FOXC2 基因功能性多态性与中国人群上皮性卵巢癌易感性的关系。
Functional polymorphisms in FOXC2 gene and Epithelial ovarian Cancer susceptibility in Chinese population.
机构信息
Department of Pathology, Third Xiangya Hospital,Central South University, Changsha, 410013, Hunan, China.
Department of Endocrinology, The First Hospital of Changsha, Changsha, Hunan, China.
出版信息
J Ovarian Res. 2020 Mar 28;13(1):34. doi: 10.1186/s13048-020-00634-7.
BACKGROUND
Epithelial ovarian cancer (EOC) is highly lethal gynecological cancer. Forkhead Box Protein C2 (FOXC2) promotes occurrence and development of various malignant tumors. The present study is aimed at exploring the correlation between the polymorphism of FOXC2 and epithelial ovarian cancer susceptibility in Chinese Han population.
METHODS
A case-control design was used to verify the association between FOXC2 polymorphisms and epithelial ovarian cancer. The genotyping was performed using Taqman® SNP Genotyping kit by qRT-PCR. The genetic variants including rs3751794 C > T, rs1035550 A > G, rs4843163 C > G and rs4843396 C > T in FOXC2 gene were analyzed. The strength of the associations was detected using odds ratios and 95% confidence intervals. Stratification analyses showed the association between the FOXC2 gene polymorphisms rs3751794 C > T, rs4843163 C > G and rs4843396 C > T with epithelial ovarian cancer susceptibility in terms of age, metastasis status, clinical stage, pathological grade, pregnant times, pausimenia, and the expression of ER, PR, wild p53 and mutant p53.
RESULTS
Rs3751794 C > T (P = 0.0016), rs4843163 C > G (P < 0.0001) and rs4843396 C > T (P < 0.0001) were significantly associated with increased epithelial ovarian cancer risk. In stratification analyses,rs3751794 C > T, was identified to be dominant in no metastasis patients, clinical stage 4 group, middle grade pathological stage, pregnant time over 3 patients, post-menopause women, strong wild type p53 expression; rs4843163 C > G was dominant in high grade clinical stage, high grade pathological stage, post-menopause women, strong ER expression group and no mutant p53 expression group; rs4843396 C > T was dominant in high grade clinical stage, high grade pathological stage, strong ER expression group. The rs1035550 A > G was not related to epithelial ovarian cancer susceptibility.
CONCLUSIONS
The results of the current study verified that FOXC2 gene polymorphisms were associated with increased epithelial ovarian cancer risk and suggested that FOXC2 gene polymorphisms might be a potential biomarker for epithelial ovarian cancer susceptibility.
背景
上皮性卵巢癌（EOC）是一种致命的妇科癌症。叉头框蛋白 C2（FOXC2）促进多种恶性肿瘤的发生和发展。本研究旨在探讨 FOXC2 多态性与中国汉族人群上皮性卵巢癌易感性的相关性。
方法
采用病例对照设计验证 FOXC2 多态性与上皮性卵巢癌的相关性。采用 Taqman®SNP Genotyping 试剂盒通过 qRT-PCR 进行基因分型。分析 FOXC2 基因中的 rs3751794C>T、rs1035550A>G、rs4843163C>G 和 rs4843396C>T 等遗传变异。使用比值比（OR）和 95%置信区间（CI）检测关联的强度。分层分析显示，FOXC2 基因多态性 rs3751794C>T、rs4843163C>G 和 rs4843396C>T 与上皮性卵巢癌易感性的相关性与年龄、转移状态、临床分期、病理分级、妊娠次数、绝经状态、ER、PR、野生型 p53 和突变型 p53 的表达有关。
结果
rs3751794C>T（P=0.0016）、rs4843163C>G（P<0.0001）和 rs4843396C>T（P<0.0001）与上皮性卵巢癌风险增加显著相关。在分层分析中，rs3751794C>T 被确定为无转移患者、临床分期 4 组、中等级病理分期、妊娠时间超过 3 次、绝经后妇女、野生型 p53 表达强的优势基因型；rs4843163C>G 为高级临床分期、高级病理分期、绝经后妇女、强 ER 表达组和无突变型 p53 表达组的优势基因型；rs4843396C>T 为高级临床分期、高级病理分级、强 ER 表达组的优势基因型。rs1035550A>G 与上皮性卵巢癌易感性无关。
结论
本研究结果验证了 FOXC2 基因多态性与上皮性卵巢癌风险增加相关，并提示 FOXC2 基因多态性可能是上皮性卵巢癌易感性的潜在生物标志物。
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