Characterization of HLA Class II Alleles in Patients with Neuromyelitis Optica in Bogotá, Colombia (P13-5.008)

Abstract

<h3>Objective:</h3> Our objective was to characterize the human leukocyte antigen (HLA) class II alleles in patients with Neuromyelitis Optica (NMO) and a control population in Bogotá, Colombia. <h3>Background:</h3> NMO is a demyelinating disease of the central nervous system with a low prevalence in Latin America. International studies have found associations between the development of NMO and alleles of the HLA class II complex. However, to date, there are no studies in Colombia. <h3>Design/Methods:</h3> This case-control study used blood samples to isolate and purify genomic DNA. The SSP-PCR method was employed to determine if the HLA-DRB1 or HLA-DQB1 alleles were present. AQP4-IgG and MOG-IgG seropositivity was determined using the cell-based assay technique. The study population’s allele frequencies were analyzed, and differences between the groups were determined by bivariate and multivariate logistic regression analysis. <h3>Results:</h3> A total of 51 subjects were enrolled, 28 patients with NMO (mean age 42.5 ± 13.6 years; 79% females) and 23 healthy controls (mean age 31.3 ± 11 years; 74% females). HLA-DRB1*16 was present in 28.5% of cases and 0% of controls (odds ratio by the Agresti-Coull CI method [OR] = 19.48, 95% CI: 1.05 – 358.83, p=0.008) and HLA-DRB1*08 was present in 7.1% of the cases and 28% of controls (OR = 0.17, 95% CI: 0.03 – 0.95, p = 0.044). After the multivariate model, none of the alleles were statistically significant. <h3>Conclusions:</h3> The HLA-DRB1*16 allele could be a risk factor for the development of NMO in our population. Although it is a small cohort, these preliminary results are consistent with studies conducted in Brazil, Mexico, China, and Japan. Furthermore, it helps to build more solid literature on the genetic characterization of NMO in Latin America. <b>Disclosure:</b> Dr. Toro has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Watch Neurology . Dr. Gaitan Alfonso has nothing to disclose. Dr. Moutran Barroso has nothing to disclose. Helena Groot, 9922 has nothing to disclose. Dr. Rivera Perez has nothing to disclose. Thomas Medina has nothing to disclose. Ms. Rodriguez has nothing to disclose. Miss Serna has nothing to disclose. Dr. Cuellar Giraldo has nothing to disclose. Dr. Restrepo has nothing to disclose. Miss TORRES has nothing to disclose. Dr. Franco Ruiz has nothing to disclose. Fabián Cortés has nothing to disclose. Mr. León Tramontini has nothing to disclose. Diana Narváez, 9920 has nothing to disclose. Mrs. Lago has nothing to disclose. Ms. Marquez has nothing to disclose. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for BIIB. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Merck. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Novartis. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen.