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  

Polymorphism analysis of rs16941 and rs16942 loci of BRCA1 gene Uighur and Han sporadic breast cancer

作　　者：缑文斌[1] 王烨[2] 张巍[3] 

机构地区：[1]新疆生产建设兵团第六师医院病理科,五家渠831300 [2]新疆医科大学附属肿瘤医院病理科,乌鲁木齐830011 [3]新疆医科大学第一附属医院病理科,乌鲁木齐830054

出　　处：《临床与实验病理学杂志》2017年第1期46-50,共5页Chinese Journal of Clinical and Experimental Pathology

基　　金：新疆维吾尔自治区自然科学基金(2014211c049)

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。Purpose To investigate whether there is a difference in BRCA1 gene single nucleotide polymorphisms （SNPs） in Uighurs and Han Chinese sporadic breast cancer, and to analyze the relationship between SNPs locus and tumor susceptibility. Methods 100 cases of sporadic breast cancer （Uighur and Han 50 cases each） and 100 cases of mammary gland disease （ Uighur and Han 50 cases each） were collected as the research object, the BRCA1 gene rs16941 and rs16942 were sequenced. Results The distribution of AA, AG and GG geno- types of rs16941 and rs16942 between Uygur and Han breast cancer groups were statistically significant （ P = 0. 009, P = 0. 017）. Compared with AA genotype of rs16941, AG genotype of rs16941 could reduce the risk of breast cancer in Uighurs （OR = 0.964, 95%CI： 0.260-3.583, P =0.009）. Comparedwith AA genotype of rs16942, AG genotype of rs16942 could in- crease the risk of breast cancer in Uighurs （ OR = 1. 017, 95% CI： O. 293 -3. 916, P = 0. 017）. Compared with AA genotype of rs16941, AG genotype could reduce the risk of breast cancer in I-Ian nationality （OR =0. 824, 95% CI： O. 210 -3. 234, P = 0. 044）. Conclusion The distribution of AA, AG and GG gen- otypes of rs16941 and rs16942 in Uygur and Han breast cancer groups are statistically significant, and SNPs is correlated with tumor susceptibility.

关 键 词：乳腺肿瘤 BRCAl基因 单核苷酸多态性 肿瘤易感性 

分 类 号：R737.9[医药卫生—肿瘤]