发布时间:2018-11-18 17:44
【摘要】:目的探讨维吾尔族及汉族散发性乳腺癌BRCA1基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)是否存在差异,并分析SNPs位点与肿瘤易感性的关系。方法选取100例散发性乳腺癌(维吾尔族、汉族各50例)及100例乳腺腺病(维吾尔族、汉族各50例)作为分析对象,对BRCA1基因rs16941及rs16942进行DNA测序。结果 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组之间的分布差异有统计学意义(P=0.009,P=0.017)。肿瘤易感性比较:维吾尔族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.964,95%CI:0.260~3.583,P=0.009);维吾尔族rs16942位点中AG与AA基因型相比,其能够增加乳腺癌的发病风险(OR=1.017,95%CI:0.293~3.916,P=0.017)。汉族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.824,95%CI:0.210~3.234,P=0.044)。结论 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组的分布,差异有统计学意义;SNPs与肿瘤易感性有相关性。
[Abstract]:Objective to investigate the difference of single nucleotide polymorphisms (single nucleotide polymorphisms,SNPs) of BRCA1 gene in sporadic breast cancer between Uygur and Han nationality, and to analyze the relationship between SNPs locus and tumor susceptibility. Methods 100 cases of sporadic breast cancer (50 cases in Uygur nationality and 50 cases in Han nationality) and 100 cases of breast adenosis (50 cases in Uygur nationality and 50 cases in Han nationality) were selected as analysis objects. DNA sequencing was performed on rs16941 and rs16942 of BRCA1 gene. Results the AA,AG,GG genotypes of rs16941 and rs16942 were significantly different between Uygur and Han breast cancer groups (P0. 009 and P0. 017). Comparison of tumor susceptibility: compared with AA genotype, AG in rs16941 locus of Uygur nationality can reduce the risk of breast cancer (OR=0.964,95%CI:0.260~3.583,P=0.009). Compared with AA genotype, AG in Uygur rs16942 locus can increase the risk of breast cancer (OR=1.017,95%CI:0.293~3.916,P=0.017). Compared with AA genotype, AG in rs16941 locus of Han nationality can reduce the risk of breast cancer (OR=0.824,95%CI:0.210~3.234,P=0.044). Conclusion the distribution of AA,AG,GG genotypes of rs16941 and rs16942 in Uygur and Han population is statistically significant, and SNPs is correlated with the susceptibility to cancer.
【作者单位】: 新疆生产建设兵团第六师医院病理科;新疆医科大学附属肿瘤医院病理科;新疆医科大学第一附属医院病理科;
【基金】:新疆维吾尔自治区自然科学基金(2014211c049)
【分类号】:R737.9


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