Association of the genetic polymorphisms of NFKB1 with susceptibility to ovarian cancer
Association of the genetic polymorphisms of NFKB1 with susceptibility to ovarian cancer
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DOI：
10.4238/2015.july.27.15
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发表时间：
2015-01-01
影响因子：
0.4
通讯作者：
Liang, H. B.
中科院分区：
文献类型：
--
作者：
Chen, L. P.;Cai, P. S.;Liang, H. B.
核因子-kappaB是一种可被多种刺激激活的转录因子，与多种癌症的发病机制有关。人类NFKB1基因-94插入/缺失ATTG(Rs28362491)功能多态与多种癌症的风险增加有关。然而，只有一项研究报告rs28362491与卵巢癌显著相关。本研究的目的是分析中国人群中NFKB1基因的单核苷酸多态(SNPs)和单倍型与卵巢癌风险的关系。我们使用MassARRAY系统检测了NFKB1基因的15个SNP(rs28362491、rs3774932、rs1598856、rs230531、rs230530、rs230528、rs230521、rs230498、rs230539、rs1005819、rs3774956、rs4648055、rs4648068、rs3774964、rs3774968)与卵巢癌之间的潜在关联。参与者包括411名卵巢癌患者和438名健康对照。结果表明，卵巢癌患者rs28362491(启动子区域)、rs230521(内含子4)和rs4648068(内含子12)等位基因或基因型频率与正常对照组有显著差异。在四个区块(D‘>；0.9)中观察到强连锁不平衡。卵巢癌患者中A-C(块2：rs230528-rs230521)单倍型(经Bonferroni校正后P=0.0003)和G-A-A(块4：rs4648068-rs3774964-rs3774968)单倍型(P=0.021)。这些发现表明NFKB1基因多态性在中国汉族人群卵巢癌患者中的作用，并可能为未来卵巢癌的遗传学或生物学研究提供信息。
Nuclear factor-kappa B (NF-kappa B), a transcription factor that is activated by various stimuli, is associated with the pathogenesis of several cancers. One functional polymorphism, -94 insertion/deletion ATTG (rs28362491), in the human NFKB1 gene (one member of the NF-kappa B gene family) is associated with increased risk of various cancers. However, only one study has reported that rs28362491 is significantly associated with ovarian cancer. The aim of this study was to analyze the association between single nucleotide polymorphisms (SNPs) and haplotypes in the NFKB1 gene and the risk of ovarian cancer in a Chinese population. We examined the potential association between ovarian cancer and 15 SNPs (rs28362491, rs3774932, rs1598856, rs230531, rs230530, rs230528, rs230521, rs230498, rs230539, rs1005819, rs3774956, rs4648055, rs4648068, rs3774964, rs3774968) of the NFKB1 gene using the MassARRAY system. Participants included 411 patients with ovarian cancer and 438 healthy controls. The results showed that the allelic or genotypic frequencies of three polymorphisms, including rs28362491 (promoter region), rs230521 (intron 4), and rs4648068 (intron 12), in the patients with ovarian cancer, were significantly different from those in the healthy controls. Strong linkage disequilibrium was observed in four blocks (D' > 0.9). Significantly more A-C (block 2: rs230528-rs230521) haplotypes (P = 0.0003 after Bonferroni's corrections) and G-A-A (block 4: rs4648068-rs3774964-rs3774968) haplotypes (P = 0.021) were found in the patients with ovarian cancer. These findings point to a role of the NFKB1 polymorphism in patients with ovarian cancer among a Chinese Han population, and may be informative for future genetic or biological studies on ovarian cancer.