北京地区汉族女性人群SYK基因启动子区-803A>Trs290987单核苷酸多态性与乳腺癌易感性分析

目的 探讨脾酪氨酸激酶(spleen tyrosine kinase,SYK)基因启动子区-803A>T(rs290987)单核苷酸多态与汉族女性人群乳腺癌的相关性。方法 采用病例-对照研究,以聚合酶链反应(PCR)联合DNA直接测序法检测57例乳腺癌患者和60例与之年龄相匹配的健康对照者syk基因启动子区-803位点的基因型及等位基因频率。采用ELISA方法定量检测受试者血清SYK水平。结果 -803A>T多态T等位基因频率在乳腺癌组明显高于对照组(χ2=5.348,P=0.021)。与AA基因型相比(TA+TT)基因型可显著增加乳腺癌发病风险,OR值为2.87,95% CI=1.27～6.49。乳腺癌组血清SYK水平显著低于对照组(F=33.278,P<0.01)。结论北京地区汉族女性人群SYK基因-803位点基因型TA和TT是乳腺癌发病的危险因素。

Associations of SYK Promoter-803A >T(rs290987)Single Nucleotide Polymorphisms with Susceptibility to Breast Cancer of Han Female Population in Beijing Area

Abstract:Objective To evaluate the association of the SYK gene promoter -803A/T polymorphism and breast cancer susceptibility during Han descent female population in Beijing area.Methods In this case control study,genotype of SYK(A>T at -803,rs290987)was determinedby polymerase chain reaction combined with DNA direct sequencing in blood samples of 57 breast cancer cases and 60 age-matched healthy controls.They were all female.Genotype and allele frequency distributions of -803A/T were determined and analyzed.ELISA test was performed to detect the serum level of SYK in thetwo groups.Results The frequencies of the T allele andTA+TT genotypes of the -803A>T were found to be significantly higher in the breast cancer patients in contrast to the healthy individuals of the control group(χ2=5.348,P=0.021).Patients with the T allele(TA+TT)had a 2.87-fold risk of developing breast cancer compared with those with the A allele(AA)(OR=2.87; 95% CI=1.27～6.49).The test group had significantly decreased levelof SYK in serum compared to normal controls(F=33.278,P<0.01).Conclusion This study revealed that the genotype TA and TT of theSYK gene -803 loci of Han female population in the Beijing area are the riskfactors for the breast cancer.