dc.contributor.author | Irizar, Haritz | |
dc.contributor.author | Muñoz Culla, Maider | |
dc.contributor.author | Zuriarrain, Olaia | |
dc.contributor.author | Goyenechea Soto, Estibaliz | |
dc.contributor.author | Castillo Triviño, Tamara | |
dc.contributor.author | Prada, Alvaro | |
dc.contributor.author | Saenz-Cuesta, Matias | |
dc.contributor.author | De Juan, Dolores | |
dc.contributor.author | López de Munain Arregui, Adolfo José | |
dc.contributor.author | Olascoaga, Javier | |
dc.contributor.author | Otaegui Bichot, David | |
dc.date.accessioned | 2024-02-08T09:34:47Z | |
dc.date.available | 2024-02-08T09:34:47Z | |
dc.date.issued | 2011-11-29 | |
dc.identifier.citation | Multiple Sclerosis Journal 18(5) : 569-577 (2012) | es_ES |
dc.identifier.issn | 1352-4585 | |
dc.identifier.uri | http://hdl.handle.net/10810/65045 | |
dc.description.abstract | Background: The association between multiple sclerosis (MS) and the HLA-DRB1*15: 01 haplotype has been proven to be strong, but its molecular basis remains unclear. Vitamin D receptor (VDR) gene variants and sex have been proposed to modulate this association.
Objectives: 1) Test the association of MS with *15:01 and VDR variants; 2) check whether VDR variants and/or sex modulate the risk conferred by *15:01; 3) study whether *15:01, VDR variants and/or sex affect HLA II gene expression.
Methods: Peripheral blood from 364 MS patients and 513 healthy controls was obtained and DNA and total RNA were extracted from leukocytes. HLA-DRB1, DRB5 and DQA1 gene expression measurements and *15:01 genotyping were performed by qPCR. VDR variants were genotyped by PCR-RFLP.
Results: Our data confirms that the *15:01 haplotype confers a higher risk of suffering from MS (OR = 1.364; 95% CI = 1.107-1.681). No association was found between VDR variants and MS, but they were shown to moderately modulate the risk conferred by *15:01. Sex confers a much stronger modulation and the *15:01-MS association seems to be female specific. A higher *15:01 frequency has been observed in Basques (45.1%). *15:01 positive samples showed a significant overexpression of DRB1 (p < 0.001), DRB5 (p < 0.001) and DQA1 (p = 0.004) in patients. DRB1 (p = 0.004) and DRB5 (p < 0.001) were also overexpressed in *15:01 controls.
Conclusions: We confirm the *15:01-MS association and support that it is female specific. The relevance of ethnic origin on association studies has also been highlighted. HLA-DRB1*15:01 seems to be a haplotype consistently linked to high HLA II gene expression. | es_ES |
dc.description.sponsorship | This work was supported by the Basque Government (grant numbers BFI09.294 to HI and BFI09.206 to MMC), Rio-Hortega (grant number CM09/00129 to TC), the Ilundain Fundazioa, and Fundación 2000 and FIS (grant number PS09/02105). | |
dc.language.iso | eng | es_ES |
dc.publisher | Sage | |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.subject | HLA-DRB1*15:01 | es_ES |
dc.subject | HLA II gene expression | es_ES |
dc.subject | multiple sclerosis | es_ES |
dc.subject | sex | es_ES |
dc.subject | VDR | es_ES |
dc.title | HLA-DRB1*15:01 and multiple sclerosis: a female association? | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | © The Author(s) 2012 published by Sage | es_ES |
dc.relation.publisherversion | https://journals.sagepub.com/doi/10.1177/1352458511426813 | |
dc.identifier.doi | 10.1177/1352458511426813 | |
dc.departamentoes | Procesos psicológicos básicos y su desarrollo | es_ES |
dc.departamentoeu | Oinarrizko psikologia prozesuak eta haien garapena | es_ES |