Sequencing of snoRNAs from multiple sclerosis association regions and characterization of SNPs./Esklerosi anizkoitzaren asoziazio guneetako snoRNAen sekuentziazioa eta SNPen karakterizazioa.

Abstract

[EN] Multiple sclerosis (MS) is a common inflammatory and neurodegenerative disease that causes neurological disability. Transcriptome regulation has been seen affected in MS patients’ blood cells. Recently, non-coding RNAs (ncRNAs) have emerged as prominent transcriptome regulators, and in turn, they could play an important role in MS pathogenesis. From this point of view, the multiple sclerosis group in IIS BioDonostia has already analyzed the expression of protein-coding RNAs and some ncRNAs, especially miRNAs, in search of putative MS-related genes. These studies highlighted some possible candidates, amongst others, the snoRNA SNORA40. Thus, the aim of this work is to analyze snoRNAs located in MS-associated regions of the genome and further investigate the possible MS relationship of SNORA40. For that purpose, after detecting the candidate snoRNAs and optimizing the conditions for amplifying them, we did the sequencing of 10 snoRNAs in 14 siblings from 7 Gipuzkoan families and the sequencing of SNORA40 in 47 samples previously included in a RNA expression study. That way, we could identify both already described and novel genetic variants in some of the snoRNAs, but could not relate those variants to the disease as to our samples, ruling out a possible Mendelian inheritance way of those genetic variants.