New research has revealed a potential biomarker of coeliac disease (CD). In the first Mendelian randomisation (MR) analysis of CD, researchers in Spain used public databases of expression quantitative trait loci (eQTL) and methylation QTL (mQTL) as exposures, and the largest CD genome-wide association study (GWAS) conducted to date as the outcome, in order to identify potential causal genes.
They identified UBE2L3, a ubiquitin ligase located in a CD-associated region. The expression of UBE2L3 was investigated in an independent dataset of peripheral blood mononuclear cells (PBMCs). Its expression was altered in CD patients on a gluten-free diet (GFD) compared to non-CD controls. The relative expression of UBE2L3 isoforms was found to predict CD with 100 per cent specificity and sensitivity.
Presenting the findings in the journal Human Molecular Genetics, the authors said the discovery could be important for the diagnosis of CD, particularly in individuals on self-imposed gluten-free diets.
“Our approach is less time consuming and more easily adaptable to a clinical setting since it could be implemented through a simple expression analysis. However, in case UBE2L3 is confirmed as a marker of CD in peripheral blood, it should always be used together with other determinations such as human leukocyte antigen (HLA) genotyping,” they said.