Association of the AChRα-subunit Gene (CHRNA), DQA1*0101, and the DR3 Haplotype in Myasthenia Gravis. Evidence for a Three-gene Disease Model in a Subgroup of Patients

Autor: Djabiri, Farid, Caillat-Zucman, Sophie, Gajdos, Philippe, Jaı̈s, Jean-Philippe, Gomez, Lucienne, Khalil, Iman, Charron, Dominique, Bach, Jean-François, Garchon, Henri-Jean
Zdroj: Journal of Autoimmunity; August 1997, Vol. 10 Issue: 4 p407-413, 7p
Abstrakt: Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction having multigene control. HLA-linked loci and the HB*14 micro-satellite marker located within the CHRNA gene which encodes the muscular acetylcholine receptor (AChR) α-subunit, the target self-antigen, were previously associated with MG. Combined analysis of these loci revealed a significant increase of DQA1*0101 alleles in HB*14+vs.HB*14− patients and of DQA1*0501 alleles in HB*14/DQA1*0101 patients. Importantly, the effect of DQA1*0101 was independent of allelically associated DQB1 and DRB1 genes. In contrast, the effect of DQA1*0501 could not be dissociated from that of DRB1*03 and DQB1*0201 on the extended DR3 haplotype. These results indicate that a combination of three genes, of which two are linked to HLA, contributes to disease susceptibility in a subgroup of MG patients.
Databáze: Supplemental Index