Abstract
Background: Behcet Syndrome (BS) is a chronic vasculitis characterized by a wide spectrum of clinical manifestations, including the rare nervous system involvement, known as “Neuro-BS” (NBS) [1-3]. BS inflammatory features were studied in several genetics studies with focus on single nucleotide polymorphisms (SNPs) of genes involved in inflammation and immune response [4,5]. A very few papers assessed the mutational state of NBS patients and this characterization was limited to a small number of SNPs [3]. Objectives: The aim of this study was to analyse the genetic background of a homogenous group of Italian NBS (parenchymal form) to genotype some SNPs of inflammation-related genes. Methods: NBS patients were extracted from our database and retrospectively studied. Molecular characterization was performed for a subset of 20 NBS patients and 42 sex-matched healthy controls (HC) via: a) bioinformatics consultation for SNPs selection and primer design; b) SNPs genotyping: DNA extraction, PCR amplification, direct sequencing; c) DNA variant analysis using similarity search tool and specific software. In a second phase of analysis, a group of 30 BS patients without neurological involvement (no-NBS) was also genotyped. The odds ratio (OR) was calculated to assess the strength of BS association for each genotype. Results: NBS patients subset was formed by 14 males and 6 females with mean age equal to 44.20 (±10.73) years. Six SNPs were considered eligible for molecular analysis and genotyped. Our results underlined the major role of ERAP1 rs17482078 (Table 1a). rs17482078 GG genotype frequency was higher in controls (p-value Conclusion: Our results reported for the first time the genotype distribution of several susceptibility loci in a group of Italian NBS patients. The data suggest a possible association between ERAP1 rs17482078 and NBS. Larger analyses were required to verify our preliminary findings.
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