2026-07-21T14:26:53Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/170352025-05-29T07:29:28Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927col_20.500.12105_16969

00925njm 22002777a 4500 dc Concha, Emilio G. de la author Cavanillas, María L. author Cénit, M. Carmen author Urcelay, Elena author Arroyo, Rafael author Fernández, Óscar author Álvarez-Cermeño, José C. author Leyva, Laura author Villar, Luisa M. author Núñez, Concepción author 2012-02-17 BACKGROUND: Multiple sclerosis (MS) is a multifactorial disease with a genetic basis. The strongest associations with the disease lie in the Human Leukocyte Antigen (HLA) region. However, except for the DRB1*15:01 allele, the main risk factor associated to MS so far, no consistent effect has been described for any other variant. One example is HLA-DRB1*03:01, with a heterogeneous effect across populations and studies. We postulate that those discrepancies could be due to differences in the diverse haplotypes bearing that allele. Thus, we aimed at studying the association of DRB1*03:01 with MS susceptibility considering this allele globally and stratified by haplotypes. We also evaluated the association with the presence of oligoclonal IgM bands against myelin lipids (OCMB) in cerebrospinal fluid. METHODS: Genotyping of HLA-B, -DRB1 and -DQA1 was performed in 1068 MS patients and 624 ethnically matched healthy controls. One hundred and thirty-nine MS patients were classified according to the presence (M+, 58 patients)/absence (M-, 81 patients) of OCMB. Comparisons between groups (MS patients vs. controls and M+ vs. M-) were performed with the chi-square test or the Fisher exact test. RESULTS: Association of DRB1*03:01 with MS susceptibility was observed but with different haplotypic contribution, being the ancestral haplotype (AH) 18.2 the one causing the highest risk. Comparisons between M+, M- and controls showed that the AH 18.2 was affecting only M+ individuals, conferring a risk similar to that caused by DRB1*15:01. CONCLUSIONS: The diverse DRB1*03:01-containing haplotypes contribute with different risk to MS susceptibility. The AH 18.2 causes the highest risk and affects only to individuals showing OCMB. 10.1371/journal.pone.0031018 1932-6203 PloS One http://hdl.handle.net/10668/913 22363536 http://hdl.handle.net/20.500.12105/17035 HLA-DRB1*03:01 antigen Antigeno HLA-DRB1*03:01 Estudios caso-control Estudios de asociación genética Predisposición genética a la enfermedad Cadenas HLA-DRB1 Haplotipos Humanos Inmunoglobulina M Esclerosis Múltiple Factores de riesgo DRB1*03:01 haplotypes: differential contribution to multiple sclerosis risk and specific association with the presence of intrathecal IgM bands.