| 周史思,陈丽平,周海仙.乳腺癌易感基因相互作用蛋白1基因功能区单核苷酸多态性与宫颈癌的相关性研究[J].浙江中西医结合杂志,2014,24(11): |
| 乳腺癌易感基因相互作用蛋白1基因功能区单核苷酸多态性与宫颈癌的相关性研究 |
| The association of the single nucleotide polymorphism in functional region of BRCA1-interacting protein 1 (BRIP1) with cervical cancer |
| 投稿时间：2014-03-31 修订日期：2014-06-18 |
| DOI： |
| 中文关键词: 宫颈癌 乳腺癌易感基因相互作用蛋白1基因 单核苷酸多态性 |
| 英文关键词:BRCA1-interacting protein 1 Cervix cancer Single nucleotide polymorphisms |
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| 中文摘要: |
| 目的 旨在探讨乳腺癌易感基因相互作用蛋白1基因(BRCA1-interacting protein 1,BRIP1)功能区5个单核苷酸多态性(single nucleotide polymorphism, SNP)位点与宫颈癌的相关性。方法 严格按照诊断标准,选取无亲缘关系宫颈癌患者309名(宫颈癌组)及健康体检者(正常对照组)315名提取基因组DNA,采用基质辅助激光解吸电离飞行时间质谱技术检测5个SNP的基因型,采用SPSS11.5及Haploview 4.2软件各基因型、等位基因及单倍型频率在病例及对照组中的差异。结果 BRIP1基因rs4986764(外显子18)及rs7213430(3"非翻译区)基因型及等位基因频率分布在宫颈癌组及正常对照组统计有显著性差异(p < 0.05)。宫颈癌组rs4986764位点C等位基因频率显著高于正常对照组(p = 0.036,OR=1.294,95%=1.017-1.647)；宫颈癌组rs7213430位点A等位基因频率显著高于正常对照组(p = 0.003,OR = 1.435, 95%CI = 1.133-1.818)。连锁不平衡分析发现一个单倍型(rs11079454 - rs7213430 - rs4986763)高度连锁(D">0.9),宫颈癌组T - A - C单倍型频率显著高于正常对照组(p = 0.018)。结论 BRIP1基因功能区rs4986764及rs7213430 SNP位点可能与宫颈癌有关,携带有rs4986764 C等位基因及rs7213430 A等位的个体可能更容易患宫颈癌。 |
| 英文摘要: |
| Objective In this study, we evaluate the association between the BRCA1-interacting protein 1 (BRIP1) 5 single nucleotide polymorphisms (SNP) and the risk of cervical cancer. Methods We examined the potential association between cervical cancer and five single nucleotide polymorphisms (SNPs, rs2048718, rs4986764, rs4986763, rs11079454, rs7213430) of the BRIP1 gene using the MassARRAY system. The participants enrolled in this study included 309 patients with cervical cancer and 315 healthy women as the healthy controls from a Chinese Han population. SPSS11.5 and Haploview 4.2 were emplyed. Results The results showed that rs4986764 (exon 18) and rs7213430 (3’UTR) were significantly associated with cervical cancer (P < 0.05). More frequence of rs4986764 C allele (p = 0.036,OR=1.294,95%=1.017-1.647)and rs7213430 A allele (p = 0.003,OR = 1.435, 95%CI = 1.133-1.818)were found in cervical cancer subjects. Furthermore, strong linkage disequilibrium (LD) was observed in one blocks (D’ > 0.9), and signi?cantly more T-A-C haplotypes (block 1) (P = 0.018) were found in the patients with cervical cancer. Conclusion These findings point to a role for the BRIP1 gene polymorphisms (rs4986764 and rs7213430) in cervical cancer in a Chinese Han population. The rs4986764 C allele and rs7213430 A allele may be risk of cervical cancer. |
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