Assessment of new method to typing HLA in celiac disease [Valutazione di un nuovo metodo per la tipizzazione HLA nella malattia celiaca]

Summary Background. Celiac disease (CD) is a multifactorial disorder characterized by intolerance to gluten and associated to genetic predisposition, mainly with Human Leucocyte Antigens (HLA) class II genes. In the complex pathologies, genetic tests are predictive of susceptibility, but they aren't diagnostic. However, its determination can be helpful in several cases, for example, refractory celiac disease or in risk groups, as first-degree relatives of patients with celiac disease. Typing HLA pattern have several limits: elevated cost, execution time too long, difficult interpretation of results. Moreover, genetic tests are limited to specialized laboratories. In this study we have assessed the performance of two tests: the Celiac Gene Screen and the Celiac Gene Typing (BioDiagene, Palermo, Italy). The two tests are compared with the Eu-Gen Risk Eurospital kit (Trieste, Italy). Methods.We have analyzed 95 subjects, 7 of these presented CD. The Celiac Gene Screen is a test for identification of samples susceptible to CD, but it does not discriminate the DQ2 and DQ8 alleles, independently homozygosis or heterozygosis status. The Celiac Gene Typing is a method for the detection of HLA class II genotype associated with CD. For each sample analyzed, individual alleles are detected by the kit and the corresponding serologic haplotype. Celiac Gene Typing identifies the presence of the alleles that codify for the DQ2 and DQ8 heterodimers that determine the risk of developing CD. Results. We have obtained 100% concordance between two BioDiagene tests and Eurospital test. Conclusions. This study has underlined excellent performances of two methods. Furthermore, the use of Celiac Gene Screen, to low cost, could be modify diagnostic laboratory flow-chart proposed until now, and it become a test of first level, at least in asymptomatic subjects, but with elevated risk conditions to develop the CD and, even, represent a screening test of population. © Springer-Verlag Italia 2013.

In questo studio sono state valutate le performance di due test: il Celiac Gene Screen e il Celiac Gene Typing, proposti da BioDiagene (Palermo, Italia). I due test sono stati comparati con il test per HLA DQ2/DQ8 della Eurospital (Trieste, Italia). Metodi. Lo studio è stato eseguito su 95 pazienti, di cui 7 con diagnosi di MC. Il Celiac Gene Screen è un test genetico rapido e a basso costo che permette di definire se nel campione in esame è presente uno degli alleli DQ2 o DQ8 indipendentemente dallo stato di omozigosi o eterozigosi. Il secondo metodo è invece in grado di determinare nello specifico il genotipo HLA, permettendo la stratificazione del rischio genetico per MC. Risultati. È stata ottenuta una concordanza del 100% sia fra i due test BioDiagene sia rispetto al test Eurospital. Conclusioni. Questo studio ha evidenziato le ottime performance dei due metodi.