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• TITLE: Case-control analysis of the ERAP1 polymorphism rs30187 in Italian type 1 diabetes mellitus patients

  AUTHORS: Elena Gianchecchi, Antonino Crinò, Alessia Palma, Rosa Luciano, Valentina Perri, Doriana Fruci, Marco Cappa, Alessandra Fierabracci

  KEYWORDS: Autoimmunity; Case Control Study; Endoplasmic Reticulum Aminopeptidase 1; Insulin-Dependent Diabetes Mellitus; Single Nucleotide Polymorphism

  JOURNAL NAME: Health, Vol.5 No.12, December 30, 2013

  ABSTRACT: Autoimmune diseases are a heterogeneous group of disorders affecting different organs and tissues whose incidence are increasing worldwide. New tools, such as genome-wide association studies, have provided evidence for new susceptibility loci and candidate genes in the disease 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 ankylosing spondylitis, multiple sclerosis, Crohn’s disease 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 (endoplasmic reticulum aminopeptidase 1) (rs30187, ARTS1). Our aim was to conduct the first casecontrol study to test the association between the rs30187 polymorphism of ERAP1 and the development of Type 1 diabetes mellitus in patients selected from continental Italy. All control subjects were matched for the sex, age, ethnic origin and geographical area. Genotyping of the rs30187 polymorphism of ERAP1 was carried out by the allelic discrimination assay on DNA extracted from whole blood. We did not observe a statistically significant prevalence of the rs30187 polymorphism of ERAP1 in our cohort of patients than in controls suggesting a minor contribution of this gene to the pathogenesis of Type 1 diabetes mellitus in Italian patients.