Characterization of HLA Class II Alleles in Patients with Neuromyelitis Optica in Bogotá, Colombia
Jaime Toro1, Jairo Gaitan Alfonso1, Habib Georges Moutran Barroso1, Helena Groot2, Juan Sebastian Rivera Perez1, Thomas Medina2, Daniela Rodriguez2, Laura Serna2, David Cuellar Giraldo1, Carolina Restrepo-Aristizabal3, Mariana Torres-Bustamante 3, Cesar Franco Ruiz3, Fabián Cortés4, Daniel León Tramontini2, Diana Narváez2, Juliana Lago2, Luisa Márquez2, Saul Reyes5
1Fundación Santa Fe de Bogotá, 2Universidad de los Andes, 3Fundación Instituto Neurológico de Colombia, 4Fundación Clínica Shaio, Bogotá, Colombia, 5Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London UK
Objective:
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.
Background:
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.
Design/Methods:
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.
Results:
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.
Conclusions:
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.