GUT paper on coeliac disease in F1000Prime

A recent paper by the Wijmenga group has been selected for F1000Prime. It was recommended as being of special significance in its field by Faculty Member Piero Portincasa.

“Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants”

by Jihane Romanos, …Vinod Kumar, Gosia Trynka, Lude Franke, Agata Szperl, Javier Gutierrez-Achury, Cleo C van Diemen, Roan Kanninga, Soesma A Jankipersadsing, … Cisca Wijmenga, and the PreventCD Group.

Published in Gut, 2014 Mar;63(3):415-22. Open access full text. Epub 2013 May 23.

“In this paper, the authors highlight the importance of a more comprehensive genetic test for the diagnosis of celiac disease (CD). As CD occurs with a large variability in age at onset and clinical presentation, the improvement of genetic diagnosis is mandatory. Genetic testing of CD is represented by HLA-DQ2 and HLA-DQ8 screening, but HLA-DQ2 and HLA-DQ8 alleles have been found only in about 40% of the population. In this work, risk prediction of CD was evaluated by using 10, 26 and 57 single nucleotide polymorphisms (SNPs) in 2675 cases and 2815 controls. The new model based on 57 non-HLA variants combined with HLA testing was superior to those based on HLA only, HLA plus 10 SNPs and HLA plus 26 SNPs. The new model by Romanos et al. increases the sensitivity of genetic risk testing and appears to be of great interest, as it might stratify individuals into more accurate risk categories.”