Genetic and epigenetic aspects of non-coding RNAs in physiology and disease

Non-coding RNAs (ncRNAs), as the name itself suggests, are transcripts without protein-coding features. Nevertheless, these untranslated molecules can present important regulatory roles, due to their complementarity with certain DNA and/or RNA sequences. Among the main classes of ncRNAs with regulatory functions, microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) stand out as the most studied ones in the context of pathological processes. miRNAs are known to be translational repressors (mainly by binding to and destabilizing their target mRNAs), while lncRNAs are involved in distinct pre- and post-transcriptional mechanisms. Such regulatory abilities can be disturbed by alterations in the ncRNA structure and expression, as a result of variations in their genetic sequences and epigenetic marks, thus potentially disrupting homeostatic mechanisms and contributing to pathological processes. In this way, studies comprising genetic and expression analyses of ncRNAs can reveal previously unknown mechanisms underlying pathogenic pathways and molecular factors of a given phenotype.



Considering their regulatory features and tissue-specific expression patterns, many ncRNA genes are strictly regulated. Variations in their genetic sequences (such as single nucleotide polymorphisms and insertions-deletions) and/or epigenetic features (such as methylation status) could influence ncRNA gene expression and/or RNA secondary structure, consequently interfering with the expression, availability and/or function of their molecular targets. Indeed, such ncRNA alterations have been increasingly investigated in diseases, resulting in associations and/or functional consequences that suggest these molecules as potential biomarkers and/or therapeutic targets. Despite the increasing interest, much is still needed to better understand the world of ncRNAs and their functional impact in depth. In this research topic, we aim to publish high quality studies comprising relevant information about genetic and functional aspects of ncRNAs.



This research topic focuses on experimental studies aiming to explore the genetic and epigenetic aspects of ncRNAs (such as lncRNAs, miRNAs and other RNAs with regulatory features) in physiological and pathological conditions. The main themes are:

• Genetic variability of ncRNAs, including case-control/epidemiological association studies from large-scale or gene-specific genotyping data.

• eQTL, sQTL and other regulatory effects of ncRNA genetic variants.

• Expression analyses of ncRNAs.

• RNA interactions and competing-endogenous RNAs.

• ncRNAs in epigenetics.

• ncRNAs in developmental stages and physiological conditions.

• Molecular structure of ncRNAs and its functional impact.

• Genetic studies with translational purposes for ncRNAs in diseases.

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