目的:研究探讨TNRC9基因rs3803662和FGFR2基因rs17102287单核苷酸多态性(SNP)及两SNP连锁与湖北地区汉族妇女乳腺癌易感性的关系。方法:抽取汉族510例乳腺癌患者和550例健康妇女外周血,分离淋巴细胞,抽提基因组DNA,检测TNRC9rs3803662和FGFR2rs17102287的基因多态性,计算基因型和等位基因频率,研究各基因型以及基因SNP连锁之间对乳腺癌风险的影响。结果:TNRC9基因SNP位点rs3803662的C/C、C/T和T/T基因型频率在病例组和对照组分别为13.0%、46.4%、40.6%和7.3%、52.1%、40.6%,其基因型频率相比差异有统计学意义,χ2=9.40,P=0.043。而等位基因频率两组相比差异均无统计学意义;FGFR2基因SNP位点rs17102287的C/C、C/T和T/T基因型频率在病例组和对照组中差异无统计学意义;等位基因频率两组相比差异无统计学意义。两基因连锁分析D′=0.087,r2=0.085,没有明显连锁不平衡现。结论:TNRC9基因rs3803662多态性与汉族妇女乳腺癌易感性有关,FGFR2基因rs17102287多态性及其与TNRC9基因rs3803662单倍体连锁与湖北地区汉族人群妇女乳腺癌易感性无相关性。 OBJECTIVE: To study the relationship between SNP rs35803662, rs17102287 SNP and the linkage of two SNPs to susceptibility to breast cancer in Han women in Hubei Province. Methods: Peripheral blood was collected from 510 breast cancer patients and 550 healthy women in Han nationality. Lymphocytes were isolated and genomic DNA was extracted. The gene polymorphisms of TNRC9rs3803662 and FGFR2rs17102287 were detected. The genotype and allele frequencies were calculated. Effect of genetic SNP linkage on breast cancer risk. Results: The frequencies of C / C, C / T and T / T genotypes of rs3803662 in SNRC9 gene were 13.0%, 46.4%, 40.6% and 7.3%, 52.1% and 40.6% The difference of genotype frequency was statistically significant, χ2 = 9.40, P = 0.043. However, there was no significant difference in allele frequencies between the two groups. The frequency of C / C, C / T and T / T genotypes of SNP rs17102287 in FGFR2 gene was not significantly different between cases and controls. There was no significant difference in allele frequency between the two groups. Two gene linkage analysis D ’= 0.087, r2 = 0.085, there is no obvious linkage disequilibrium. Conclusion: The rs3803662 polymorphism of TNRC9 gene is associated with the susceptibility of breast cancer in Han women. The rs17102287 polymorphism of FGFR2 gene and the haplotype linkage of rsRC803662 with TNRC9 gene have no correlation with the susceptibility to breast cancer in Han population of Hubei Province.