Department of Genetics, Federal University of Parana, Curitiba, PR, Brazil.
J Gene Med. 2020 Dec;22(12):e3271. doi: 10.1002/jgm.3271. Epub 2020 Oct 12.
Long non-coding RNAs (lncRNAs) have been the target of considerable attention for their roles in many biological processes. Only a small portion of lncRNAs are functionally characterized, and several approaches have been proposed for investigating the roles of these molecules, including how polymorphisms in lncRNA genomic sites may interfere with their function. Allele frequency variation in single nucleotide polymorphisms (SNPs), for example, has been associated with several diseases, including breast cancer (BC), the most common type of cancer in women.
In the present study, we performed a systematic review of lncRNA SNPs associated with BC and a meta-analysis of some lncRNA SNPs. We found 31 SNPs mapped in 12 lncRNAs associated with BC in 28 case-control studies.
Our meta-analysis showed an insignificant difference between the SNPs rs217727, rs3741219, rs2107425 and rs2839698 on H19, as well as rs920778, rs1899663, rs12826786 and rs4759314 on HOTAIR, and BC susceptibility.
The present analysis recognized the importance of extensive association studies, including different populations, and further evaluation of potential functional effects caused by lncRNA SNPs. Nevertheless, genetic variants such as SNPs in lncRNAs may play many other essential roles, although this field is still under explored.
长链非编码 RNA(lncRNA)在许多生物过程中发挥作用,引起了相当多的关注。只有一小部分 lncRNA 具有功能特征,并且已经提出了几种研究这些分子作用的方法,包括 lncRNA 基因组位点的多态性如何干扰其功能。例如,单核苷酸多态性(SNP)中的等位基因频率变化与包括乳腺癌(BC)在内的几种疾病有关,BC 是女性最常见的癌症类型。
在本研究中,我们对与 BC 相关的 lncRNA SNP 进行了系统综述和一些 lncRNA SNP 的荟萃分析。我们在 28 项病例对照研究中发现了 12 个 lncRNA 中与 BC 相关的 31 个 SNP。
我们的荟萃分析显示,H19 上的 rs217727、rs3741219、rs2107425 和 rs2839698 以及 HOTAIR 上的 rs920778、rs1899663、rs12826786 和 rs4759314 等 SNP 与 BC 易感性之间无显著差异。
本分析认识到需要进行广泛的关联研究,包括不同人群,并进一步评估 lncRNA SNP 引起的潜在功能影响。然而,尽管这一领域仍在探索之中,但遗传变异,如 lncRNA 中的 SNP,可能发挥着许多其他重要作用。