AB0013 GENOMIC PROFILING OF INFLAMMATION-RELATED GENES IN NEURO-BEHçET SYNDROME: A PRELIMINARY ITALIAN STUDY
Authors: Maria Carmela Padula, Pietro Leccese, Nancy Lascaro, Teresa Carbone, Antonina Rita Limongi, Rosa Paola Radice, Angela Padula, Salvatore D’angelo, Giuseppe Martelli
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Behçet 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]. <h3>Objectives:</h3> 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. <h3>Methods:</h3> 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. <h3>Results:</h3> 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 <i>ERAP1</i> rs17482078 (Table 1a). rs17482078 GG genotype frequency was higher in controls (p-value&lt;0.01), while GA genotype frequency was lower in the same group (p-value&lt;0.05). rs17482078 AA genotype was absent in control group, while its frequency was equal to 10% for the patients (p-value&lt;0.05). rs17482078 GA frequency was higher in NBS patients compared with no-NBS patients (p-value&lt;0.01) (Table 1b). No statistically significant differences were found for other SNPs of <i>ERAP1</i> neither for <i>IL-10</i> and <i>STAT4</i> polymorphisms when NBS patients and controls were compared. <h3>Conclusion:</h3> 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 <i>ERAP1</i> rs17482078 and NBS. Larger analyses were required to verify our preliminary findings. <h3>References</h3> [1] Saip S, et al. 2014. Handb Clin Neurol;121:1703-23; [2] Noel N, et al. 2014. Rev Med Interne;35(2):112-20. [3] Gheita TA, et al. 2015. Joint Bone Spine;82(3):213-5. [4] Gul A. 2015. Current Opinion in Rheumatology;26:56-63. [5] Takeuchi, et al. 2015. J Autoimmun. 2015;64:137-148. <h3>Acknowledgement:</h3> Many thanks to Professor Olivieri for his "heredity" <h3>Disclosure of Interests:</h3> Maria Carmela Padula: None declared, Pietro Leccese: None declared, Nancy Lascaro: None declared, Teresa Carbone: None declared, Antonina Rita Limongi: None declared, Rosa Paola Radice: None declared, Angela Padula Speakers bureau: Lilly Italia EMS, Salvatore D'Angelo: None declared, Giuseppe Martelli: None declared