Unit:
Faculty of MedicineLibrary of the School of Health Sciences
Author:
Zacharopoulou Eirini
Dissertation committee:
Βεζάκης Αντώνιος, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ, Επιβλέπων
Γαζούλη Μαρία, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Καραμανώλης Γεώργιος, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Δάφνιος Νικόλαος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Γκιόκας Γεώργιος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Βλαχογιαννάκος Ιωάννης, Αναπληρωτής Καθηγητής, Ιατρική Σχολή ΕΚΠΑ
Παπακωνσταντίνου Ιωάννης, Αναπληρωτής Καθηγητής Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Η συμβολή των μεγάλων μη-κωδικών (long non-coding) RNAs στην αιτιοπαθογένεια των ΙΦΝΕ
Translated title:
The contribution of long non-coding RNAs in the pathogenesis of Inflammatory Bowel Diseases
Summary:
A number of Genome Wide Association Studies (GWAS) indicates hundreds of polymorphisms associated with Inflammatory Bowel Disease (IBD) risk, such as Crohn’s disease (CD) and ulcerative colitis (UC). In recent years, it has been shown that large non-coding RNA transcripts (LncRNAs) appear to have a regulatory role by altering the expression levels of genes causing alternative splicing or affecting their secondary structure in various diseases, including IBD.
However, the pathogenesis of the IBD remains unclear so far and the there is scarce data about the role of lncRNAs in these diseases.
Thus, we aimed to evaluate the correlation between polymorphisms at lncRNAs and the
pathophysiology of IBD in Greek population. Genotyping of rs1476514, rs3757247 and rs597325 single nucleotide polymorphisms (SNPs) was carried out in a population-based case-control study including 242 patients with NC, 185 with EC and 220 healthy controls.
According the results, the frequency of allele A of rs1476514, appears to prevail in healthy
population. As far as rs3757247 is concerned, the frequency of G allele is higher in healthy controls in comparison to UC whereas all samples tested for rs597325 were found heterozygous.
In conclusion, the understanding of the mechanisms of IBD presentation is limited so far and the etiology is basically still unknown. However, as accumulating evidence suggest that there is a correlation between selected lncRNA SNPs and IBDs, larger studies are needed in order to confirm our results and research further the role of dysregulated lncRNA polymorphisms in IBD pathogenesis.
Main subject category:
Health Sciences
Keywords:
Inflammatory bowel diseases, IBD, Crohn's disease, Ulcerative colitis, Long non-coding RNAs, Biomarkers
Number of references:
257
