鉴定和表达分析乳腺癌相关的 mA-SNPs。
identification and expression analysis of breast cancer-related mA-SNPs.
机构信息
BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU. Postal code: 01006. Vitoria-Gasteiz, Araba, Spain.
Department of Zoology and Animal Biology. University of the Basque Country (UPV/EHU). Postal code: 48940. Leioa, Bizkaia, Spain.
出版信息
Epigenetics. 2022 Dec;17(13):2144-2156. doi: 10.1080/15592294.2022.2111137. Epub 2022 Aug 29.
Research on mA-associated SNPs (mA-SNPs) has emerged recently due to their possible critical roles in many key biological processes. In this sense, several investigations have identified mA-SNPs in different diseases. In order to gain a more complete understanding of the role that mA-SNPs can play in breast cancer, we performed an analysis to identify the mA-SNPs associated with breast cancer and to evaluate their possible effects. For this purpose, we downloaded SNPs related to breast cancer and a list of mA-SNPs from public databases in order to identify which ones appear in both. Subsequently, we assessed the identified mA-SNPs by expression quantitative trait loci (eQTL) analysis and differential gene expression analysis. We genotyped the mA-SNPs found in the analysis in 35 patients with breast cancer, and we carried out a gene expression analysis experimentally on those that showed differences. Our results identified 981 mA-SNPs related to breast cancer. Four mA-SNPs showed an eQTL effect and only three were in genes that presented an altered gene expression. When the three mA-SNPs were evaluated in the tissue sample of our breast cancer patients, only the mA-SNP rs76563149 located in gene presented differences in allele frequencies and a low gene expression in breast cancer tissues, especially in luminal B HER2+ subtype. Future investigations of these mA-SNPs should expand the study in different ethnic groups and increase the sample sizes to test their association with breast cancer and elucidate their molecular function.
m6A 相关单核苷酸多态性(mA-SNPs)的研究最近出现,因为它们可能在许多关键的生物学过程中发挥关键作用。在这个意义上,已经有几项研究在不同的疾病中鉴定出了 mA-SNPs。为了更全面地了解 mA-SNPs 在乳腺癌中可能发挥的作用,我们进行了分析,以鉴定与乳腺癌相关的 mA-SNPs,并评估它们可能的影响。为此,我们从公共数据库下载了与乳腺癌相关的 SNPs 和 mA-SNPs 列表,以确定哪些 SNPs 同时出现在这两个列表中。随后,我们通过表达数量性状基因座(eQTL)分析和差异基因表达分析来评估鉴定出的 mA-SNPs。我们对 分析中发现的 mA-SNPs 在 35 名乳腺癌患者中进行了基因分型,并对显示差异的 mA-SNPs 进行了实验基因表达分析。我们的结果鉴定出了 981 个与乳腺癌相关的 mA-SNPs。四个 mA-SNPs 显示出 eQTL 效应,只有三个位于基因中,这些基因的表达发生了改变。当我们在乳腺癌患者的组织样本中评估这三个 mA-SNPs 时,只有位于 基因中的 mA-SNP rs76563149 在等位基因频率和乳腺癌组织中的低基因表达方面存在差异,特别是在腔 B HER2+ 亚型中。未来对这些 mA-SNPs 的研究应该在不同的种族群体中扩大研究,并增加样本量以测试它们与乳腺癌的关联,并阐明它们的分子功能。