Case-control analysis of the <i>ERAP1</i> polymorphism rs30187 in Italian type 1 diabetes mellitus patients

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.

Genetic polymorphisms of Endoplasmic reticulum amino peptidase 1 (ERAP1) and Interferon lambda 4 (IFN-λ4) in Egyptian patients with type 1 diabetes mellitus

“…This can be explained by the phenomenon that different ethnic groups will carry alleles with different frequencies and genetic distributions. 19 Up to our knowledge this is the first study to determine IFN-λ-4 genotypes in T1DM. Genotype distribution and allelic frequencies of IFN-λ-4 were identical to those of the ERAP1 gene.…”