Case-control analysis of the ERAP1 polymorphism rs30187 in Italian Type 1 diabetes patients

of disorders affecting different organs and tis- sues whose incidence are increasing worldwide. New tools, such as genome-wide association studies, have provided evidence for new sus- ceptibility loci and candidate genes in the dis- ease process including common susceptibility genes involved in the immunological synapse and T cell activation. Close linkages have been found in a number of diseases, including anky- losing spondylitis, multiple sclerosis, Crohn’s di- sease and insulin-dependent diabetes mellitus (Type 1 diabetes mellitus). The evidence for some associations with Type 1 diabetes was previously found in the region containing 5q15/ERAP1 (en- doplasmic reticulum aminopeptidase 1) (rs30187, ARTS1). Our aim was to conduct the first case- control study to test the association between the rs30187 polymorphism of ERAP1 and the de- velopment of Type 1 diabetes mellitus in patients selected from continental Italy. All control sub- jects were matched for the sex, age, ethnic ori- gin and geographical area. Genotyping of the rs30187 polymorphism of ERAP1 was carried out by the allelic discrimination assay on DNA ex- tracted from whole blood. We did not observe a statistically significant prevalence of the rs30187 polymorphism of ERAP1 in our cohort of pa- tients than in controls suggesting a minor con- tribution of this gene to the pathogenesis of Type 1 diabetes mellitus in Italian patients.