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Bergara-Muguruza et al. J Transl Genet Genom 2023;7:213-229 Journal of Translational
DOI: 10.20517/jtgg.2023.14
Genetics and Genomics

Review Open Access

lncRNA involvement in immune-related diseases -
from SNP association to implication in pathogenesis

and therapeutic potential

1,2
Leire Bergara-Muguruza , Ainara Castellanos-Rubio 2,3,4,5 , Izortze Santin 1,2,4 , Ane Olazagoitia-Garmendia 1,2

1
Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa 48940, Spain.
2
BioBizkaia Health Research Institute, Barakaldo 48903, Spain.
3
Department of Genetics, Physical Antropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa
48940, Spain.
4
CIBER (Centro de Investigación Biomédica en Red) de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto
de Salud Carlos III, Madrid 28029, Spain.
5
IKERBASQUE, Basque Foundation for Science, Bilbao 48013, Spain.
Correspondence to: Dr. Ane Olazagoitia-Garmendia, Department of Biochemistry and Molecular Biology, University of the
Basque Country, Maria Goyri building 1.11, Barrio Sarriena sn, Leioa 40940, Spain. E-mail: ane.olazagoitia@ehu.eus
How to cite this article: Bergara-Muguruza L, Castellanos-Rubio A, Santin I, Olazagoitia-Garmendia A. lncRNA involvement in
immune-related diseases - from SNP association to implication in pathogenesis and therapeutic potential. J Transl Genet Genom
2023;7:213-229. https://dx.doi.org/10.20517/jtgg.2023.14

Received: 1 Jun 2023 First Decision: 13 Oct 2023 Revised: 3 Nov 2023 Accepted: 16 Nov 2023 Published: 27 Nov 2023

Academic Editor: Sanjay Gupta Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Development of new high throughput array-based techniques and, more recently, next-generation sequencing
(NGS) technologies have revolutionized our capability to accurately characterize single nucleotide polymorphisms
(SNPs) throughout the genome. These advances have facilitated large-scale genome-wide association studies
(GWAS), which have served as fundamental elements in establishing links between SNPs and the susceptibility to
several complex diseases, including those related to the immune system. Nevertheless, the molecular mechanisms
underlying the development of most of these disorders are still poorly defined. Decoding the functionality of SNPs
becomes increasingly challenging due to the predominant presence of these risk variants in non-coding regions of
the genome. Among them, long non-coding RNAs (lncRNAs) are enriched in disease-associated SNPs. lncRNAs
are involved in governing the control of gene expression both during transcription and at the post-transcriptional
level. The existence of SNPs within the sequences of lncRNAs has the potential to alter their expression, structure,
or function. This, in turn, can influence their regulatory roles and consequently contribute to the onset or
progression of various diseases. In this review, we describe the implication of SNPs located in lncRNAs in the

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
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