Background and purpose:Breast cancer as one of the most common malignant tumor among women in China, it accounts for 12.2% of all newly diagnosed breast cancers and 9.6% of all deaths from breast cancer worldwide. The aim of this study was to investigate the relationship between single nucleotide polymorphisms(SNPs) in 2q35rs13387042and 8q24 rs13281615and the risk of breast cancer in Han premenopausal women of Northern China. Methods:280 patients with breast cancer and 287 healthy controls in premenopausal state were genotyped for SNP 2q35rs13387042and 8q24 rs13281615 by the SNaPshot method, and compared the different genotypes and alleles with relation to breast cancer risk.Results:Differences of 2q35 rs13387042 genotype frequencies between breast cancer and control were signiifcantly different (P=0.017). No statistically signiifcant difference of 8q24 rs13281615 genotype frequencies between breast cancers and controls was found (P=0.967). The results of logistic regression showed that the carriers of GA genotype and GA+ AA genotype increased risk for breast cancer compared to the carriers with 2q35 rs13387042 GG genotype(OR=1.793, 95%CI: 1.177-2.733,P=0.007;OR=1.691, 95%CI: 1.122-2.550,P=0.012), but not the carriers of AA genotype; Compared with G allele, A allele signiifcantly increased the risk of breast cancer(OR= 1.505, 95%CI: 1.033-2.193,P=0.033). The carriers of AG genotype or GG genotype or AG+GG genotype did not confer risk for breast cancer compared to the carriers with 8q24 rs13281615 AA genotype(OR=0.992, 95%CI: 0.660-1.490,P=0.968;OR=1.047, 95%CI: 0.642-1.708,P=0.853;OR=1.007, 95%CI: 0.682-1.487,P=0.971); Compared with A allele, G allele did not increase the risk of breast cancer(OR=1.021, 95%CI: 0.809-1.288,P=0.863).Conclusion:This experiment veriifed that 2q35 rs13387042 polymorphism site increased risk of breast cancer susceptibility among Han premenopausal women of Northern China. There was not any signiifcant association between 8q24 rs13281615 poly-morphism site and breast cancer susceptibility among Han premenopausal women of Northern China under the current sampling scale.%背景与目的：乳腺癌作为中国女性最常见的恶性肿瘤，每年的新发数量和死亡数量分别占全世界的12.2%和9.6%，但与中国乳腺癌患者明显相关的基因多态位点至今尚不清楚。本研究旨在探讨2q35 rs13387042和8q24 rs13281615单核苷酸多态性与中国北方汉族绝经前妇女乳腺癌风险关系，为预防和治疗乳腺癌提供循证依据。方法：采用多重单碱基延伸单核苷酸多态性分型技术(SNaPshot)分析方法，检测了280例绝经前乳腺癌患者和287例绝经前正常对照者2q35 rs13387042和8q24 rs13281615多态性位点基因型，并比较不同基因型和等位基因与乳腺癌风险的关系。结果：2q35 rs13387042多态性位点基因型频率在乳腺癌和对照样本之间差异有统计学意义(P=0.017)；8q24 rs13281615多态性位点基因型频率在乳腺癌和对照样本之间差异无统计学意义(P=0.967)。Logistic回归分析结果显示，对于2q35 rs13387042位点，与GG相比，GA和GA+AA基因型携带者显著增加乳腺癌的患病风险(OR=1.793，95%CI：1.177～2.733，P=0.007；OR=1.691，95%CI：1.122～2.550， P=0.012)，而AA携带者与乳腺癌的患病风险无关(OR=0.572，95%CI：0.104～3.153，P=0.521)；与G等位基因相比，A等位基因显著增加乳腺癌的患病风险(OR=1.505，95%CI：1.033～2.193，P=0.033)。对于8q24 rs13281615位点，与AA相比，AG、GG和AG+GG基因型携带者与乳腺癌的患病风险无关(OR=0.992，95%CI：0.660～1.490，P=0.968；OR=1.047，95%CI：0.642～1.708，P=0.853；OR=1.007，95%CI：0.682～1.487， P=0.971)；与A等位基因相比，G等位基因不增加乳腺癌患病风险(OR=1.021，95%CI：0.809～1.288， P=0.863)。结论：本实验证实2q35 rs13387042多态性位点能够增加中国北方汉族绝经前妇女乳腺癌易感风险，而8q24 rs13281615多态性位点与中国北方汉族绝经前妇女乳腺癌易感性无明显相关性。
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