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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。
Objective To investigate the differences of single nucleotide polymorphisms (SNPs) in BRCA1 gene between Uighur and Han nationality and to analyze the relationship between SNPs and tumor susceptibility. Methods 100 cases of sporadic breast cancer (50 cases of Uygur and Han nationality) and 100 cases of breast adenosis (50 cases of Uygur and Han nationality respectively) were selected as the analysis objects, and the BRCA1 gene rs16941 and rs16942 were sequenced. Results The distribution of AA, AG and GG genotypes of rs16941 and rs16942 in Uygur and Han nationality breast cancer groups were statistically different (P = 0.009, P = 0.017). Cancer susceptibility comparison: Uygur rs16941 locus AG and AA genotypes, it can reduce the risk of breast cancer (OR = 0.964,95% CI: 0.260 ~ 3.583, P = 0.009); Uygur rs16942 locus AG and AA genotypes increased the risk of developing breast cancer (OR = 1.017, 95% CI: 0.293 to 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 distributions of AA, AG, GG genotypes of rs16941 and rs16942 in Uygur and Han nationality breast cancer groups were statistically different. SNPs were correlated with tumor susceptibility.