Xu Lihua, Deng Jiang, Gong Lili, Chen Yajuan, Hu Gang
Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, Hubei, China.
Hubei No. 3 People's Hospital of Jianghan University, Wuhan, China.
Genet Res (Camb). 2025 Jul 3;2025:2340176. doi: 10.1155/genr/2340176. eCollection 2025.
A growing number of studies are exploring the association between HOTAIR rs920778 polymorphisms and cancer risk, but to date, there has been controversy and uncertainty. Preliminary evidence suggests that this polymorphism may influence cancer susceptibility, particularly in Asian populations and specific cancer types such as cervical cancer (CC) and breast cancer (BC). We therefore conducted an updated meta-analysis to accurately assess the association of the HOTAIR rs920778 polymorphism with cancer risk. Comprehensive literature searches were performed in PubMed, Embase, and Web of Science up to September 8, 2023. Inclusion criteria included case-control studies with allele frequency data for both cases and controls. A total of 29 case-control studies were selected for quantitative analysis. Crude odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using Stata software (Version 11) to evaluate the association between the rs920778 polymorphism and cancer risk. Heterogeneity and publication bias were assessed using chi-square tests, statistics, and funnel plots with Egger's test. Our analysis of the results found a significant association between the rs920778 polymorphism and cancer susceptibility. In Asian populations, all five genetic models of the rs920778 polymorphism have been shown to increase overall cancer susceptibility. At the same time, we performed stratified analyses based on cancer type and found that all genetic models revealed significantly increased susceptibility to CC in Asian populations. Conversely, the heterozygote model of rs920778 demonstrated significantly reduced susceptibility to BC, with consistent effects across racial groups. Our meta-analysis demonstrated that the HOTAIR rs920778 polymorphism may be a risk factor for cancer but may serve as a protective factor for BC. Future studies require larger sample sizes and gene function analysis, suggesting that the rs920778 polymorphism could serve as a genetic biomarker to guide targeted therapies or cancer screening.
越来越多的研究正在探索HOTAIR基因rs920778多态性与癌症风险之间的关联,但迄今为止,仍存在争议和不确定性。初步证据表明,这种多态性可能会影响癌症易感性,尤其是在亚洲人群以及特定癌症类型(如宫颈癌(CC)和乳腺癌(BC))中。因此,我们进行了一项更新的荟萃分析,以准确评估HOTAIR基因rs920778多态性与癌症风险之间的关联。截至2023年9月8日,我们在PubMed、Embase和Web of Science数据库中进行了全面的文献检索。纳入标准包括病例对照研究,且病例组和对照组均有等位基因频率数据。共选择了29项病例对照研究进行定量分析。使用Stata软件(版本11)计算粗比值比(OR)和95%置信区间(CI),以评估rs920778多态性与癌症风险之间的关联。使用卡方检验、 统计量以及带有Egger检验的漏斗图评估异质性和发表偏倚。我们对结果的分析发现,rs920778多态性与癌症易感性之间存在显著关联。在亚洲人群中,rs920778多态性的所有五种遗传模型均显示会增加总体癌症易感性。同时,我们根据癌症类型进行了分层分析,发现所有遗传模型均显示亚洲人群对CC的易感性显著增加。相反,rs920778的杂合子模型显示对BC的易感性显著降低,且在不同种族群体中效果一致。我们的荟萃分析表明,HOTAIR基因rs920778多态性可能是癌症的一个危险因素,但可能是BC的一个保护因素。未来的研究需要更大的样本量和基因功能分析,这表明rs920778多态性可作为一种遗传生物标志物来指导靶向治疗或癌症筛查。