Gaixotasun autoimmuneei asoziaturiko RGS1 eremuko lncRNA baten karakterizazio funtzionala

Abstract

Genome-wide association studies (GWAS) eta RNA sequencing (RNAseq) teknologiei esker gaixotasun autoimmuneekin lotutako gene eta mekanismo ugari aurkitu badira ere, asoziatutako aldaera (Single Nucleotide Polymorphism edo SNP) gehienak eremu ez kodetzailetan kokatzen direla ikusi da. Azken aldian RNA ez kodetzaile luzeek (lncRNA) zenbait prozesu biologikoetan duten garrantzia azpimarratu da eta gaixotasun askoren garapenarekin erlazionatu dira, gaixotasun autoimmuneak kasu. Lan honen helburua RGS1 eremuan dagoen gaixotasun autoimmuneei asoziaturiko rs2816316 SNParen karakterizazio funtzionala egitea izan da. Gure emaitzen arabera, SNParen inguruan dagoen eremuak RGS1 genearen erregulazioan eragina du bertan aurkitzen den lncRNA nuklear baten bitartez.

Genome-wide association studies (GWAS) and RNA sequencing technology (RNAseq) have helped in the detection of genes and genetic mechanisms involved in autoimmune diseases. However, the majority of associated variants reside in non-coding regions, which are mainly functionally uncharacterized. New evidences indicate that long non-coding RNAs (lncRNAs) play crucial roles in various biological processes and they have emerged as key regulatory molecules involved in the development of a wide range of diseases, including autoimmune disorders. The aim of this study was to functionally characterize the autoimmune disease associated rs2816316 SNP located in RGS1 region. Our results suggest that the region around rs2816316 is involved in RGS1 regulation, probably through a nearby nuclear lncRNA.